#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:Q99758 uniprotkb:Q9UQV4 intact:EBI-8309859|uniprotkb:Q6P5P9|ensembl:ENSP00000301732|intact:EBI-28973712|uniprotkb:Q54A95|intact:MINT-6943242|uniprotkb:Q92473|uniprotkb:B2RU09 intact:EBI-3924202|ensembl:ENSP00000265598|uniprotkb:D3DNS4|uniprotkb:O94781|uniprotkb:Q8NEC8 psi-mi:abca3_human(display_long)|uniprotkb:ABCA3(gene name)|psi-mi:ABCA3(display_short)|uniprotkb:ABC3(gene name synonym)|uniprotkb:ATP-binding cassette transporter 3(gene name synonym)|uniprotkb:ABC-C transporter(gene name synonym)|uniprotkb:ATP-binding cassette sub-family A member 3(gene name synonym)|uniprotkb:Xenobiotic-transporting ATPase ABCA3(gene name synonym) psi-mi:lamp3_human(display_long)|uniprotkb:LAMP3(gene name)|psi-mi:LAMP3(display_short)|uniprotkb:DCLAMP(gene name synonym)|uniprotkb:TSC403(gene name synonym)|uniprotkb:DC-lysosome-associated membrane glycoprotein(gene name synonym)|uniprotkb:Protein TSC403(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Engelbrecht et al. (2010) pubmed:20863830|imex:IM-15844|mint:MINT-7996358|doi:10.1016/j.febslet.2010.09.026 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-8309891|mint:MINT-7996380|imex:IM-15844-1 - - 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:ENSP00000301732|ensembl:ENST00000567910|ensembl:ENSP00000454397|ensembl:ENST00000301732(transcript)|go:"GO:0005319"(lipid transporter activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005770"(late endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0006855"(xenobiotic transmembrane transport)|go:"GO:0042599"(lamellar body)|go:"GO:0042626"(ATPase-coupled transmembrane transporter activity)|go:"GO:0042908"(xenobiotic transport)|go:"GO:0043129"(surfactant homeostasis)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044267"(cellular protein metabolic process)|go:"GO:0046470"(phosphatidylcholine metabolic process)|go:"GO:0046471"(phosphatidylglycerol metabolic process)|go:"GO:0046618"(xenobiotic export)|go:"GO:0046890"(regulation of lipid biosynthetic process)|go:"GO:0051384"(response to glucocorticoid)|go:"GO:0055091"(phospholipid homeostasis)|go:"GO:0070925"(organelle assembly)|go:"GO:0097208"(alveolar lamellar body)|go:"GO:0097232"(lamellar body membrane)|go:"GO:0097233"(alveolar lamellar body membrane)|go:"GO:0120019"(phosphatidylcholine transfer activity)|go:"GO:0140345"(phosphatidylcholine flippase activity)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:0150172"(regulation of phosphatidylcholine metabolic process)|go:"GO:1902995"(positive regulation of phospholipid efflux)|go:"GO:2001140"(positive regulation of phospholipid transport)|interpro:IPR003439(ABC transporter-like)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR017871|interpro:IPR026082|interpro:IPR027417|reactome:R-HSA-1369062|reactome:R-HSA-5683678|reactome:R-HSA-5683826|reactome:R-HSA-5688399|go:"GO:0006869"(lipid transport)|go:"GO:0008559"(ABC-type xenobiotic transporter activity)|go:"GO:0010875"(positive regulation of cholesterol efflux)|go:"GO:0015914"(phospholipid transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030324"(lung development)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0032464"(positive regulation of protein homooligomerization)|go:"GO:0032585"(multivesicular body membrane)|go:"GO:0042493"|ensembl:ENSG00000167972(gene)|refseq:NP_001080.2|mint:MINT-7996382(identity) ensembl:ENSG00000078081(gene)|ensembl:ENST00000265598(transcript)|go:"GO:0002250"(adaptive immune response)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005769"(early endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016021"(integral component of membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0031982"(vesicle)|go:"GO:0035455"(response to interferon-alpha)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0072594"(establishment of protein localization to organelle)|go:"GO:0097233"(alveolar lamellar body membrane)|go:"GO:1901799"(negative regulation of proteasomal protein catabolic process)|go:"GO:1903900"(regulation of viral life cycle)|interpro:IPR002000("Lysosome-associated membrane glycoprotein (Lamp)/CD68")|mint:Q9UQV4|refseq:NP_055213.2|rcsb pdb:4AKM|mint:MINT-7996383(identity) go:"GO:0031410"(cytoplasmic vesicle) function:"Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]; also called pulmonary alveolar proteinosis due to ABCA3 deficiency. Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular non-specific interstitial pneumonitis (NSIP)"|comment:mint|function:Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol - figure legend:f3a|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-a_549)|taxid:9606(Homo sapiens Caucasian lung carcinoma cell line) - 2010/09/14 2014/10/16 rogid:T/lNDCvB0ZzI1Kmn7ztkB/5JINU9606 rogid:CguZ4LCmPpk7OwkWp7yqJtRHtGg9606 intact-crc:704A3F3D1C725821|rigid:Q4HpKpDeofIVbtK5fBohR6lNkGg false green fluorescent protein tag:?-?(MINT-7996589) - - - psi-mi:"MI:0867"(tag visualisation by fluorescence) psi-mi:"MI:0422"(immunostaining) uniprotkb:Q99758 uniprotkb:Q9UQV4 intact:EBI-8309859|uniprotkb:Q6P5P9|ensembl:ENSP00000301732|intact:EBI-28973712|uniprotkb:Q54A95|intact:MINT-6943242|uniprotkb:Q92473|uniprotkb:B2RU09 intact:EBI-3924202|ensembl:ENSP00000265598|uniprotkb:D3DNS4|uniprotkb:O94781|uniprotkb:Q8NEC8 psi-mi:abca3_human(display_long)|uniprotkb:ABCA3(gene name)|psi-mi:ABCA3(display_short)|uniprotkb:ABC3(gene name synonym)|uniprotkb:ATP-binding cassette transporter 3(gene name synonym)|uniprotkb:ABC-C transporter(gene name synonym)|uniprotkb:ATP-binding cassette sub-family A member 3(gene name synonym)|uniprotkb:Xenobiotic-transporting ATPase ABCA3(gene name synonym) psi-mi:lamp3_human(display_long)|uniprotkb:LAMP3(gene name)|psi-mi:LAMP3(display_short)|uniprotkb:DCLAMP(gene name synonym)|uniprotkb:TSC403(gene name synonym)|uniprotkb:DC-lysosome-associated membrane glycoprotein(gene name synonym)|uniprotkb:Protein TSC403(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Engelbrecht et al. (2010) pubmed:20863830|imex:IM-15844|mint:MINT-7996358|doi:10.1016/j.febslet.2010.09.026 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-8309908|mint:MINT-7996593|imex:IM-15844-2 - - 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:ENSP00000301732|ensembl:ENST00000567910|ensembl:ENSP00000454397|ensembl:ENST00000301732(transcript)|go:"GO:0005319"(lipid transporter activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005770"(late endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0006855"(xenobiotic transmembrane transport)|go:"GO:0042599"(lamellar body)|go:"GO:0042626"(ATPase-coupled transmembrane transporter activity)|go:"GO:0042908"(xenobiotic transport)|go:"GO:0043129"(surfactant homeostasis)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044267"(cellular protein metabolic process)|go:"GO:0046470"(phosphatidylcholine metabolic process)|go:"GO:0046471"(phosphatidylglycerol metabolic process)|go:"GO:0046618"(xenobiotic export)|go:"GO:0046890"(regulation of lipid biosynthetic process)|go:"GO:0051384"(response to glucocorticoid)|go:"GO:0055091"(phospholipid homeostasis)|go:"GO:0070925"(organelle assembly)|go:"GO:0097208"(alveolar lamellar body)|go:"GO:0097232"(lamellar body membrane)|go:"GO:0097233"(alveolar lamellar body membrane)|go:"GO:0120019"(phosphatidylcholine transfer activity)|go:"GO:0140345"(phosphatidylcholine flippase activity)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:0150172"(regulation of phosphatidylcholine metabolic process)|go:"GO:1902995"(positive regulation of phospholipid efflux)|go:"GO:2001140"(positive regulation of phospholipid transport)|interpro:IPR003439(ABC