#ID(s) interactor A ID(s) interactor B Alt. ID(s) interactor A Alt. ID(s) interactor B Alias(es) interactor A Alias(es) interactor B Interaction detection method(s) Publication 1st author(s) Publication Identifier(s) Taxid interactor A Taxid interactor B Interaction type(s) Source database(s) Interaction identifier(s) Confidence value(s) Expansion method(s) Biological role(s) interactor A Biological role(s) interactor B Experimental role(s) interactor A Experimental role(s) interactor B Type(s) interactor A Type(s) interactor B Xref(s) interactor A Xref(s) interactor B Interaction Xref(s) Annotation(s) interactor A Annotation(s) interactor B Interaction annotation(s) Host organism(s) Interaction parameter(s) Creation date Update date Checksum(s) interactor A Checksum(s) interactor B Interaction Checksum(s) Negative Feature(s) interactor A Feature(s) interactor B Stoichiometry(s) interactor A Stoichiometry(s) interactor B Identification method participant A Identification method participant B uniprotkb:P17405 uniprotkb:Q14790 intact:EBI-7095800|uniprotkb:Q13811|uniprotkb:P17406|uniprotkb:Q16837|intact:MINT-3008689|uniprotkb:Q16841|uniprotkb:E9PKS3|uniprotkb:A8K8M3|ensembl:ENSP00000340409 intact:EBI-78060|ensembl:ENSP00000412523|ensembl:ENSP00000501268|uniprotkb:Q14793|uniprotkb:Q14794|uniprotkb:Q14795|uniprotkb:Q14796|uniprotkb:Q15780|uniprotkb:Q15806|uniprotkb:Q53TT5|uniprotkb:Q8TDI1|uniprotkb:Q8TDI2|uniprotkb:Q8TDI3|uniprotkb:Q8TDI4|uniprotkb:Q8TDI5|uniprotkb:Q96T22|uniprotkb:Q9C0K4|uniprotkb:O14676|uniprotkb:Q14791|uniprotkb:Q14792|uniprotkb:Q9UQ81 psi-mi:asm_human(display_long)|uniprotkb:SMPD1(gene name)|psi-mi:SMPD1(display_short)|uniprotkb:ASM(gene name synonym)|uniprotkb:Acid sphingomyelinase(gene name synonym) psi-mi:casp8_human(display_long)|uniprotkb:CASP8(gene name)|psi-mi:CASP8(display_short)|uniprotkb:MCH5(gene name synonym)|uniprotkb:ICE-like apoptotic protease 5(gene name synonym)|uniprotkb:MORT1-associated ced-3 homolog(gene name synonym)|uniprotkb:FADD-homologous ICE/ced-3-like protease(gene name synonym)|uniprotkb:FADD-like ICE(gene name synonym)|uniprotkb:Apoptotic cysteine protease(gene name synonym)|uniprotkb:Apoptotic protease Mch-5(gene name synonym)|uniprotkb:CAP4(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0403"(colocalization) psi-mi:"MI:0471"(MINT) intact:EBI-8542763|mint:MINT-8095243|imex:IM-15318-6 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001305016.1|refseq:NP_001305017.1|refseq:NP_001007594.2|refseq:NP_000534.3|refseq:XP_011518605.1|ensembl:ENSG00000166311(gene)|ensembl:ENST00000342245(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0004767"(sphingomyelin phosphodiesterase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006684"(sphingomyelin metabolic process)|go:"GO:0006685"(sphingomyelin catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016798"(hydrolase activity, acting on glycosyl bonds)|go:"GO:0008081"(phosphoric diester hydrolase activity)|go:"GO:0023021"(termination of signal transduction)|go:"GO:0034340"(response to type I interferon)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0036019"(endolysosome)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0042060"(wound healing)|go:"GO:0042220"(response to cocaine)|go:"GO:0042493"|go:"GO:0042599"(lamellar body)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0046513"(ceramide biosynthetic process)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0061750"(acid sphingomyelin phosphodiesterase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071277"(cellular response to calcium ion)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR008139(Saposin B)|go:"GO:0009615"(response to virus)|interpro:IPR011001(Saposin-like)|interpro:IPR011160(Sphingomyelin phosphodiesterase)|interpro:IPR029052|interpro:IPR041805|rcsb pdb:5I81|rcsb pdb:5I85|rcsb pdb:5I8R|rcsb pdb:5JG8|reactome:R-HSA-1660662|mint:MINT-8095246(identity) go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0007507"(heart development)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0008625"(extrinsic apoptotic signaling pathway via death domain receptors)|ensembl:ENSG00000064012(gene)|ensembl:ENST00000432109(transcript)|ensembl:ENST00000673742(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001817"(regulation of cytokine production)|go:"GO:0004197"(cysteine-type endopeptidase activity)|go:"GO:0005123"(death receptor binding)|go:"GO:0005164"(tumor necrosis factor receptor binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|go:"GO:0009409"(response to cold)|go:"GO:0010803"(regulation of tumor necrosis factor-mediated signaling pathway)|go:"GO:0030101"(natural killer cell activation)|go:"GO:0030225"(macrophage differentiation)|go:"GO:0031264"(death-inducing signaling complex)|go:"GO:0031265"(CD95 death-inducing signaling complex)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032025"(response to cobalt ion)|go:"GO:0032355"(response to estradiol)|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0035877"(death effector domain binding)|go:"GO:0036462"(TRAIL-activated apoptotic signaling pathway)|go:"GO:0042110"(T cell activation)|go:"GO:0042113"(B cell activation)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043124"(negative regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045088"(regulation of innate immune response)|go:"GO:0045121"(membrane raft)|go:"GO:0045471"(response to ethanol)|go:"GO:0045651"(positive regulation of macrophage differentiation)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0046677"(response to antibiotic)|go:"GO:0051603"(proteolysis involved in cellular protein catabolic process)|go:"GO:0060546"(negative regulation of necroptotic process)|go:"GO:0060715"(syncytiotrophoblast cell differentiation involved in labyrinthine layer development)|go:"GO:0070269"(pyroptosis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0097110"(scaffold protein binding)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097190"(apoptotic signaling pathway)|go:"GO:0097191"(extrinsic apoptotic signaling pathway)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097199"(cysteine-type endopeptidase activity involved in apoptotic signaling pathway)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|go:"GO:0097202"(activation of cysteine-type endopeptidase activity)|go:"GO:0097264"(self proteolysis)|go:"GO:0097342"(ripoptosome)|go:"GO:1901216"(positive regulation of neuron death)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|reactome:R-HSA-264870|interpro:IPR001875(Death effector)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR011029(DEATH-like)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|interpro:IPR033170|mint:Q14790|rcsb pdb:1F9E|rcsb pdb:1I4E|rcsb pdb:1QDU|rcsb pdb:1QTN|rcsb pdb:2C2Z|rcsb pdb:2FUN|rcsb pdb:2K7Z|rcsb pdb:2Y1L|rcsb pdb:3H11|rcsb pdb:3KJN|rcsb pdb:3KJQ|rcsb pdb:4JJ7|rcsb pdb:4PRZ|rcsb pdb:4PS1|rcsb pdb:4ZBW|rcsb pdb:5H31|rcsb pdb:5H33|rcsb pdb:5JQE|rcsb pdb:5L08|rcsb pdb:6AGW|rcsb pdb:6PX9|reactome:R-HSA-111465|reactome:R-HSA-140534|reactome:R-HSA-168638|reactome:R-HSA-2562578|reactome:R-HSA-3371378|reactome:R-HSA-5213460|reactome:R-HSA-5218900|reactome:R-HSA-5357786|reactome:R-HSA-5357905|reactome:R-HSA-5660668|reactome:R-HSA-5675482|reactome:R-HSA-69416|reactome:R-HSA-75108|reactome:R-HSA-75153|reactome:R-HSA-75157|reactome:R-HSA-75158|reactome:R-HSA-9013957|reactome:R-HSA-933543|reactome:R-HSA-9686347|reactome:R-HSA-9693928|refseq:NP_001073593.1|refseq:NP_001073594.1|refseq:NP_001219.2|refseq:NP_203519.1|refseq:NP_203520.1|refseq:NP_203522.1|refseq:XP_006712852.1|refseq:XP_006712853.1|refseq:XP_006712856.1|refseq:XP_005246944.1|refseq:XP_005246945.1|refseq:XP_005246946.1|refseq:XP_005246947.1|refseq:XP_005246948.1|refseq:XP_005246949.1|refseq:XP_005246943.1|dip:DIP-30915N|mint:MINT-8095245(identity) go:"GO:0031982"(vesicle) function:"Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years"|comment:mint|function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol|comment:homomint|function:"Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood" - figure legend:f2c|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2018/09/18 rogid:oi5zZbmEsp7I2/Sc/pulhjF1zcw9606 rogid:XKI9lMiIKZTtoY2lN/QIm1yTksY9606 intact-crc:A6C2B46AB31EC4ED|rigid:0gPpxbPxSaT5ftLiDwLlMiZpVgw false - - - - psi-mi:"MI:0422"(immunostaining) psi-mi:"MI:0422"(immunostaining) uniprotkb:P17405 uniprotkb:Q14790 intact:EBI-7095800|uniprotkb:Q13811|uniprotkb:P17406|uniprotkb:Q16837|intact:MINT-3008689|uniprotkb:Q16841|uniprotkb:E9PKS3|uniprotkb:A8K8M3|ensembl:ENSP00000340409 intact:EBI-78060|ensembl:ENSP00000412523|ensembl:ENSP00000501268|uniprotkb:Q14793|uniprotkb:Q14794|uniprotkb:Q14795|uniprotkb:Q14796|uniprotkb:Q15780|uniprotkb:Q15806|uniprotkb:Q53TT5|uniprotkb:Q8TDI1|uniprotkb:Q8TDI2|uniprotkb:Q8TDI3|uniprotkb:Q8TDI4|uniprotkb:Q8TDI5|uniprotkb:Q96T22|uniprotkb:Q9C0K4|uniprotkb:O14676|uniprotkb:Q14791|uniprotkb:Q14792|uniprotkb:Q9UQ81 psi-mi:asm_human(display_long)|uniprotkb:SMPD1(gene name)|psi-mi:SMPD1(display_short)|uniprotkb:ASM(gene name synonym)|uniprotkb:Acid sphingomyelinase(gene name synonym) psi-mi:casp8_human(display_long)|uniprotkb:CASP8(gene name)|psi-mi:CASP8(display_short)|uniprotkb:MCH5(gene name synonym)|uniprotkb:ICE-like apoptotic protease 5(gene name synonym)|uniprotkb:MORT1-associated ced-3 homolog(gene name synonym)|uniprotkb:FADD-homologous ICE/ced-3-like protease(gene name synonym)|uniprotkb:FADD-like ICE(gene name synonym)|uniprotkb:Apoptotic cysteine protease(gene name synonym)|uniprotkb:Apoptotic protease Mch-5(gene name synonym)|uniprotkb:CAP4(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0403"(colocalization) psi-mi:"MI:0471"(MINT) intact:EBI-8542776|mint:MINT-8095252|imex:IM-15318-7 