transporter-like)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR017871|interpro:IPR026082|interpro:IPR027417|reactome:R-HSA-1369062|reactome:R-HSA-5683678|reactome:R-HSA-5683826|reactome:R-HSA-5688399|go:"GO:0006869"(lipid transport)|go:"GO:0008559"(ABC-type xenobiotic transporter activity)|go:"GO:0010875"(positive regulation of cholesterol efflux)|go:"GO:0015914"(phospholipid transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030324"(lung development)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0032464"(positive regulation of protein homooligomerization)|go:"GO:0032585"(multivesicular body membrane)|go:"GO:0042493"|ensembl:ENSG00000167972(gene)|refseq:NP_001080.2|mint:MINT-7996598(identity) ensembl:ENSG00000078081(gene)|ensembl:ENST00000265598(transcript)|go:"GO:0002250"(adaptive immune response)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005769"(early endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016021"(integral component of membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0031982"(vesicle)|go:"GO:0035455"(response to interferon-alpha)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0072594"(establishment of protein localization to organelle)|go:"GO:0097233"(alveolar lamellar body membrane)|go:"GO:1901799"(negative regulation of proteasomal protein catabolic process)|go:"GO:1903900"(regulation of viral life cycle)|interpro:IPR002000("Lysosome-associated membrane glycoprotein (Lamp)/CD68")|mint:Q9UQV4|refseq:NP_055213.2|rcsb pdb:4AKM|mint:MINT-7996622(identity) go:"GO:0031410"(cytoplasmic vesicle) function:"Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]; also called pulmonary alveolar proteinosis due to ABCA3 deficiency. Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular non-specific interstitial pneumonitis (NSIP)"|comment:mint|function:Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol - figure legend:f3b|comment:homomint|comment:mint|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-a_549)|taxid:9606(Homo sapiens Caucasian lung carcinoma cell line) - 2010/09/14 2014/10/16 rogid:T/lNDCvB0ZzI1Kmn7ztkB/5JINU9606 rogid:CguZ4LCmPpk7OwkWp7yqJtRHtGg9606 intact-crc:2F50393D26C53AD1|rigid:Q4HpKpDeofIVbtK5fBohR6lNkGg false yellow fluorescent protein tag:c-c(MINT-7996599) - - - psi-mi:"MI:0867"(tag visualisation by fluorescence) psi-mi:"MI:0422"(immunostaining) uniprotkb:Q99758 uniprotkb:P27824 intact:EBI-8309859|uniprotkb:Q6P5P9|ensembl:ENSP00000301732|intact:EBI-28973712|uniprotkb:Q54A95|intact:MINT-6943242|uniprotkb:Q92473|uniprotkb:B2RU09 intact:EBI-355947|uniprotkb:D3DWQ3|uniprotkb:B2R5V8|ensembl:ENSP00000421434|ensembl:ENSP00000421813|ensembl:ENSP00000424063|ensembl:ENSP00000424745|ensembl:ENSP00000491760|ensembl:ENSP00000492372|ensembl:ENSP00000492868|ensembl:ENSP00000505013|ensembl:ENSP00000505202|ensembl:ENSP00000505526|ensembl:ENSP00000505960|ensembl:ENSP00000506003|ensembl:ENSP00000506021|ensembl:ENSP00000506061|ensembl:ENSP00000506078|ensembl:ENSP00000506509|ensembl:ENSP00000506568|ensembl:ENSP00000506583|ensembl:ENSP00000247461|ensembl:ENSP00000391646|intact:EBI-9513217|uniprotkb:B4DGP8|uniprotkb:B4E2T8|uniprotkb:D6R9K3 psi-mi:abca3_human(display_long)|uniprotkb:ABCA3(gene name)|psi-mi:ABCA3(display_short)|uniprotkb:ABC3(gene name synonym)|uniprotkb:ATP-binding cassette transporter 3(gene name synonym)|uniprotkb:ABC-C transporter(gene name synonym)|uniprotkb:ATP-binding cassette sub-family A member 3(gene name synonym)|uniprotkb:Xenobiotic-transporting ATPase ABCA3(gene name synonym) psi-mi:calx_human(display_long)|uniprotkb:CANX(gene name)|psi-mi:CANX(display_short)|uniprotkb:Major histocompatibility complex class I antigen-binding protein p88(gene name synonym)|uniprotkb:p90(gene name synonym)|uniprotkb:IP90(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Engelbrecht