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001305016.1|refseq:NP_001305017.1|refseq:NP_001007594.2|refseq:NP_000534.3|refseq:XP_011518605.1|ensembl:ENSG00000166311(gene)|ensembl:ENST00000342245(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0004767"(sphingomyelin phosphodiesterase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006684"(sphingomyelin metabolic process)|go:"GO:0006685"(sphingomyelin catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016798"(hydrolase activity, acting on glycosyl bonds)|go:"GO:0008081"(phosphoric diester hydrolase activity)|go:"GO:0023021"(termination of signal transduction)|go:"GO:0034340"(response to type I interferon)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0036019"(endolysosome)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0042060"(wound healing)|go:"GO:0042220"(response to cocaine)|go:"GO:0042493"|go:"GO:0042599"(lamellar body)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0046513"(ceramide biosynthetic process)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0061750"(acid sphingomyelin phosphodiesterase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071277"(cellular response to calcium ion)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR008139(Saposin B)|go:"GO:0009615"(response to virus)|interpro:IPR011001(Saposin-like)|interpro:IPR011160(Sphingomyelin phosphodiesterase)|interpro:IPR029052|interpro:IPR041805|rcsb pdb:5I81|rcsb pdb:5I85|rcsb pdb:5I8R|rcsb pdb:5JG8|reactome:R-HSA-1660662|mint:MINT-8095256(identity) go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0007507"(heart development)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0008625"(extrinsic apoptotic signaling pathway via death domain receptors)|ensembl:ENSG00000064012(gene)|ensembl:ENST00000432109(transcript)|ensembl:ENST00000673742(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001817"(regulation of cytokine production)|go:"GO:0004197"(cysteine-type endopeptidase activity)|go:"GO:0005123"(death receptor binding)|go:"GO:0005164"(tumor necrosis factor receptor binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|go:"GO:0009409"(response to cold)|go:"GO:0010803"(regulation of tumor necrosis factor-mediated signaling pathway)|go:"GO:0030101"(natural killer cell activation)|go:"GO:0030225"(macrophage differentiation)|go:"GO:0031264"(death-inducing signaling complex)|go:"GO:0031265"(CD95 death-inducing signaling complex)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032025"(response to cobalt ion)|go:"GO:0032355"(response to estradiol)|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0035877"(death effector domain binding)|go:"GO:0036462"(TRAIL-activated apoptotic signaling pathway)|go:"GO:0042110"(T cell activation)|go:"GO:0042113"(B cell activation)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043124"(negative regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045088"(regulation of innate immune response)|go:"GO:0045121"(membrane raft)|go:"GO:0045471"(response to ethanol)|go:"GO:0045651"(positive regulation of macrophage differentiation)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0046677"(response to antibiotic)|go:"GO:0051603"(proteolysis involved in cellular protein catabolic process)|go:"GO:0060546"(negative regulation of necroptotic process)|go:"GO:0060715"(syncytiotrophoblast cell differentiation involved in labyrinthine layer development)|go:"GO:0070269"(pyroptosis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0097110"(scaffold protein binding)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097190"(apoptotic signaling pathway)|go:"GO:0097191"(extrinsic apoptotic signaling pathway)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097199"(cysteine-type endopeptidase activity involved in apoptotic signaling pathway)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|go:"GO:0097202"(activation of cysteine-type endopeptidase activity)|go:"GO:0097264"(self proteolysis)|go:"GO:0097342"(ripoptosome)|go:"GO:1901216"(positive regulation of neuron death)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|reactome:R-HSA-264870|interpro:IPR001875(Death effector)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR011029(DEATH-like)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|interpro:IPR033170|mint:Q14790|rcsb pdb:1F9E|rcsb pdb:1I4E|rcsb pdb:1QDU|rcsb pdb:1QTN|rcsb pdb:2C2Z|rcsb pdb:2FUN|rcsb pdb:2K7Z|rcsb pdb:2Y1L|rcsb pdb:3H11|rcsb pdb:3KJN|rcsb pdb:3KJQ|rcsb pdb:4JJ7|rcsb pdb:4PRZ|rcsb pdb:4PS1|rcsb pdb:4ZBW|rcsb pdb:5H31|rcsb pdb:5H33|rcsb pdb:5JQE|rcsb pdb:5L08|rcsb pdb:6AGW|rcsb pdb:6PX9|reactome:R-HSA-111465|reactome:R-HSA-140534|reactome:R-HSA-168638|reactome:R-HSA-2562578|reactome:R-HSA-3371378|reactome:R-HSA-5213460|reactome:R-HSA-5218900|reactome:R-HSA-5357786|reactome:R-HSA-5357905|reactome:R-HSA-5660668|reactome:R-HSA-5675482|reactome:R-HSA-69416|reactome:R-HSA-75108|reactome:R-HSA-75153|reactome:R-HSA-75157|reactome:R-HSA-75158|reactome:R-HSA-9013957|reactome:R-HSA-933543|reactome:R-HSA-9686347|reactome:R-HSA-9693928|refseq:NP_001073593.1|refseq:NP_001073594.1|refseq:NP_001219.2|refseq:NP_203519.1|refseq:NP_203520.1|refseq:NP_203522.1|refseq:XP_006712852.1|refseq:XP_006712853.1|refseq:XP_006712856.1|refseq:XP_005246944.1|refseq:XP_005246945.1|refseq:XP_005246946.1|refseq:XP_005246947.1|refseq:XP_005246948.1|refseq:XP_005246949.1|refseq:XP_005246943.1|dip:DIP-30915N|mint:MINT-8095254(identity) go:"GO:0031982"(vesicle) function:"Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years"|comment:mint|function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol|comment:homomint|function:"Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood" - figure legend:f2d|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2018/09/18 rogid:oi5zZbmEsp7I2/Sc/pulhjF1zcw9606 rogid:XKI9lMiIKZTtoY2lN/QIm1yTksY9606 intact-crc:686569D504CD30AE|rigid:0gPpxbPxSaT5ftLiDwLlMiZpVgw false ha tag:?-?(MINT-8095260) - - - psi-mi:"MI:0422"(immunostaining) psi-mi:"MI:0422"(immunostaining) uniprotkb:P19438 uniprotkb:Q14790 intact:EBI-299451|ensembl:ENSP00000162749|uniprotkb:A8K4X3|uniprotkb:B2RDE4|uniprotkb:B3KPQ1|uniprotkb:B4DQB7|uniprotkb:B4E309|uniprotkb:Q9UCA4|uniprotkb:D3DUR1|uniprotkb:B5M0B5 intact:EBI-78060|ensembl:ENSP00000412523|ensembl:ENSP00000501268|uniprotkb:Q14793|uniprotkb:Q14794|uniprotkb:Q14795|uniprotkb:Q14796|uniprotkb:Q15780|uniprotkb:Q15806|uniprotkb:Q53TT5|uniprotkb:Q8TDI1|uniprotkb:Q8TDI2|uniprotkb:Q8TDI3|uniprotkb:Q8TDI4|uniprotkb:Q8TDI5|uniprotkb:Q96T22|uniprotkb:Q9C0K4|uniprotkb:O14676|uniprotkb:Q14791|uniprotkb:Q14792|uniprotkb:Q9UQ81 psi-mi:tnr1a_human(display_long)|uniprotkb:TNFRSF1A(gene name)|psi-mi:TNFRSF1A(display_short)|uniprotkb:TNFAR(gene name synonym)|uniprotkb:TNFR1(gene name synonym)|uniprotkb:p60(gene name synonym)|uniprotkb:Tumor necrosis factor receptor 1(gene name synonym)|uniprotkb:Tumor necrosis factor receptor type I(gene name synonym)|uniprotkb:p55(gene name synonym) psi-mi:casp8_human(display_long)|uniprotkb:CASP8(gene name)|psi-mi:CASP8(display_short)|uniprotkb:MCH5(gene name synonym)|uniprotkb:ICE-like apoptotic protease 5(gene name synonym)|uniprotkb:MORT1-associated ced-3 homolog(gene name synonym)|uniprotkb:FADD-homologous ICE/ced-3-like protease(gene name synonym)|uniprotkb:FADD-like ICE(gene name synonym)|uniprotkb:Apoptotic cysteine protease(gene name synonym)|uniprotkb:Apoptotic protease Mch-5(gene name synonym)|uniprotkb:CAP4(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0403"(colocalization) psi-mi:"MI:0471"(MINT) intact:EBI-8542792|mint:MINT-8095263|imex:IM-15318-8 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) ensembl:ENSG00000067182(gene)|ensembl:ENST00000162749(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0002947"(tumor necrosis factor receptor superfamily complex)|go:"GO:0003176"(aortic valve development)|go:"GO:0003177"(pulmonary valve development)|go:"GO:0003332"(negative regulation of extracellular matrix constituent secretion)|go:"GO:0005031"(tumor necrosis factor-activated receptor activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005739"(mitochondrion)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006693"(prostaglandin metabolic process)|go:"GO:0006954"(inflammatory response)|go:"GO:0008625"(extrinsic apoptotic signaling pathway via death domain receptors)|go:"GO:0008630"(intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:0009986"(cell surface)|go:"GO:0010614"(negative regulation of cardiac muscle hypertrophy)|go:"GO:0016020"(membrane)|go:"GO:0019221"(cytokine-mediated signaling pathway)|go:"GO:0033209"(tumor necrosis factor-mediated signaling pathway)|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0043120"(tumor necrosis factor binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043235"(receptor complex)|go:"GO:0045121"(membrane raft)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0050728"(negative regulation of inflammatory response)|go:"GO:0050729"(positive regulation of inflammatory response)|go:"GO:1902339"(positive regulation of apoptotic process involved in morphogenesis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR000488(Death)|interpro:IPR001368(TNFR/CD27/30/40/95 cysteine-rich region)|interpro:IPR011029(DEATH-like)|interpro:IPR020419|interpro:IPR033993|interpro:IPR033994|mint:P19438|rcsb pdb:1EXT|rcsb pdb:1FT4|rcsb pdb:1ICH|rcsb pdb:1NCF|rcsb pdb:1TNR|rcsb pdb:7K7A|rcsb pdb:7KP7|rcsb pdb:7KP8|rcsb pdb:7KPB|go:"GO:1903140"(regulation of establishment of endothelial barrier)|reactome:R-HSA-5357786|reactome:R-HSA-5357905|reactome:R-HSA-5357956|reactome:R-HSA-5626978|reactome:R-HSA-5669034|reactome:R-HSA-6783783|reactome:R-HSA-75893|refseq:NP_001056.1|dip:DIP-407N|refseq:NP_001333020.1|refseq:NP_001333021.1|mint:MINT-8095267(identity) go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0007507"(heart development)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0008625"(extrinsic apoptotic signaling pathway via death domain receptors)|ensembl:ENSG00000064012(gene)|ensembl:ENST00000432109(transcript)|ensembl:ENST00000673742(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001817"(regulation of cytokine production)|go:"GO:0004197"(cysteine-type endopeptidase activity)|go:"GO:0005123"(death receptor binding)|go:"GO:0005164"(tumor necrosis factor receptor binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|go:"GO:0009409"(response to cold)|go:"GO:0010803"(regulation of tumor necrosis factor-mediated signaling pathway)|go:"GO:0030101"(natural killer cell activation)|go:"GO:0030225"(macrophage differentiation)|go:"GO:0031264"(death-inducing signaling complex)|go:"GO:0031265"(CD95 death-inducing signaling complex)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032025"(response to cobalt ion)|go:"GO:0032355"(response to estradiol)|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0035877"(death effector domain binding)|go:"GO:0036462"(TRAIL-activated apoptotic signaling pathway)|go:"GO:0042110"(T cell activation)|go:"GO:0042113"(B cell activation)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043124"(negative regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045088"(regulation of innate immune response)|go:"GO:0045121"(membrane raft)|go:"GO:0045471"(response to ethanol)|go:"GO:0045651"(positive regulation of macrophage differentiation)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0046677"(response to antibiotic)|go:"GO:0051603"(proteolysis involved in cellular protein catabolic process)|go:"GO:0060546"(negative regulation of necroptotic process)|go:"GO:0060715"(syncytiotrophoblast cell differentiation involved in labyrinthine layer development)|go:"GO:0070269"(pyroptosis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0097110"(scaffold protein binding)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097190"(apoptotic signaling pathway)|go:"GO:0097191"(extrinsic apoptotic signaling pathway)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097199"(cysteine-type endopeptidase activity involved in apoptotic signaling pathway)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|go:"GO:0097202"(activation of cysteine-type endopeptidase activity)|go:"GO:0097264"(self proteolysis)|go:"GO:0097342"(ripoptosome)|go:"GO:1901216"(positive regulation of neuron death)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|reactome:R-HSA-264870|interpro:IPR001875(Death effector)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR011029(DEATH-like)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|interpro:IPR033170|mint:Q14790|rcsb pdb:1F9E|rcsb pdb:1I4E|rcsb pdb:1QDU|rcsb pdb:1QTN|rcsb pdb:2C2Z|rcsb pdb:2FUN|rcsb pdb:2K7Z|rcsb pdb:2Y1L|rcsb pdb:3H11|rcsb pdb:3KJN|rcsb pdb:3KJQ|rcsb pdb:4JJ7|rcsb pdb:4PRZ|rcsb pdb:4PS1|rcsb pdb:4ZBW|rcsb pdb:5H31|rcsb pdb:5H33|rcsb pdb:5JQE|rcsb pdb:5L08|rcsb pdb:6AGW|rcsb pdb:6PX9|reactome:R-HSA-111465|reactome:R-HSA-140534|reactome:R-HSA-168638|reactome:R-HSA-2562578|reactome:R-HSA-3371378|reactome:R-HSA-5213460|reactome:R-HSA-5218900|reactome:R-HSA-5357786|reactome:R-HSA-5357905|reactome:R-HSA-5660668|reactome:R-HSA-5675482|reactome:R-HSA-69416|reactome:R-HSA-75108|reactome:R-HSA-75153|reactome:R-HSA-75157|reactome:R-HSA-75158|reactome:R-HSA-9013957|reactome:R-HSA-933543|reactome:R-HSA-9686347|reactome:R-HSA-9693928|refseq:NP_001073593.1|refseq:NP_001073594.1|refseq:NP_001219.2|refseq:NP_203519.1|refseq:NP_203520.1|refseq:NP_203522.1|refseq:XP_006712852.1|refseq:XP_006712853.1|refseq:XP_006712856.1|refseq:XP_005246944.1|refseq:XP_005246945.1|refseq:XP_005246946.1|refseq:XP_005246947.1|refseq:XP_005246948.1|refseq:XP_005246949.1|refseq:XP_005246943.1|dip:DIP-30915N|mint:MINT-8095265(identity) go:"GO:0031982"(vesicle) - - figure legend:f2a|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2014/10/16 rogid:A9Ga60ipENjSsgt59TfNchYqXtw9606 rogid:XKI9lMiIKZTtoY2lN/QIm1yTksY9606 intact-crc:5AAD9DAC99766645|rigid:+UJKBRuiEa/ml4S9uXKN7e0XcXA false - - - - psi-mi:"MI:0422"(immunostaining) psi-mi:"MI:0422"(immunostaining) uniprotkb:P17405 uniprotkb:P55210 intact:EBI-7095800|uniprotkb:Q13811|uniprotkb:P17406|uniprotkb:Q16837|intact:MINT-3008689|uniprotkb:Q16841|uniprotkb:E9PKS3|uniprotkb:A8K8M3|ensembl:ENSP00000340409 intact:EBI-523958|uniprotkb:B5BU45|uniprotkb:Q5SVL3|uniprotkb:Q13364|uniprotkb:Q96BA0|uniprotkb:Q5SVL0|uniprotkb:Q53YD5|ensembl:ENSP00000298701|ensembl:ENSP00000358321|ensembl:ENSP00000358324|ensembl:ENSP00000480584|uniprotkb:D3DRB8|uniprotkb:B4DQU7 psi-mi:asm_human(display_long)|uniprotkb:SMPD1(gene name)|psi-mi:SMPD1(display_short)|uniprotkb:ASM(gene name synonym)|uniprotkb:Acid sphingomyelinase(gene name synonym) psi-mi:casp7_human(display_long)|uniprotkb:ICE-like apoptotic protease 3(gene name synonym)|uniprotkb:Apoptotic protease Mch-3(gene name synonym)|uniprotkb:CMH-1(gene name synonym)|uniprotkb:CASP7(gene name)|psi-mi:CASP7(display_short)|uniprotkb:MCH3(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0403"(colocalization) psi-mi:"MI:0471"(MINT) intact:EBI-8542818|mint:MINT-8095286|imex:IM-15318-10 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001305016.1|refseq:NP_001305017.1|refseq:NP_001007594.2|refseq:NP_000534.3|refseq:XP_011518605.1|ensembl:ENSG00000166311(gene)|ensembl:ENST00000342245(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0004767"(sphingomyelin phosphodiesterase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006684"(sphingomyelin metabolic process)|go:"GO:0006685"(sphingomyelin catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016798"(hydrolase activity, acting on glycosyl bonds)|go:"GO:0008081"(phosphoric diester hydrolase activity)|go:"GO:0023021"(termination of signal transduction)|go:"GO:0034340"(response to type I interferon)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0036019"(endolysosome)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0042060"(wound healing)|go:"GO:0042220"(response to cocaine)|go:"GO:0042493"|go:"GO:0042599"(lamellar body)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0046513"(ceramide biosynthetic process)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0061750"(acid sphingomyelin phosphodiesterase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071277"(cellular response to calcium ion)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR008139(Saposin B)|go:"GO:0009615"(response to virus)|interpro:IPR011001(Saposin-like)|interpro:IPR011160(Sphingomyelin phosphodiesterase)|interpro:IPR029052|interpro:IPR041805|rcsb pdb:5I81|rcsb pdb:5I85|rcsb pdb:5I8R|rcsb pdb:5JG8|reactome:R-HSA-1660662|mint:MINT-8095290(identity) refseq:NP_001218.1|refseq:NP_203124.1|refseq:NP_203125.1|refseq:NP_203126.1|ensembl:ENSG00000165806(gene)|ensembl:ENST00000345633(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|ensembl:ENST00000369315(transcript)|go:"GO:0007507"(heart development)|go:"GO:0007568"(aging)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0009411"(response to UV)|go:"GO:0016485"(protein processing)|go:"GO:0051146"(striated muscle cell differentiation)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0071887"(leukocyte apoptotic process)|go:"GO:0072734"(cellular response to staurosporine)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR015471(Caspase-7)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|mint:P55210|rcsb pdb:1F1J|ensembl:ENST00000369318(transcript)|rcsb pdb:1GQF|ensembl:ENST00000621345(transcript)|rcsb pdb:1I4O|rcsb pdb:1I51|rcsb pdb:1K86|rcsb pdb:1K88|rcsb pdb:1KMC|rcsb pdb:1MIA|rcsb pdb:1SHJ|go:"GO:0004190"(aspartic-type endopeptidase activity)|rcsb pdb:1SHL|rcsb pdb:2QL5|go:"GO:0004197"(cysteine-type endopeptidase activity)|rcsb pdb:2QL7|go:"GO:0005634"(nucleus)|rcsb pdb:2QL9|rcsb pdb:2QLB|rcsb pdb:2QLF|rcsb pdb:2QLJ|rcsb pdb:3EDR|go:"GO:0005654"(nucleoplasm)|rcsb pdb:3H1P|rcsb pdb:3IBC|rcsb pdb:3IBF|rcsb pdb:3R5K|rcsb pdb:4FDL|rcsb pdb:4FEA|rcsb pdb:4HQ0|rcsb pdb:4HQR|rcsb pdb:4JB8|reactome:R-HSA-111464|reactome:R-HSA-111465|reactome:R-HSA-111469|reactome:R-HSA-264870|rcsb pdb:4JJ8|rcsb pdb:4JR1|rcsb pdb:4JR2|rcsb pdb:4LSZ|rcsb pdb:4ZVO|rcsb pdb:4ZVP|rcsb pdb:4ZVQ|rcsb pdb:4ZVR|rcsb pdb:4ZVS|rcsb pdb:4ZVT|rcsb pdb:4ZVU|rcsb pdb:5IC6|rcsb pdb:5K20|rcsb pdb:5V6U|rcsb pdb:5V6Z|reactome:R-HSA-111459|reactome:R-HSA-111463|refseq:NP_001253986.1|refseq:NP_001253987.1|refseq:NP_001253985.1|refseq:NP_001307840.1|dip:DIP-29973N|mint:MINT-8095288(identity) go:"GO:0030139"(endocytic vesicle) function:"Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years"|comment:mint|function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol|comment:homomint|function:"Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood" - figure legend:f5c|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2018/09/18 rogid:oi5zZbmEsp7I2/Sc/pulhjF1zcw9606 rogid:XcSWtfWWnuOKIbAR+TXpkCq5fig9606 intact-crc:CF154DA0956CA089|rigid:kD3FJBvS3SNmf2gZ9hCHIBbiL8Y false - - - - psi-mi:"MI:0422"(immunostaining) psi-mi:"MI:0422"(immunostaining) uniprotkb:P17405 uniprotkb:P55210 intact:EBI-7095800|uniprotkb:Q13811|uniprotkb:P17406|uniprotkb:Q16837|intact:MINT-3008689|uniprotkb:Q16841|uniprotkb:E9PKS3|uniprotkb:A8K8M3|ensembl:ENSP00000340409 intact:EBI-523958|uniprotkb:B5BU45|uniprotkb:Q5SVL3|uniprotkb:Q13364|uniprotkb:Q96BA0|uniprotkb:Q5SVL0|uniprotkb:Q53YD5|ensembl:ENSP00000298701|ensembl:ENSP00000358321|ensembl:ENSP00000358324|ensembl:ENSP00000480584|uniprotkb:D3DRB8|uniprotkb:B4DQU7 