et al. (2010) pubmed:20863830|imex:IM-15844|mint:MINT-7996358|doi:10.1016/j.febslet.2010.09.026 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-8309967|mint:MINT-7996633|imex:IM-15844-4 - - 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:ENSP00000301732|ensembl:ENST00000567910|ensembl:ENSP00000454397|ensembl:ENST00000301732(transcript)|go:"GO:0005319"(lipid transporter activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005770"(late endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0006855"(xenobiotic transmembrane transport)|go:"GO:0042599"(lamellar body)|go:"GO:0042626"(ATPase-coupled transmembrane transporter activity)|go:"GO:0042908"(xenobiotic transport)|go:"GO:0043129"(surfactant homeostasis)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044267"(cellular protein metabolic process)|go:"GO:0046470"(phosphatidylcholine metabolic process)|go:"GO:0046471"(phosphatidylglycerol metabolic process)|go:"GO:0046618"(xenobiotic export)|go:"GO:0046890"(regulation of lipid biosynthetic process)|go:"GO:0051384"(response to glucocorticoid)|go:"GO:0055091"(phospholipid homeostasis)|go:"GO:0070925"(organelle assembly)|go:"GO:0097208"(alveolar lamellar body)|go:"GO:0097232"(lamellar body membrane)|go:"GO:0097233"(alveolar lamellar body membrane)|go:"GO:0120019"(phosphatidylcholine transfer activity)|go:"GO:0140345"(phosphatidylcholine flippase activity)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:0150172"(regulation of phosphatidylcholine metabolic process)|go:"GO:1902995"(positive regulation of phospholipid efflux)|go:"GO:2001140"(positive regulation of phospholipid transport)|interpro:IPR003439(ABC transporter-like)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR017871|interpro:IPR026082|interpro:IPR027417|reactome:R-HSA-1369062|reactome:R-HSA-5683678|reactome:R-HSA-5683826|reactome:R-HSA-5688399|go:"GO:0006869"(lipid transport)|go:"GO:0008559"(ABC-type xenobiotic transporter activity)|go:"GO:0010875"(positive regulation of cholesterol efflux)|go:"GO:0015914"(phospholipid transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030324"(lung development)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0032464"(positive regulation of protein homooligomerization)|go:"GO:0032585"(multivesicular body membrane)|go:"GO:0042493"|ensembl:ENSG00000167972(gene)|refseq:NP_001080.2|mint:MINT-7996638(identity) refseq:NP_001019820.1|refseq:NP_001737.1|refseq:XP_011532967.1|go:"GO:0099059"(integral component of presynaptic active zone membrane)|interpro:IPR001580(Calreticulin/calnexin)|interpro:IPR009033(Calreticulin/calnexin, P)|interpro:IPR013320(Concanavalin A-like lectin/glucanase, subgroup)|interpro:IPR018124|mint:P27824|reactome:R-HSA-168316|reactome:R-HSA-2132295|reactome:R-HSA-8984722|reactome:R-HSA-901042|reactome:R-HSA-9020956|reactome:R-HSA-9683686|reactome:R-HSA-9694548|reactome:R-HSA-983170|ensembl:ENST00000452673(transcript)|ensembl:ENST00000502296(transcript)|ensembl:ENST00000504734(transcript)|ensembl:ENST00000509563(transcript)|ensembl:ENST00000513246(transcript)|ensembl:ENST00000638425(transcript)|ensembl:ENST00000638706(transcript)|ensembl:ENST00000639938(transcript)|ensembl:ENST00000680013(transcript)|ensembl:ENST00000680042(transcript)|ensembl:ENST00000680092(transcript)|ensembl:ENST00000680618(transcript)|ensembl:ENST00000681072(transcript)|ensembl:ENST00000681168(transcript)|ensembl:ENST00000681476(transcript)|ensembl:ENST00000681674(transcript)|ensembl:ENST00000681712(transcript)|ensembl:ENST00000681733(transcript)|ensembl:ENST00000681903(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005790"(smooth endoplasmic reticulum)|ensembl:ENST00000247461(transcript)|go:"GO:0005840"(ribosome)|go:"GO:0006457"(protein folding)|go:"GO:0007568"(aging)|go:"GO:0009306"(protein