psi-mi:asm_human(display_long)|uniprotkb:SMPD1(gene name)|psi-mi:SMPD1(display_short)|uniprotkb:ASM(gene name synonym)|uniprotkb:Acid sphingomyelinase(gene name synonym) psi-mi:casp7_human(display_long)|uniprotkb:ICE-like apoptotic protease 3(gene name synonym)|uniprotkb:Apoptotic protease Mch-3(gene name synonym)|uniprotkb:CMH-1(gene name synonym)|uniprotkb:CASP7(gene name)|psi-mi:CASP7(display_short)|uniprotkb:MCH3(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0403"(colocalization) psi-mi:"MI:0471"(MINT) intact:EBI-8542831|mint:MINT-8095296|imex:IM-15318-11 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001305016.1|refseq:NP_001305017.1|refseq:NP_001007594.2|refseq:NP_000534.3|refseq:XP_011518605.1|ensembl:ENSG00000166311(gene)|ensembl:ENST00000342245(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0004767"(sphingomyelin phosphodiesterase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006684"(sphingomyelin metabolic process)|go:"GO:0006685"(sphingomyelin catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016798"(hydrolase activity, acting on glycosyl bonds)|go:"GO:0008081"(phosphoric diester hydrolase activity)|go:"GO:0023021"(termination of signal transduction)|go:"GO:0034340"(response to type I interferon)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0036019"(endolysosome)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0042060"(wound healing)|go:"GO:0042220"(response to cocaine)|go:"GO:0042493"|go:"GO:0042599"(lamellar body)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0046513"(ceramide biosynthetic process)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0061750"(acid sphingomyelin phosphodiesterase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071277"(cellular response to calcium ion)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR008139(Saposin B)|go:"GO:0009615"(response to virus)|interpro:IPR011001(Saposin-like)|interpro:IPR011160(Sphingomyelin phosphodiesterase)|interpro:IPR029052|interpro:IPR041805|rcsb pdb:5I81|rcsb pdb:5I85|rcsb pdb:5I8R|rcsb pdb:5JG8|reactome:R-HSA-1660662|mint:MINT-8095299(identity) refseq:NP_001218.1|refseq:NP_203124.1|refseq:NP_203125.1|refseq:NP_203126.1|ensembl:ENSG00000165806(gene)|ensembl:ENST00000345633(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|ensembl:ENST00000369315(transcript)|go:"GO:0007507"(heart development)|go:"GO:0007568"(aging)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0009411"(response to UV)|go:"GO:0016485"(protein processing)|go:"GO:0051146"(striated muscle cell differentiation)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0071887"(leukocyte apoptotic process)|go:"GO:0072734"(cellular response to staurosporine)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR015471(Caspase-7)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|mint:P55210|rcsb pdb:1F1J|ensembl:ENST00000369318(transcript)|rcsb pdb:1GQF|ensembl:ENST00000621345(transcript)|rcsb pdb:1I4O|rcsb pdb:1I51|rcsb pdb:1K86|rcsb pdb:1K88|rcsb pdb:1KMC|rcsb pdb:1MIA|rcsb pdb:1SHJ|go:"GO:0004190"(aspartic-type endopeptidase activity)|rcsb pdb:1SHL|rcsb pdb:2QL5|go:"GO:0004197"(cysteine-type endopeptidase activity)|rcsb pdb:2QL7|go:"GO:0005634"(nucleus)|rcsb pdb:2QL9|rcsb pdb:2QLB|rcsb pdb:2QLF|rcsb pdb:2QLJ|rcsb pdb:3EDR|go:"GO:0005654"(nucleoplasm)|rcsb pdb:3H1P|rcsb pdb:3IBC|rcsb pdb:3IBF|rcsb pdb:3R5K|rcsb pdb:4FDL|rcsb pdb:4FEA|rcsb pdb:4HQ0|rcsb pdb:4HQR|rcsb pdb:4JB8|reactome:R-HSA-111464|reactome:R-HSA-111465|reactome:R-HSA-111469|reactome:R-HSA-264870|rcsb pdb:4JJ8|rcsb pdb:4JR1|rcsb pdb:4JR2|rcsb pdb:4LSZ|rcsb pdb:4ZVO|rcsb pdb:4ZVP|rcsb pdb:4ZVQ|rcsb pdb:4ZVR|rcsb pdb:4ZVS|rcsb pdb:4ZVT|rcsb pdb:4ZVU|rcsb pdb:5IC6|rcsb pdb:5K20|rcsb pdb:5V6U|rcsb pdb:5V6Z|reactome:R-HSA-111459|reactome:R-HSA-111463|refseq:NP_001253986.1|refseq:NP_001253987.1|refseq:NP_001253985.1|refseq:NP_001307840.1|dip:DIP-29973N|mint:MINT-8095301(identity) go:"GO:0030139"(endocytic vesicle) function:"Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years"|comment:mint|function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol|comment:homomint|function:"Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood" - figure legend:f5b|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2018/09/18 rogid:oi5zZbmEsp7I2/Sc/pulhjF1zcw9606 rogid:XcSWtfWWnuOKIbAR+TXpkCq5fig9606 intact-crc:002F797DB9A4B194|rigid:kD3FJBvS3SNmf2gZ9hCHIBbiL8Y false green fluorescent protein tag:?-?(MINT-8095305) - - - psi-mi:"MI:0867"(tag visualisation by fluorescence) psi-mi:"MI:0422"(immunostaining) uniprotkb:P55210 uniprotkb:P19438 intact:EBI-523958|uniprotkb:B5BU45|uniprotkb:Q5SVL3|uniprotkb:Q13364|uniprotkb:Q96BA0|uniprotkb:Q5SVL0|uniprotkb:Q53YD5|ensembl:ENSP00000298701|ensembl:ENSP00000358321|ensembl:ENSP00000358324|ensembl:ENSP00000480584|uniprotkb:D3DRB8|uniprotkb:B4DQU7 intact:EBI-299451|ensembl:ENSP00000162749|uniprotkb:A8K4X3|uniprotkb:B2RDE4|uniprotkb:B3KPQ1|uniprotkb:B4DQB7|uniprotkb:B4E309|uniprotkb:Q9UCA4|uniprotkb:D3DUR1|uniprotkb:B5M0B5 psi-mi:casp7_human(display_long)|uniprotkb:ICE-like apoptotic protease 3(gene name synonym)|uniprotkb:Apoptotic protease Mch-3(gene name synonym)|uniprotkb:CMH-1(gene name synonym)|uniprotkb:CASP7(gene name)|psi-mi:CASP7(display_short)|uniprotkb:MCH3(gene name synonym) psi-mi:tnr1a_human(display_long)|uniprotkb:TNFRSF1A(gene name)|psi-mi:TNFRSF1A(display_short)|uniprotkb:TNFAR(gene name synonym)|uniprotkb:TNFR1(gene name synonym)|uniprotkb:p60(gene name synonym)|uniprotkb:Tumor necrosis factor receptor 1(gene name synonym)|uniprotkb:Tumor necrosis factor receptor type I(gene name synonym)|uniprotkb:p55(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0403"(colocalization) psi-mi:"MI:0471"(MINT) intact:EBI-8542847|mint:MINT-8095308|imex:IM-15318-12 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001218.1|refseq:NP_203124.1|refseq:NP_203125.1|refseq:NP_203126.1|ensembl:ENSG00000165806(gene)|ensembl:ENST00000345633(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|ensembl:ENST00000369315(transcript)|go:"GO:0007507"(heart development)|go:"GO:0007568"(aging)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0009411"(response to UV)|go:"GO:0016485"(protein processing)|go:"GO:0051146"(striated muscle cell differentiation)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0071887"(leukocyte apoptotic process)|go:"GO:0072734"(cellular response to staurosporine)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR015471(Caspase-7)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|mint:P55210|rcsb pdb:1F1J|ensembl:ENST00000369318(transcript)|rcsb pdb:1GQF|ensembl:ENST00000621345(transcript)|rcsb pdb:1I4O|rcsb pdb:1I51|rcsb pdb:1K86|rcsb pdb:1K88|rcsb pdb:1KMC|rcsb pdb:1MIA|rcsb pdb:1SHJ|go:"GO:0004190"(aspartic-type endopeptidase activity)|rcsb pdb:1SHL|rcsb pdb:2QL5|go:"GO:0004197"(cysteine-type endopeptidase activity)|rcsb pdb:2QL7|go:"GO:0005634"(nucleus)|rcsb pdb:2QL9|rcsb pdb:2QLB|rcsb pdb:2QLF|rcsb pdb:2QLJ|rcsb pdb:3EDR|go:"GO:0005654"(nucleoplasm)|rcsb pdb:3H1P|rcsb pdb:3IBC|rcsb pdb:3IBF|rcsb pdb:3R5K|rcsb pdb:4FDL|rcsb pdb:4FEA|rcsb pdb:4HQ0|rcsb pdb:4HQR|rcsb pdb:4JB8|reactome:R-HSA-111464|reactome:R-HSA-111465|reactome:R-HSA-111469|reactome:R-HSA-264870|rcsb pdb:4JJ8|rcsb pdb:4JR1|rcsb pdb:4JR2|rcsb pdb:4LSZ|rcsb pdb:4ZVO|rcsb pdb:4ZVP|rcsb pdb:4ZVQ|rcsb pdb:4ZVR|rcsb pdb:4ZVS|rcsb pdb:4ZVT|rcsb pdb:4ZVU|rcsb pdb:5IC6|rcsb pdb:5K20|rcsb pdb:5V6U|rcsb pdb:5V6Z|reactome:R-HSA-111459|reactome:R-HSA-111463|refseq:NP_001253986.1|refseq:NP_001253987.1|refseq:NP_001253985.1|refseq:NP_001307840.1|dip:DIP-29973N|mint:MINT-8095315(identity) ensembl:ENSG00000067182(gene)|ensembl:ENST00000162749(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0002947"(tumor necrosis factor receptor superfamily complex)|go:"GO:0003176"(aortic valve development)|go:"GO:0003177"(pulmonary valve development)|go:"GO:0003332"(negative regulation of extracellular matrix constituent secretion)|go:"GO:0005031"(tumor necrosis factor-activated receptor activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005739"(mitochondrion)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006693"(prostaglandin metabolic process)|go:"GO:0006954"(inflammatory response)|go:"GO:0008625"(extrinsic apoptotic signaling pathway via death domain receptors)|go:"GO:0008630"(intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:0009986"(cell surface)|go:"GO:0010614"(negative regulation of cardiac muscle hypertrophy)|go:"GO:0016020"(membrane)|go:"GO:0019221"(cytokine-mediated signaling pathway)|go:"GO:0033209"(tumor necrosis factor-mediated signaling pathway)|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0043120"(tumor necrosis factor binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043235"(receptor complex)|go:"GO:0045121"(membrane raft)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0050728"(negative regulation of inflammatory response)|go:"GO:0050729"(positive regulation of inflammatory response)|go:"GO:1902339"(positive regulation of apoptotic process involved in morphogenesis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR000488(Death)|interpro:IPR001368(TNFR/CD27/30/40/95 cysteine-rich region)|interpro:IPR011029(DEATH-like)|interpro:IPR020419|interpro:IPR033993|interpro:IPR033994|mint:P19438|rcsb pdb:1EXT|rcsb pdb:1FT4|rcsb pdb:1ICH|rcsb pdb:1NCF|rcsb pdb:1TNR|rcsb pdb:7K7A|rcsb pdb:7KP7|rcsb pdb:7KP8|rcsb pdb:7KPB|go:"GO:1903140"(regulation of establishment of endothelial