secretion)|go:"GO:0016020"(membrane)|go:"GO:0019082"(viral protein processing)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030424"(axon)|go:"GO:0030968"(endoplasmic reticulum unfolded protein response)|go:"GO:0032839"(dendrite cytoplasm)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034185"(apolipoprotein binding)|go:"GO:0034975"(protein folding in endoplasmic reticulum)|go:"GO:0035255"(ionotropic glutamate receptor binding)|go:"GO:0042470"(melanosome)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0044233"(mitochondria-associated endoplasmic reticulum membrane)|go:"GO:0044322"(endoplasmic reticulum quality control compartment)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0051082"(unfolded protein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071556"(integral component of lumenal side of endoplasmic reticulum membrane)|go:"GO:0072583"(clathrin-dependent endocytosis)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099055"(integral component of postsynaptic membrane)|go:"GO:0005791"(rough endoplasmic reticulum)|ensembl:ENSG00000127022(gene)|ensembl:ENSG00000283777(gene)|dip:DIP-457N|mint:MINT-7996646(identity) go:"GO:0005783"(endoplasmic reticulum) function:"Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]; also called pulmonary alveolar proteinosis due to ABCA3 deficiency. Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular non-specific interstitial pneumonitis (NSIP)"|comment:mint|function:Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol - comment:homomint|comment:mint|figure legend:4b|comment:"Localization studies in A549 cells stably expressing WT, Q215K or E292V proteins with C-terminal HA-tag showed that the E292V mutant colocalized properly with the MVB/LB protein LAMP3 (Fig. 4A) but not with the ER protein calnexin (Fig. 4B). Q215K mutant remained in the ER compartment, overlapping with calnexin (Fig. 4B) and showing no colocalization with LAMP3 (Fig. 4A). Only mutated ABCA3 (Q215K) colocalize with Calnexin while wild-type ABCA3 only colocalizes with Calnexin while being processed and trafficked through the cell to its final destination."|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-a_549)|taxid:9606(Homo sapiens Caucasian lung carcinoma cell line) - 2010/09/14 2014/10/16 rogid:T/lNDCvB0ZzI1Kmn7ztkB/5JINU9606 rogid:Vy9HZjl19IXifyFpueW0LXi9ENk9606 intact-crc:5E64D7AF297E511A|rigid:/yo/nYoHhicwoeCLZ3ExB1WIbuI false mutation increasing interaction:215-215(MINT-7996639)|ha tag:?-?(MINT-7996641) - - - psi-mi:"MI:0707"(anti tag immunostaining) psi-mi:"MI:0422"(immunostaining) uniprotkb:Q99758 uniprotkb:Q9UQV4 intact:EBI-8309859|uniprotkb:Q6P5P9|ensembl:ENSP00000301732|intact:EBI-28973712|uniprotkb:Q54A95|intact:MINT-6943242|uniprotkb:Q92473|uniprotkb:B2RU09 intact:EBI-3924202|ensembl:ENSP00000265598|uniprotkb:D3DNS4|uniprotkb:O94781|uniprotkb:Q8NEC8 psi-mi:abca3_human(display_long)|uniprotkb:ABCA3(gene name)|psi-mi:ABCA3(display_short)|uniprotkb:ABC3(gene name synonym)|uniprotkb:ATP-binding cassette transporter 3(gene name synonym)|uniprotkb:ABC-C transporter(gene name synonym)|uniprotkb:ATP-binding cassette sub-family A member 3(gene name synonym)|uniprotkb:Xenobiotic-transporting ATPase ABCA3(gene name synonym) psi-mi:lamp3_human(display_long)|uniprotkb:LAMP3(gene name)|psi-mi:LAMP3(display_short)|uniprotkb:DCLAMP(gene name synonym)|uniprotkb:TSC403(gene name synonym)|uniprotkb:DC-lysosome-associated membrane glycoprotein(gene name synonym)|uniprotkb:Protein TSC403(gene name synonym) psi-mi:"MI:0416"(fluorescence microscopy) Engelbrecht et al. (2010) pubmed:20863830|imex:IM-15844|mint:MINT-7996358|doi:10.1016/j.febslet.2010.09.026 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-8309925|mint:MINT-7996607|imex:IM-15844-3 - - 