barrier)|reactome:R-HSA-5357786|reactome:R-HSA-5357905|reactome:R-HSA-5357956|reactome:R-HSA-5626978|reactome:R-HSA-5669034|reactome:R-HSA-6783783|reactome:R-HSA-75893|refseq:NP_001056.1|dip:DIP-407N|refseq:NP_001333020.1|refseq:NP_001333021.1|mint:MINT-8095311(identity) go:"GO:0030139"(endocytic vesicle) - - figure legend:f5a|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2014/10/16 rogid:XcSWtfWWnuOKIbAR+TXpkCq5fig9606 rogid:A9Ga60ipENjSsgt59TfNchYqXtw9606 intact-crc:1ED49C16934CA920|rigid:ULCznIALMVqbo6XmC+XM+zPlvuE false - - - - psi-mi:"MI:0422"(immunostaining) psi-mi:"MI:0422"(immunostaining) uniprotkb:P17405 uniprotkb:P19438 intact:EBI-7095800|uniprotkb:Q13811|uniprotkb:P17406|uniprotkb:Q16837|intact:MINT-3008689|uniprotkb:Q16841|uniprotkb:E9PKS3|uniprotkb:A8K8M3|ensembl:ENSP00000340409 intact:EBI-299451|ensembl:ENSP00000162749|uniprotkb:A8K4X3|uniprotkb:B2RDE4|uniprotkb:B3KPQ1|uniprotkb:B4DQB7|uniprotkb:B4E309|uniprotkb:Q9UCA4|uniprotkb:D3DUR1|uniprotkb:B5M0B5 psi-mi:asm_human(display_long)|uniprotkb:SMPD1(gene name)|psi-mi:SMPD1(display_short)|uniprotkb:ASM(gene name synonym)|uniprotkb:Acid sphingomyelinase(gene name synonym) psi-mi:tnr1a_human(display_long)|uniprotkb:TNFRSF1A(gene name)|psi-mi:TNFRSF1A(display_short)|uniprotkb:TNFAR(gene name synonym)|uniprotkb:TNFR1(gene name synonym)|uniprotkb:p60(gene name synonym)|uniprotkb:Tumor necrosis factor receptor 1(gene name synonym)|uniprotkb:Tumor necrosis factor receptor type I(gene name synonym)|uniprotkb:p55(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0403"(colocalization) psi-mi:"MI:0471"(MINT) intact:EBI-8542805|mint:MINT-8095277|imex:IM-15318-9 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001305016.1|refseq:NP_001305017.1|refseq:NP_001007594.2|refseq:NP_000534.3|refseq:XP_011518605.1|ensembl:ENSG00000166311(gene)|ensembl:ENST00000342245(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0004767"(sphingomyelin phosphodiesterase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006684"(sphingomyelin metabolic process)|go:"GO:0006685"(sphingomyelin catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016798"(hydrolase activity, acting on glycosyl bonds)|go:"GO:0008081"(phosphoric diester hydrolase activity)|go:"GO:0023021"(termination of signal transduction)|go:"GO:0034340"(response to type I interferon)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0036019"(endolysosome)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0042060"(wound healing)|go:"GO:0042220"(response to cocaine)|go:"GO:0042493"|go:"GO:0042599"(lamellar body)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0046513"(ceramide biosynthetic process)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0061750"(acid sphingomyelin phosphodiesterase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071277"(cellular response to calcium ion)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR008139(Saposin B)|go:"GO:0009615"(response to virus)|interpro:IPR011001(Saposin-like)|interpro:IPR011160(Sphingomyelin phosphodiesterase)|interpro:IPR029052|interpro:IPR041805|rcsb pdb:5I81|rcsb pdb:5I85|rcsb pdb:5I8R|rcsb pdb:5JG8|reactome:R-HSA-1660662|mint:MINT-8095279(identity) ensembl:ENSG00000067182(gene)|ensembl:ENST00000162749(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0002947"(tumor necrosis factor receptor superfamily complex)|go:"GO:0003176"(aortic valve development)|go:"GO:0003177"(pulmonary valve development)|go:"GO:0003332"(negative regulation of extracellular matrix constituent secretion)|go:"GO:0005031"(tumor necrosis factor-activated receptor activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005739"(mitochondrion)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006693"(prostaglandin metabolic process)|go:"GO:0006954"(inflammatory response)|go:"GO:0008625"(extrinsic apoptotic signaling pathway via death domain receptors)|go:"GO:0008630"(intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:0009986"(cell surface)|go:"GO:0010614"(negative regulation of cardiac muscle hypertrophy)|go:"GO:0016020"(membrane)|go:"GO:0019221"(cytokine-mediated signaling pathway)|go:"GO:0033209"(tumor necrosis factor-mediated signaling pathway)|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0043120"(tumor necrosis factor binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043235"(receptor complex)|go:"GO:0045121"(membrane raft)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0050728"(negative regulation of inflammatory response)|go:"GO:0050729"(positive regulation of inflammatory response)|go:"GO:1902339"(positive regulation of apoptotic process involved in morphogenesis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR000488(Death)|interpro:IPR001368(TNFR/CD27/30/40/95 cysteine-rich region)|interpro:IPR011029(DEATH-like)|interpro:IPR020419|interpro:IPR033993|interpro:IPR033994|mint:P19438|rcsb pdb:1EXT|rcsb pdb:1FT4|rcsb pdb:1ICH|rcsb pdb:1NCF|rcsb pdb:1TNR|rcsb pdb:7K7A|rcsb pdb:7KP7|rcsb pdb:7KP8|rcsb pdb:7KPB|go:"GO:1903140"(regulation of establishment of endothelial barrier)|reactome:R-HSA-5357786|reactome:R-HSA-5357905|reactome:R-HSA-5357956|reactome:R-HSA-5626978|reactome:R-HSA-5669034|reactome:R-HSA-6783783|reactome:R-HSA-75893|refseq:NP_001056.1|dip:DIP-407N|refseq:NP_001333020.1|refseq:NP_001333021.1|mint:MINT-8095281(identity) go:"GO:0031982"(vesicle) function:"Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years"|comment:mint|function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol|comment:homomint|function:"Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood" - figure legend:f2b|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2018/09/18 rogid:oi5zZbmEsp7I2/Sc/pulhjF1zcw9606 rogid:A9Ga60ipENjSsgt59TfNchYqXtw9606 intact-crc:28BD9AD0C4F55780|rigid:+pT+YVW6dpmTf8ztv4ifksK/bn0 false - - - - psi-mi:"MI:0422"(immunostaining) psi-mi:"MI:0422"(immunostaining) uniprotkb:O88384 uniprotkb:P25118 intact:EBI-775853 intact:EBI-518014|ensembl:ENSMUSP00000032491 psi-mi:vti1b_mouse(display_long)|uniprotkb:Vesicle transport v-SNARE protein Vti1-like 1(gene name synonym)|uniprotkb:Vti1-rp1(gene name synonym)|uniprotkb:Vti1b(gene name)|psi-mi:Vti1b(display_short)|uniprotkb:Vti1l1(gene name synonym) psi-mi:tnr1a_mouse(display_long)|uniprotkb:p60(gene name synonym)|uniprotkb:Tumor necrosis factor receptor 1(gene name synonym)|uniprotkb:Tumor necrosis factor receptor type I(gene name synonym)|uniprotkb:p55(gene name synonym)|uniprotkb:Tnfrsf1a(gene name)|psi-mi:Tnfrsf1a(display_short)|uniprotkb:Tnfr1(gene name synonym)|uniprotkb:Tnfr-1(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:10090(mouse)|taxid:10090(Mus musculus) taxid:10090(mouse)|taxid:10090(Mus musculus) psi-mi:"MI:0403"(colocalization) psi-mi:"MI:0471"(MINT) intact:EBI-8542869|mint:MINT-8095320|imex:IM-15318-5 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) dip:DIP-32212N|reactome:R-MMU-114608|go:"GO:0000149"(SNARE binding)|go:"GO:0005484"(SNAP receptor activity)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0006623"(protein targeting to vacuole)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006891"(intra-Golgi vesicle-mediated transport)|go:"GO:0006896"(Golgi to vacuole transport)|go:"GO:0008021"(synaptic vesicle)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019869"(chloride channel inhibitor activity)|go:"GO:0031201"(SNARE complex)|go:"GO:0031225"(anchored component of membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0031982"(vesicle)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0048280"(vesicle fusion with Golgi apparatus)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0055037"(recycling endosome)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:1903076"(regulation of protein localization to plasma membrane)|interpro:IPR000727(Target SNARE coiled-coil region)|interpro:IPR007705(Vesicle transport v-SNARE)|interpro:IPR010989(t-SNARE)|interpro:IPR038407|rcsb pdb:1GL2|rcsb pdb:2QYW|mint:MINT-8095323(identity) refseq:NP_035739.2|dip:DIP-34532N|ensembl:ENSMUSG00000030341(gene)|ensembl:ENSMUST00000032491(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0002020"(protease binding)|go:"GO:0003176"(aortic valve development)|go:"GO:0003177"(pulmonary valve development)|go:"GO:0003332"(negative regulation of extracellular matrix constituent secretion)|go:"GO:0005031"(tumor necrosis factor-activated receptor activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006693"(prostaglandin metabolic process)|go:"GO:0006952"(defense response)|go:"GO:0006954"(inflammatory response)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0008630"(intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:0009986"(cell surface)|go:"GO:0010614"(negative regulation of cardiac muscle hypertrophy)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019221"(cytokine-mediated signaling pathway)|go:"GO:0030424"(axon)|go:"GO:0032715"(negative regulation of interleukin-6 production)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033209"(tumor necrosis factor-mediated signaling pathway)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0042531"(positive regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0045766"(positive regulation of angiogenesis)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0050728"(negative regulation of inflammatory response)|go:"GO:0050729"(positive regulation of inflammatory response)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:1902339"(positive regulation of apoptotic process involved in morphogenesis)|go:"GO:1903140"(regulation of establishment of endothelial barrier)|interpro:IPR000488(Death)|interpro:IPR001368(TNFR/CD27/30/40/95 cysteine-rich region)|interpro:IPR011029(DEATH-like)|interpro:IPR020419|interpro:IPR033993|interpro:IPR033994|mint:P25118|reactome:R-MMU-5357786|reactome:R-MMU-5357905|reactome:R-MMU-5357956|reactome:R-MMU-5626978|reactome:R-MMU-5669034|reactome:R-MMU-75893|go:"GO:0043120"(tumor necrosis factor binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043235"(receptor complex)|go:"GO:0043525"(positive regulation of neuron apoptotic process)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045121"(membrane raft)|go:"GO:0045202"(synapse)|mint:MINT-8095325(identity) go:"GO:0005802"(trans-Golgi network) - - figure legend:sf3b|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:10090(mouse-fibroblast)|taxid:10090(Mus musculus) - 2011/02/16 2014/10/16 rogid:eFI7zI5irsKyRiau/V4OxefEDIM10090 rogid:7ovm7yoJ2VOpT/hdIuGCOyqEhzM10090 intact-crc:2D6880D32078AA88|rigid:lhO+OG+zf5Mui6cp0LyLbF+ZpYM false - - - - psi-mi:"MI:0422"(immunostaining) psi-mi:"MI:0422"(immunostaining) uniprotkb:P17405 uniprotkb:P55210 intact:EBI-7095800|uniprotkb:Q13811|uniprotkb:P17406|uniprotkb:Q16837|intact:MINT-3008689|uniprotkb:Q16841|uniprotkb:E9PKS3|uniprotkb:A8K8M3|ensembl:ENSP00000340409 intact:EBI-523958|uniprotkb:B5BU45|uniprotkb:Q5SVL3|uniprotkb:Q13364|uniprotkb:Q96BA0|uniprotkb:Q5SVL0|uniprotkb:Q53YD5|ensembl:ENSP00000298701|ensembl:ENSP00000358321|ensembl:ENSP00000358324|ensembl:ENSP00000480584|uniprotkb:D3DRB8|uniprotkb:B4DQU7 psi-mi:asm_human(display_long)|uniprotkb:SMPD1(gene name)|psi-mi:SMPD1(display_short)|uniprotkb:ASM(gene name synonym)|uniprotkb:Acid sphingomyelinase(gene name synonym) psi-mi:casp7_human(display_long)|uniprotkb:ICE-like apoptotic protease 3(gene name synonym)|uniprotkb:Apoptotic protease Mch-3(gene name synonym)|uniprotkb:CMH-1(gene name synonym)|uniprotkb:CASP7(gene name)|psi-mi:CASP7(display_short)|uniprotkb:MCH3(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0471"(MINT) intact:EBI-8542890|mint:MINT-8095356|imex:IM-15318-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001305016.1|refseq:NP_001305017.1|refseq:NP_001007594.2|refseq:NP_000534.3|refseq:XP_011518605.1|ensembl:ENSG00000166311(gene)|ensembl:ENST00000342245(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0004767"(sphingomyelin phosphodiesterase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006684"(sphingomyelin metabolic process)|go:"GO:0006685"(sphingomyelin catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016798"(hydrolase activity, acting on glycosyl bonds)|go:"GO:0008081"(phosphoric diester hydrolase activity)|go:"GO:0023021"(termination of signal transduction)|go:"GO:0034340"(response to type I interferon)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0036019"(endolysosome)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0042060"(wound healing)|go:"GO:0042220"(response to cocaine)|go:"GO:0042493"|go:"GO:0042599"(lamellar body)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0046513"(ceramide biosynthetic process)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0061750"(acid sphingomyelin phosphodiesterase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071277"(cellular response to calcium ion)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR008139(Saposin B)|go:"GO:0009615"(response to virus)|interpro:IPR011001(Saposin-like)|interpro:IPR011160(Sphingomyelin phosphodiesterase)|interpro:IPR029052|interpro:IPR041805|rcsb pdb:5I81|rcsb pdb:5I85|rcsb pdb:5I8R|rcsb pdb:5JG8|reactome:R-HSA-1660662|mint:MINT-8095358(identity) refseq:NP_001218.1|refseq:NP_203124.1|refseq:NP_203125.1|refseq:NP_203126.1|ensembl:ENSG00000165806(gene)|ensembl:ENST00000345633(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|ensembl:ENST00000369315(transcript)|go:"GO:0007507"(heart development)|go:"GO:0007568"(aging)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0009411"(response to UV)|go:"GO:0016485"(protein processing)|go:"GO:0051146"(striated muscle cell differentiation)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0071887"(leukocyte apoptotic process)|go:"GO:0072734"(cellular response to staurosporine)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR015471(Caspase-7)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|mint:P55210|rcsb pdb:1F1J|ensembl:ENST00000369318(transcript)|rcsb pdb:1GQF|ensembl:ENST00000621345(transcript)|rcsb pdb:1I4O|rcsb pdb:1I51|rcsb pdb:1K86|rcsb pdb:1K88|rcsb pdb:1KMC|rcsb pdb:1MIA|rcsb pdb:1SHJ|go:"GO:0004190"(aspartic-type endopeptidase activity)|rcsb pdb:1SHL|rcsb pdb:2QL5|go:"GO:0004197"(cysteine-type endopeptidase activity)|rcsb pdb:2QL7|go:"GO:0005634"(nucleus)|rcsb pdb:2QL9|rcsb pdb:2QLB|rcsb pdb:2QLF|rcsb pdb:2QLJ|rcsb pdb:3EDR|go:"GO:0005654"(nucleoplasm)|rcsb pdb:3H1P|rcsb pdb:3IBC|rcsb pdb:3IBF|rcsb pdb:3R5K|rcsb pdb:4FDL|rcsb pdb:4FEA|rcsb pdb:4HQ0|rcsb pdb:4HQR|rcsb pdb:4JB8|reactome:R-HSA-111464|reactome:R-HSA-111465|reactome:R-HSA-111469|reactome:R-HSA-264870|rcsb pdb:4JJ8|rcsb pdb:4JR1|rcsb pdb:4JR2|rcsb pdb:4LSZ|rcsb pdb:4ZVO|rcsb pdb:4ZVP|rcsb pdb:4ZVQ|rcsb pdb:4ZVR|rcsb pdb:4ZVS|rcsb pdb:4ZVT|rcsb pdb:4ZVU|rcsb pdb:5IC6|rcsb pdb:5K20|rcsb pdb:5V6U|rcsb pdb:5V6Z|reactome:R-HSA-111459|reactome:R-HSA-111463|refseq:NP_001253986.1|refseq:NP_001253987.1|refseq:NP_001253985.1|refseq:NP_001307840.1|dip:DIP-29973N|mint:MINT-8095362(identity) - function:"Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years"|comment:mint|function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol|comment:homomint|function:"Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood" - figure legend:f7a|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2018/09/18 rogid:oi5zZbmEsp7I2/Sc/pulhjF1zcw9606 rogid:XcSWtfWWnuOKIbAR+TXpkCq5fig9606 intact-crc:5E54FC65C42130F1|rigid:Ps/2Ar0tRmp/Gxv0FqQl2vEYz0Q false green fluorescent protein tag:?-?(MINT-8095359) - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0113"(western blot) uniprotkb:P17405 uniprotkb:Q14790 intact:EBI-7095800|uniprotkb:Q13811|uniprotkb:P17406|uniprotkb:Q16837|intact:MINT-3008689|uniprotkb:Q16841|uniprotkb:E9PKS3|uniprotkb:A8K8M3|ensembl:ENSP00000340409 intact:EBI-78060|ensembl:ENSP00000412523|ensembl:ENSP00000501268|uniprotkb:Q14793|uniprotkb:Q14794|uniprotkb:Q14795|uniprotkb:Q14796|uniprotkb:Q15780|uniprotkb:Q15806|uniprotkb:Q53TT5|uniprotkb:Q8TDI1|uniprotkb:Q8TDI2|uniprotkb:Q8TDI3|uniprotkb:Q8TDI4|uniprotkb:Q8TDI5|uniprotkb:Q96T22|uniprotkb:Q9C0K4|uniprotkb:O14676|uniprotkb:Q14791|uniprotkb:Q14792|uniprotkb:Q9UQ81 psi-mi:asm_human(display_long)|uniprotkb:SMPD1(gene name)|psi-mi:SMPD1(display_short)|uniprotkb:ASM(gene name synonym)|uniprotkb:Acid sphingomyelinase(gene name synonym) psi-mi:casp8_human(display_long)|uniprotkb:CASP8(gene name)|psi-mi:CASP8(display_short)|uniprotkb:MCH5(gene name synonym)|uniprotkb:ICE-like apoptotic protease 5(gene name synonym)|uniprotkb:MORT1-associated ced-3 homolog(gene name synonym)|uniprotkb:FADD-homologous ICE/ced-3-like protease(gene name synonym)|uniprotkb:FADD-like ICE(gene name synonym)|uniprotkb:Apoptotic cysteine protease(gene name synonym)|uniprotkb:Apoptotic protease Mch-5(gene name synonym)|uniprotkb:CAP4(gene name synonym) psi-mi:"MI:0007"(anti tag coimmunoprecipitation) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0471"(MINT) intact:EBI-8542890|mint:MINT-8095356|imex:IM-15318-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001305016.1|refseq:NP_001305017.1|refseq:NP_001007594.2|refseq:NP_000534.3|refseq:XP_011518605.1|ensembl:ENSG00000166311(gene)|ensembl:ENST00000342245(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0004767"(sphingomyelin phosphodiesterase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006684"(sphingomyelin metabolic process)|go:"GO:0006685"(sphingomyelin catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016798"(hydrolase activity, acting on glycosyl bonds)|go:"GO:0008081"(phosphoric diester hydrolase activity)|go:"GO:0023021"(termination of signal transduction)|go:"GO:0034340"(response to type I interferon)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0036019"(endolysosome)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0042060"(wound healing)|go:"GO:0042220"(response to cocaine)|go:"GO:0042493"|go:"GO:0042599"(lamellar body)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0046513"(ceramide biosynthetic process)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0061750"(acid sphingomyelin phosphodiesterase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071277"(cellular response to calcium ion)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR008139(Saposin B)|go:"GO:0009615"(response to virus)|interpro:IPR011001(Saposin-like)|interpro:IPR011160(Sphingomyelin phosphodiesterase)|interpro:IPR029052|interpro:IPR041805|rcsb pdb:5I81|rcsb pdb:5I85|rcsb pdb:5I8R|rcsb pdb:5JG8|reactome:R-HSA-1660662|mint:MINT-8095358(identity) go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0007507"(heart development)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0008625"(extrinsic apoptotic signaling pathway via death domain receptors)|ensembl:ENSG00000064012(gene)|ensembl:ENST00000432109(transcript)|ensembl:ENST00000673742(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001817"(regulation of cytokine production)|go:"GO:0004197"(cysteine-type endopeptidase activity)|go:"GO:0005123"(death receptor binding)|go:"GO:0005164"(tumor necrosis factor receptor binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|go:"GO:0009409"(response to cold)|go:"GO:0010803"(regulation of tumor necrosis factor-mediated signaling pathway)|go:"GO:0030101"(natural killer cell activation)|go:"GO:0030225"(macrophage differentiation)|go:"GO:0031264"(death-inducing signaling complex)|go:"GO:0031265"(CD95 death-inducing signaling complex)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032025"(response