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:ENSP00000301732|ensembl:ENST00000567910|ensembl:ENSP00000454397|ensembl:ENST00000301732(transcript)|go:"GO:0005319"(lipid transporter activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005770"(late endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0006855"(xenobiotic transmembrane transport)|go:"GO:0042599"(lamellar body)|go:"GO:0042626"(ATPase-coupled transmembrane transporter activity)|go:"GO:0042908"(xenobiotic transport)|go:"GO:0043129"(surfactant homeostasis)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044267"(cellular protein metabolic process)|go:"GO:0046470"(phosphatidylcholine metabolic process)|go:"GO:0046471"(phosphatidylglycerol metabolic process)|go:"GO:0046618"(xenobiotic export)|go:"GO:0046890"(regulation of lipid biosynthetic process)|go:"GO:0051384"(response to glucocorticoid)|go:"GO:0055091"(phospholipid homeostasis)|go:"GO:0070925"(organelle assembly)|go:"GO:0097208"(alveolar lamellar body)|go:"GO:0097232"(lamellar body membrane)|go:"GO:0097233"(alveolar lamellar body membrane)|go:"GO:0120019"(phosphatidylcholine transfer activity)|go:"GO:0140345"(phosphatidylcholine flippase activity)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:0150172"(regulation of phosphatidylcholine metabolic process)|go:"GO:1902995"(positive regulation of phospholipid efflux)|go:"GO:2001140"(positive regulation of phospholipid transport)|interpro:IPR003439(ABC transporter-like)|interpro:IPR003593(AAA+ ATPase, core)|interpro:IPR017871|interpro:IPR026082|interpro:IPR027417|reactome:R-HSA-1369062|reactome:R-HSA-5683678|reactome:R-HSA-5683826|reactome:R-HSA-5688399|go:"GO:0006869"(lipid transport)|go:"GO:0008559"(ABC-type xenobiotic transporter activity)|go:"GO:0010875"(positive regulation of cholesterol efflux)|go:"GO:0015914"(phospholipid transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030324"(lung development)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0032464"(positive regulation of protein homooligomerization)|go:"GO:0032585"(multivesicular body membrane)|go:"GO:0042493"|ensembl:ENSG00000167972(gene)|refseq:NP_001080.2|mint:MINT-7996610(identity) ensembl:ENSG00000078081(gene)|ensembl:ENST00000265598(transcript)|go:"GO:0002250"(adaptive immune response)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005769"(early endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016021"(integral component of membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0031982"(vesicle)|go:"GO:0035455"(response to interferon-alpha)|go:"GO:0043154"(negative regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0072594"(establishment of protein localization to organelle)|go:"GO:0097233"(alveolar lamellar body membrane)|go:"GO:1901799"(negative regulation of proteasomal protein catabolic process)|go:"GO:1903900"(regulation of viral life cycle)|interpro:IPR002000("Lysosome-associated membrane glycoprotein (Lamp)/CD68")|mint:Q9UQV4|refseq:NP_055213.2|rcsb pdb:4AKM|mint:MINT-7996614(identity) go:"GO:0031410"(cytoplasmic vesicle) function:"Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]; also called pulmonary alveolar proteinosis due to ABCA3 deficiency. Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular non-specific interstitial pneumonitis (NSIP)"|comment:mint|function:Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol - comment:homomint|comment:mint|figure legend:4a|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-a_549)|taxid:9606(Homo sapiens Caucasian lung carcinoma cell line) - 2010/09/14 2014/10/16 rogid:T/lNDCvB0ZzI1Kmn7ztkB/5JINU9606 rogid:CguZ4LCmPpk7OwkWp7yqJtRHtGg9606 intact-crc:1EA8991D994B6F59|rigid:Q4HpKpDeofIVbtK5fBohR6lNkGg false mutation disrupting interaction:215-215(MINT-7996627)|ha tag:?-?(MINT-7996611) - - - psi-mi:"MI:0707"(anti tag immunostaining) psi-mi:"MI:0422"(immunostaining)