to cobalt ion)|go:"GO:0032355"(response to estradiol)|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0035877"(death effector domain binding)|go:"GO:0036462"(TRAIL-activated apoptotic signaling pathway)|go:"GO:0042110"(T cell activation)|go:"GO:0042113"(B cell activation)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043124"(negative regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0044297"(cell body)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045088"(regulation of innate immune response)|go:"GO:0045121"(membrane raft)|go:"GO:0045471"(response to ethanol)|go:"GO:0045651"(positive regulation of macrophage differentiation)|go:"GO:0045862"(positive regulation of proteolysis)|go:"GO:0046677"(response to antibiotic)|go:"GO:0051603"(proteolysis involved in cellular protein catabolic process)|go:"GO:0060546"(negative regulation of necroptotic process)|go:"GO:0060715"(syncytiotrophoblast cell differentiation involved in labyrinthine layer development)|go:"GO:0070269"(pyroptosis)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0097110"(scaffold protein binding)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097190"(apoptotic signaling pathway)|go:"GO:0097191"(extrinsic apoptotic signaling pathway)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097199"(cysteine-type endopeptidase activity involved in apoptotic signaling pathway)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|go:"GO:0097202"(activation of cysteine-type endopeptidase activity)|go:"GO:0097264"(self proteolysis)|go:"GO:0097342"(ripoptosome)|go:"GO:1901216"(positive regulation of neuron death)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|reactome:R-HSA-264870|interpro:IPR001875(Death effector)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR011029(DEATH-like)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|interpro:IPR033170|mint:Q14790|rcsb pdb:1F9E|rcsb pdb:1I4E|rcsb pdb:1QDU|rcsb pdb:1QTN|rcsb pdb:2C2Z|rcsb pdb:2FUN|rcsb pdb:2K7Z|rcsb pdb:2Y1L|rcsb pdb:3H11|rcsb pdb:3KJN|rcsb pdb:3KJQ|rcsb pdb:4JJ7|rcsb pdb:4PRZ|rcsb pdb:4PS1|rcsb pdb:4ZBW|rcsb pdb:5H31|rcsb pdb:5H33|rcsb pdb:5JQE|rcsb pdb:5L08|rcsb pdb:6AGW|rcsb pdb:6PX9|reactome:R-HSA-111465|reactome:R-HSA-140534|reactome:R-HSA-168638|reactome:R-HSA-2562578|reactome:R-HSA-3371378|reactome:R-HSA-5213460|reactome:R-HSA-5218900|reactome:R-HSA-5357786|reactome:R-HSA-5357905|reactome:R-HSA-5660668|reactome:R-HSA-5675482|reactome:R-HSA-69416|reactome:R-HSA-75108|reactome:R-HSA-75153|reactome:R-HSA-75157|reactome:R-HSA-75158|reactome:R-HSA-9013957|reactome:R-HSA-933543|reactome:R-HSA-9686347|reactome:R-HSA-9693928|refseq:NP_001073593.1|refseq:NP_001073594.1|refseq:NP_001219.2|refseq:NP_203519.1|refseq:NP_203520.1|refseq:NP_203522.1|refseq:XP_006712852.1|refseq:XP_006712853.1|refseq:XP_006712856.1|refseq:XP_005246944.1|refseq:XP_005246945.1|refseq:XP_005246946.1|refseq:XP_005246947.1|refseq:XP_005246948.1|refseq:XP_005246949.1|refseq:XP_005246943.1|dip:DIP-30915N|mint:MINT-8095365(identity) - function:"Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years"|comment:mint|function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol|comment:homomint|function:"Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood" - figure legend:f7a|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2018/09/18 rogid:oi5zZbmEsp7I2/Sc/pulhjF1zcw9606 rogid:XKI9lMiIKZTtoY2lN/QIm1yTksY9606 intact-crc:5E54FC65C42130F1|rigid:Ps/2Ar0tRmp/Gxv0FqQl2vEYz0Q false green fluorescent protein tag:?-?(MINT-8095359) - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0113"(western blot) uniprotkb:P17405 uniprotkb:P55210 intact:EBI-7095800|uniprotkb:Q13811|uniprotkb:P17406|uniprotkb:Q16837|intact:MINT-3008689|uniprotkb:Q16841|uniprotkb:E9PKS3|uniprotkb:A8K8M3|ensembl:ENSP00000340409 intact:EBI-523958|uniprotkb:B5BU45|uniprotkb:Q5SVL3|uniprotkb:Q13364|uniprotkb:Q96BA0|uniprotkb:Q5SVL0|uniprotkb:Q53YD5|ensembl:ENSP00000298701|ensembl:ENSP00000358321|ensembl:ENSP00000358324|ensembl:ENSP00000480584|uniprotkb:D3DRB8|uniprotkb:B4DQU7 psi-mi:asm_human(display_long)|uniprotkb:SMPD1(gene name)|psi-mi:SMPD1(display_short)|uniprotkb:ASM(gene name synonym)|uniprotkb:Acid sphingomyelinase(gene name synonym) psi-mi:casp7_human(display_long)|uniprotkb:ICE-like apoptotic protease 3(gene name synonym)|uniprotkb:Apoptotic protease Mch-3(gene name synonym)|uniprotkb:CMH-1(gene name synonym)|uniprotkb:CASP7(gene name)|psi-mi:CASP7(display_short)|uniprotkb:MCH3(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0471"(MINT) intact:EBI-8542932|mint:MINT-8095372|imex:IM-15318-2 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001305016.1|refseq:NP_001305017.1|refseq:NP_001007594.2|refseq:NP_000534.3|refseq:XP_011518605.1|ensembl:ENSG00000166311(gene)|ensembl:ENST00000342245(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0004767"(sphingomyelin phosphodiesterase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006684"(sphingomyelin metabolic process)|go:"GO:0006685"(sphingomyelin catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016798"(hydrolase activity, acting on glycosyl bonds)|go:"GO:0008081"(phosphoric diester hydrolase activity)|go:"GO:0023021"(termination of signal transduction)|go:"GO:0034340"(response to type I interferon)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0036019"(endolysosome)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0042060"(wound healing)|go:"GO:0042220"(response to cocaine)|go:"GO:0042493"|go:"GO:0042599"(lamellar body)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0046513"(ceramide biosynthetic process)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0061750"(acid sphingomyelin phosphodiesterase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071277"(cellular response to calcium ion)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR008139(Saposin B)|go:"GO:0009615"(response to virus)|interpro:IPR011001(Saposin-like)|interpro:IPR011160(Sphingomyelin phosphodiesterase)|interpro:IPR029052|interpro:IPR041805|rcsb pdb:5I81|rcsb pdb:5I85|rcsb pdb:5I8R|rcsb pdb:5JG8|reactome:R-HSA-1660662|mint:MINT-8095374(identity) refseq:NP_001218.1|refseq:NP_203124.1|refseq:NP_203125.1|refseq:NP_203126.1|ensembl:ENSG00000165806(gene)|ensembl:ENST00000345633(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|ensembl:ENST00000369315(transcript)|go:"GO:0007507"(heart development)|go:"GO:0007568"(aging)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0009411"(response to UV)|go:"GO:0016485"(protein processing)|go:"GO:0051146"(striated muscle cell differentiation)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0071887"(leukocyte apoptotic process)|go:"GO:0072734"(cellular response to staurosporine)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR015471(Caspase-7)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|mint:P55210|rcsb pdb:1F1J|ensembl:ENST00000369318(transcript)|rcsb pdb:1GQF|ensembl:ENST00000621345(transcript)|rcsb pdb:1I4O|rcsb pdb:1I51|rcsb pdb:1K86|rcsb pdb:1K88|rcsb pdb:1KMC|rcsb pdb:1MIA|rcsb pdb:1SHJ|go:"GO:0004190"(aspartic-type endopeptidase activity)|rcsb pdb:1SHL|rcsb pdb:2QL5|go:"GO:0004197"(cysteine-type endopeptidase activity)|rcsb pdb:2QL7|go:"GO:0005634"(nucleus)|rcsb pdb:2QL9|rcsb pdb:2QLB|rcsb pdb:2QLF|rcsb pdb:2QLJ|rcsb pdb:3EDR|go:"GO:0005654"(nucleoplasm)|rcsb pdb:3H1P|rcsb pdb:3IBC|rcsb pdb:3IBF|rcsb pdb:3R5K|rcsb pdb:4FDL|rcsb pdb:4FEA|rcsb pdb:4HQ0|rcsb pdb:4HQR|rcsb pdb:4JB8|reactome:R-HSA-111464|reactome:R-HSA-111465|reactome:R-HSA-111469|reactome:R-HSA-264870|rcsb pdb:4JJ8|rcsb pdb:4JR1|rcsb pdb:4JR2|rcsb pdb:4LSZ|rcsb pdb:4ZVO|rcsb pdb:4ZVP|rcsb pdb:4ZVQ|rcsb pdb:4ZVR|rcsb pdb:4ZVS|rcsb pdb:4ZVT|rcsb pdb:4ZVU|rcsb pdb:5IC6|rcsb pdb:5K20|rcsb pdb:5V6U|rcsb pdb:5V6Z|reactome:R-HSA-111459|reactome:R-HSA-111463|refseq:NP_001253986.1|refseq:NP_001253987.1|refseq:NP_001253985.1|refseq:NP_001307840.1|dip:DIP-29973N|mint:MINT-8095378(identity) - function:"Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years"|comment:mint|function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol|comment:homomint|function:"Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood" - figure legend:f7b|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2018/09/18 rogid:oi5zZbmEsp7I2/Sc/pulhjF1zcw9606 rogid:XcSWtfWWnuOKIbAR+TXpkCq5fig9606 intact-crc:7146D928AE791A81|rigid:kD3FJBvS3SNmf2gZ9hCHIBbiL8Y false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:P17405 uniprotkb:P55210 intact:EBI-7095800|uniprotkb:Q13811|uniprotkb:P17406|uniprotkb:Q16837|intact:MINT-3008689|uniprotkb:Q16841|uniprotkb:E9PKS3|uniprotkb:A8K8M3|ensembl:ENSP00000340409 intact:EBI-523958|uniprotkb:B5BU45|uniprotkb:Q5SVL3|uniprotkb:Q13364|uniprotkb:Q96BA0|uniprotkb:Q5SVL0|uniprotkb:Q53YD5|ensembl:ENSP00000298701|ensembl:ENSP00000358321|ensembl:ENSP00000358324|ensembl:ENSP00000480584|uniprotkb:D3DRB8|uniprotkb:B4DQU7 psi-mi:asm_human(display_long)|uniprotkb:SMPD1(gene name)|psi-mi:SMPD1(display_short)|uniprotkb:ASM(gene name synonym)|uniprotkb:Acid sphingomyelinase(gene name synonym) psi-mi:casp7_human(display_long)|uniprotkb:ICE-like apoptotic protease 3(gene name synonym)|uniprotkb:Apoptotic protease Mch-3(gene name synonym)|uniprotkb:CMH-1(gene name synonym)|uniprotkb:CASP7(gene name)|psi-mi:CASP7(display_short)|uniprotkb:MCH3(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0471"(MINT) intact:EBI-8542917|mint:MINT-8095342|imex:IM-15318-1 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001305016.1|refseq:NP_001305017.1|refseq:NP_001007594.2|refseq:NP_000534.3|refseq:XP_011518605.1|ensembl:ENSG00000166311(gene)|ensembl:ENST00000342245(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0004767"(sphingomyelin phosphodiesterase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006684"(sphingomyelin metabolic process)|go:"GO:0006685"(sphingomyelin catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016798"(hydrolase activity, acting on glycosyl bonds)|go:"GO:0008081"(phosphoric diester hydrolase activity)|go:"GO:0023021"(termination of signal transduction)|go:"GO:0034340"(response to type I interferon)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0036019"(endolysosome)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0042060"(wound healing)|go:"GO:0042220"(response to cocaine)|go:"GO:0042493"|go:"GO:0042599"(lamellar body)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0046513"(ceramide biosynthetic process)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0061750"(acid sphingomyelin phosphodiesterase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071277"(cellular response to calcium ion)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR008139(Saposin B)|go:"GO:0009615"(response to virus)|interpro:IPR011001(Saposin-like)|interpro:IPR011160(Sphingomyelin phosphodiesterase)|interpro:IPR029052|interpro:IPR041805|rcsb pdb:5I81|rcsb pdb:5I85|rcsb pdb:5I8R|rcsb pdb:5JG8|reactome:R-HSA-1660662|mint:MINT-8095345(identity) refseq:NP_001218.1|refseq:NP_203124.1|refseq:NP_203125.1|refseq:NP_203126.1|ensembl:ENSG00000165806(gene)|ensembl:ENST00000345633(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|ensembl:ENST00000369315(transcript)|go:"GO:0007507"(heart development)|go:"GO:0007568"(aging)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0009411"(response to UV)|go:"GO:0016485"(protein processing)|go:"GO:0051146"(striated muscle cell differentiation)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0071887"(leukocyte apoptotic process)|go:"GO:0072734"(cellular response to staurosporine)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR015471(Caspase-7)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|mint:P55210|rcsb pdb:1F1J|ensembl:ENST00000369318(transcript)|rcsb pdb:1GQF|ensembl:ENST00000621345(transcript)|rcsb pdb:1I4O|rcsb pdb:1I51|rcsb pdb:1K86|rcsb pdb:1K88|rcsb pdb:1KMC|rcsb pdb:1MIA|rcsb pdb:1SHJ|go:"GO:0004190"(aspartic-type endopeptidase activity)|rcsb pdb:1SHL|rcsb pdb:2QL5|go:"GO:0004197"(cysteine-type endopeptidase activity)|rcsb pdb:2QL7|go:"GO:0005634"(nucleus)|rcsb pdb:2QL9|rcsb pdb:2QLB|rcsb pdb:2QLF|rcsb pdb:2QLJ|rcsb pdb:3EDR|go:"GO:0005654"(nucleoplasm)|rcsb pdb:3H1P|rcsb pdb:3IBC|rcsb pdb:3IBF|rcsb pdb:3R5K|rcsb pdb:4FDL|rcsb pdb:4FEA|rcsb pdb:4HQ0|rcsb pdb:4HQR|rcsb pdb:4JB8|reactome:R-HSA-111464|reactome:R-HSA-111465|reactome:R-HSA-111469|reactome:R-HSA-264870|rcsb pdb:4JJ8|rcsb pdb:4JR1|rcsb pdb:4JR2|rcsb pdb:4LSZ|rcsb pdb:4ZVO|rcsb pdb:4ZVP|rcsb pdb:4ZVQ|rcsb pdb:4ZVR|rcsb pdb:4ZVS|rcsb pdb:4ZVT|rcsb pdb:4ZVU|rcsb pdb:5IC6|rcsb pdb:5K20|rcsb pdb:5V6U|rcsb pdb:5V6Z|reactome:R-HSA-111459|reactome:R-HSA-111463|refseq:NP_001253986.1|refseq:NP_001253987.1|refseq:NP_001253985.1|refseq:NP_001307840.1|dip:DIP-29973N|mint:MINT-8095349(identity) - function:"Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years"|comment:mint|function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol|comment:homomint|function:"Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood" - figure legend:f7a|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2018/09/18 rogid:oi5zZbmEsp7I2/Sc/pulhjF1zcw9606 rogid:XcSWtfWWnuOKIbAR+TXpkCq5fig9606 intact-crc:C11E76C69CFF68A0|rigid:kD3FJBvS3SNmf2gZ9hCHIBbiL8Y false green fluorescent protein tag:?-?(MINT-8095346) - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0113"(western blot) uniprotkb:P17405 uniprotkb:P55210 intact:EBI-7095800|uniprotkb:Q13811|uniprotkb:P17406|uniprotkb:Q16837|intact:MINT-3008689|uniprotkb:Q16841|uniprotkb:E9PKS3|uniprotkb:A8K8M3|ensembl:ENSP00000340409 intact:EBI-523958|uniprotkb:B5BU45|uniprotkb:Q5SVL3|uniprotkb:Q13364|uniprotkb:Q96BA0|uniprotkb:Q5SVL0|uniprotkb:Q53YD5|ensembl:ENSP00000298701|ensembl:ENSP00000358321|ensembl:ENSP00000358324|ensembl:ENSP00000480584|uniprotkb:D3DRB8|uniprotkb:B4DQU7 psi-mi:asm_human(display_long)|uniprotkb:SMPD1(gene name)|psi-mi:SMPD1(display_short)|uniprotkb:ASM(gene name synonym)|uniprotkb:Acid sphingomyelinase(gene name synonym) psi-mi:casp7_human(display_long)|uniprotkb:ICE-like apoptotic protease 3(gene name synonym)|uniprotkb:Apoptotic protease Mch-3(gene name synonym)|uniprotkb:CMH-1(gene name synonym)|uniprotkb:CASP7(gene name)|psi-mi:CASP7(display_short)|uniprotkb:MCH3(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Edelmann et al. (2011) mint:MINT-8095238|pubmed:21157428|imex:IM-15318|doi:10.1038/emboj.2010.326 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0471"(MINT) intact:EBI-8542944|mint:MINT-8095383|imex:IM-15318-3 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001305016.1|refseq:NP_001305017.1|refseq:NP_001007594.2|refseq:NP_000534.3|refseq:XP_011518605.1|ensembl:ENSG00000166311(gene)|ensembl:ENST00000342245(transcript)|go:"GO:0001778"(plasma membrane repair)|go:"GO:0004767"(sphingomyelin phosphodiesterase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0006684"(sphingomyelin metabolic process)|go:"GO:0006685"(sphingomyelin catabolic process)|go:"GO:0006687"(glycosphingolipid metabolic process)|go:"GO:0007165"(signal transduction)|go:"GO:0007399"(nervous system development)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0016798"(hydrolase activity, acting on glycosyl bonds)|go:"GO:0008081"(phosphoric diester hydrolase activity)|go:"GO:0023021"(termination of signal transduction)|go:"GO:0034340"(response to type I interferon)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034644"(cellular response to UV)|go:"GO:0035307"(positive regulation of protein dephosphorylation)|go:"GO:0036019"(endolysosome)|go:"GO:0008203"(cholesterol metabolic process)|go:"GO:0042060"(wound healing)|go:"GO:0042220"(response to cocaine)|go:"GO:0042493"|go:"GO:0042599"(lamellar body)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0045807"(positive regulation of endocytosis)|go:"GO:0046513"(ceramide biosynthetic process)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0061750"(acid sphingomyelin phosphodiesterase activity)|go:"GO:0008270"(zinc ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0071277"(cellular response to calcium ion)|interpro:IPR004843(Metallophosphoesterase)|interpro:IPR008139(Saposin B)|go:"GO:0009615"(response to virus)|interpro:IPR011001(Saposin-like)|interpro:IPR011160(Sphingomyelin phosphodiesterase)|interpro:IPR029052|interpro:IPR041805|rcsb pdb:5I81|rcsb pdb:5I85|rcsb pdb:5I8R|rcsb pdb:5JG8|reactome:R-HSA-1660662|mint:MINT-8095385(identity) refseq:NP_001218.1|refseq:NP_203124.1|refseq:NP_203125.1|refseq:NP_203126.1|ensembl:ENSG00000165806(gene)|ensembl:ENST00000345633(transcript)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006508"(proteolysis)|go:"GO:0006915"(apoptotic process)|ensembl:ENST00000369315(transcript)|go:"GO:0007507"(heart development)|go:"GO:0007568"(aging)|go:"GO:0008233"(peptidase activity)|go:"GO:0008234"(cysteine-type peptidase activity)|go:"GO:0009411"(response to UV)|go:"GO:0016485"(protein processing)|go:"GO:0051146"(striated muscle cell differentiation)|go:"GO:0051402"(neuron apoptotic process)|go:"GO:0071887"(leukocyte apoptotic process)|go:"GO:0072734"(cellular response to staurosporine)|go:"GO:0097153"(cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0097194"(execution phase of apoptosis)|go:"GO:0097200"(cysteine-type endopeptidase activity involved in execution phase of apoptosis)|interpro:IPR001309(Peptidase C14, ICE, catalytic subunit p20)|interpro:IPR002138(Peptidase C14, caspase non-catalytic subunit p10)|interpro:IPR002398(Peptidase C14, caspase precursor p45)|interpro:IPR015471(Caspase-7)|interpro:IPR015917(Peptidase C14, caspase precursor p45, core)|interpro:IPR016129(Peptidase C14, ICE, catalytic subunit p20, active site)|interpro:IPR029030|interpro:IPR033139|mint:P55210|rcsb pdb:1F1J|ensembl:ENST00000369318(transcript)|rcsb pdb:1GQF|ensembl:ENST00000621345(transcript)|rcsb pdb:1I4O|rcsb pdb:1I51|rcsb pdb:1K86|rcsb pdb:1K88|rcsb pdb:1KMC|rcsb pdb:1MIA|rcsb pdb:1SHJ|go:"GO:0004190"(aspartic-type endopeptidase activity)|rcsb pdb:1SHL|rcsb pdb:2QL5|go:"GO:0004197"(cysteine-type endopeptidase activity)|rcsb pdb:2QL7|go:"GO:0005634"(nucleus)|rcsb pdb:2QL9|rcsb pdb:2QLB|rcsb pdb:2QLF|rcsb pdb:2QLJ|rcsb pdb:3EDR|go:"GO:0005654"(nucleoplasm)|rcsb pdb:3H1P|rcsb pdb:3IBC|rcsb pdb:3IBF|rcsb pdb:3R5K|rcsb pdb:4FDL|rcsb pdb:4FEA|rcsb pdb:4HQ0|rcsb pdb:4HQR|rcsb pdb:4JB8|reactome:R-HSA-111464|reactome:R-HSA-111465|reactome:R-HSA-111469|reactome:R-HSA-264870|rcsb pdb:4JJ8|rcsb pdb:4JR1|rcsb pdb:4JR2|rcsb pdb:4LSZ|rcsb pdb:4ZVO|rcsb pdb:4ZVP|rcsb pdb:4ZVQ|rcsb pdb:4ZVR|rcsb pdb:4ZVS|rcsb pdb:4ZVT|rcsb pdb:4ZVU|rcsb pdb:5IC6|rcsb pdb:5K20|rcsb pdb:5V6U|rcsb pdb:5V6Z|reactome:R-HSA-111459|reactome:R-HSA-111463|refseq:NP_001253986.1|refseq:NP_001253987.1|refseq:NP_001253985.1|refseq:NP_001307840.1|dip:DIP-29973N|mint:MINT-8095387(identity) - function:"Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years"|comment:mint|function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol|comment:homomint|function:"Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood" - figure legend:f7b|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-hela)|taxid:9606(Homo sapiens epitheloid cervix carcinoma cells) - 2011/02/16 2018/09/18 rogid:oi5zZbmEsp7I2/Sc/pulhjF1zcw9606 rogid:XcSWtfWWnuOKIbAR+TXpkCq5fig9606 intact-crc:A741C12E8E791CA3|rigid:kD3FJBvS3SNmf2gZ9hCHIBbiL8Y false - - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot)