#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:Q9NQG7 uniprotkb:Q92902 intact:EBI-704377|uniprotkb:Q5H8V6|uniprotkb:Q96LX6|uniprotkb:Q9BY93|uniprotkb:Q9UH37|uniprotkb:Q9UH38|uniprotkb:B1AHQ4|ensembl:ENSP00000338457|ensembl:ENSP00000381213 intact:EBI-704347|uniprotkb:A8MRT2|uniprotkb:O15402|uniprotkb:O15502|uniprotkb:Q5TAA3|uniprotkb:Q8WXE5|ensembl:ENSP00000326649|ensembl:ENSP00000355310 psi-mi:hps4_human(display_long)|uniprotkb:Light-ear protein homolog(gene name synonym)|uniprotkb:HPS4(gene name)|psi-mi:HPS4(display_short)|uniprotkb:KIAA1667(gene name synonym) psi-mi:hps1_human(display_long)|uniprotkb:HPS1(gene name)|psi-mi:HPS1(display_short)|uniprotkb:HPS(gene name synonym) psi-mi:"MI:0071"(molecular sieving) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22235647|imex:IM-27539-1 - - 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) refseq:NP_071364.4|refseq:NP_690054.1|refseq:XP_016884531.1|refseq:XP_016884532.1|refseq:XP_016884533.1|ensembl:ENSP00000338457|ensembl:ENSP00000381213|ensembl:ENST00000402105|ensembl:ENSP00000384185|ensembl:ENSG00000100099(gene)|ensembl:ENST00000336873(transcript)|ensembl:ENST00000398145(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0006605"(protein targeting)|go:"GO:0007040"(lysosome organization)|go:"GO:0007596"(blood coagulation)|go:"GO:0007599"(hemostasis)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0030318"(melanocyte differentiation)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0042470"(melanosome)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042827"(platelet dense granule)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0048075"(positive regulation of eye pigmentation)|go:"GO:0050821"(protein stabilization)|go:"GO:1903232"(melanosome assembly)|go:"GO:1903955"(positive regulation of protein targeting to mitochondrion)|interpro:IPR026091|interpro:IPR043987|interpro:IPR043989|reactome:R-HSA-8876198 refseq:NP_000186.2|refseq:NP_872577.1|refseq:XP_005269814.1|refseq:NP_001309405.1|refseq:NP_001309406.1|refseq:NP_001309407.1|refseq:NP_001309408.1|ensembl:ENSG00000107521(gene)|ensembl:ENST00000325103(transcript)|ensembl:ENST00000361490(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005829"(cytosol)|go:"GO:0007040"(lysosome organization)|go:"GO:0007601"(visual perception)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0050896"(response to stimulus)|go:"GO:1903232"(melanosome assembly)|interpro:IPR026053|interpro:IPR043970|interpro:IPR043971|interpro:IPR043972|reactome:R-HSA-8876198 - - - figure legend:Fig. 1A-B, Fig. 2B-E, Fig. 3A-B|comment:"SDS-PAGE and Coomassie Blue staining of the peak fractions revealed the presence of both HPS1 and HPS4 in roughly equimolar quantities (Fig. 1B). Given the predicted molecular masses of 79 and 77 kDa for the HPS1 and HPS4 polypeptides, respectively, the apparent molecular mass of 440 kDa suggests either a multimeric assembly or an elongated 1:1 complex"|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/02 rogid:VE5iGhD6vzr9dPNHgiAeK2G05Ik9606 rogid:Gxa0wiFS4pOWy9dRTgcXNm5BiQI9606 rigid:yU7eHQoz5mivFs+ClQ8zpObOrXQ false sufficient binding region:1-274,534-708 sufficient binding region:1-700 1 1 psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) uniprotkb:Q9NQG7 uniprotkb:Q9NQG7 intact:EBI-704377|uniprotkb:Q5H8V6|uniprotkb:Q96LX6|uniprotkb:Q9BY93|uniprotkb:Q9UH37|uniprotkb:Q9UH38|uniprotkb:B1AHQ4|ensembl:ENSP00000338457|ensembl:ENSP00000381213 intact:EBI-704377|uniprotkb:Q5H8V6|uniprotkb:Q96LX6|uniprotkb:Q9BY93|uniprotkb:Q9UH37|uniprotkb:Q9UH38|uniprotkb:B1AHQ4|ensembl:ENSP00000338457|ensembl:ENSP00000381213 psi-mi:hps4_human(display_long)|uniprotkb:Light-ear protein homolog(gene name synonym)|uniprotkb:HPS4(gene name)|psi-mi:HPS4(display_short)|uniprotkb:KIAA1667(gene name synonym) psi-mi:hps4_human(display_long)|uniprotkb:Light-ear protein homolog(gene name synonym)|uniprotkb:HPS4(gene name)|psi-mi:HPS4(display_short)|uniprotkb:KIAA1667(gene name synonym) psi-mi:"MI:0071"(molecular sieving) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22273604|imex:IM-27539-13 - - 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_071364.4|refseq:NP_690054.1|refseq:XP_016884531.1|refseq:XP_016884532.1|refseq:XP_016884533.1|ensembl:ENSP00000338457|ensembl:ENSP00000381213|ensembl:ENST00000402105|ensembl:ENSP00000384185|ensembl:ENSG00000100099(gene)|ensembl:ENST00000336873(transcript)|ensembl:ENST00000398145(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0006605"(protein targeting)|go:"GO:0007040"(lysosome organization)|go:"GO:0007596"(blood coagulation)|go:"GO:0007599"(hemostasis)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0030318"(melanocyte differentiation)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0042470"(melanosome)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042827"(platelet dense granule)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0048075"(positive regulation of eye pigmentation)|go:"GO:0050821"(protein stabilization)|go:"GO:1903232"(melanosome assembly)|go:"GO:1903955"(positive regulation of protein targeting to mitochondrion)|interpro:IPR026091|interpro:IPR043987|interpro:IPR043989|reactome:R-HSA-8876198 refseq:NP_071364.4|refseq:NP_690054.1|refseq:XP_016884531.1|refseq:XP_016884532.1|refseq:XP_016884533.1|ensembl:ENSP00000338457|ensembl:ENSP00000381213|ensembl:ENST00000402105|ensembl:ENSP00000384185|ensembl:ENSG00000100099(gene)|ensembl:ENST00000336873(transcript)|ensembl:ENST00000398145(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0006605"(protein targeting)|go:"GO:0007040"(lysosome organization)|go:"GO:0007596"(blood coagulation)|go:"GO:0007599"(hemostasis)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0030318"(melanocyte differentiation)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0042470"(melanosome)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042827"(platelet dense granule)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0048075"(positive regulation of eye pigmentation)|go:"GO:0050821"(protein stabilization)|go:"GO:1903232"(melanosome assembly)|go:"GO:1903955"(positive regulation of protein targeting to mitochondrion)|interpro:IPR026091|interpro:IPR043987|interpro:IPR043989|reactome:R-HSA-8876198 - - - figure legend:Fig. 3E|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/05 rogid:VE5iGhD6vzr9dPNHgiAeK2G05Ik9606 rogid:VE5iGhD6vzr9dPNHgiAeK2G05Ik9606 rigid:/hAsYgzn9E/R/1X251xSZx+ZeDw false sufficient binding region:1-218 sufficient binding region:1-218 - - psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) uniprotkb:Q9NQG7 uniprotkb:Q92902 intact:EBI-704377|uniprotkb:Q5H8V6|uniprotkb:Q96LX6|uniprotkb:Q9BY93|uniprotkb:Q9UH37|uniprotkb:Q9UH38|uniprotkb:B1AHQ4|ensembl:ENSP00000338457|ensembl:ENSP00000381213 intact:EBI-704347|uniprotkb:A8MRT2|uniprotkb:O15402|uniprotkb:O15502|uniprotkb:Q5TAA3|uniprotkb:Q8WXE5|ensembl:ENSP00000326649|ensembl:ENSP00000355310 psi-mi:hps4_human(display_long)|uniprotkb:Light-ear protein homolog(gene name synonym)|uniprotkb:HPS4(gene name)|psi-mi:HPS4(display_short)|uniprotkb:KIAA1667(gene name synonym) psi-mi:hps1_human(display_long)|uniprotkb:HPS1(gene name)|psi-mi:HPS1(display_short)|uniprotkb:HPS(gene name synonym) psi-mi:"MI:0028"(cosedimentation in solution) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22235665|imex:IM-27539-3 - - 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) refseq:NP_071364.4|refseq:NP_690054.1|refseq:XP_016884531.1|refseq:XP_016884532.1|refseq:XP_016884533.1|ensembl:ENSP00000338457|ensembl:ENSP00000381213|ensembl:ENST00000402105|ensembl:ENSP00000384185|ensembl:ENSG00000100099(gene)|ensembl:ENST00000336873(transcript)|ensembl:ENST00000398145(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0006605"(protein targeting)|go:"GO:0007040"(lysosome organization)|go:"GO:0007596"(blood coagulation)|go:"GO:0007599"(hemostasis)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0030318"(melanocyte differentiation)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0042470"(melanosome)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042827"(platelet dense granule)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0048075"(positive regulation of eye pigmentation)|go:"GO:0050821"(protein stabilization)|go:"GO:1903232"(melanosome assembly)|go:"GO:1903955"(positive regulation of protein targeting to mitochondrion)|interpro:IPR026091|interpro:IPR043987|interpro:IPR043989|reactome:R-HSA-8876198 refseq:NP_000186.2|refseq:NP_872577.1|refseq:XP_005269814.1|refseq:NP_001309405.1|refseq:NP_001309406.1|refseq:NP_001309407.1|refseq:NP_001309408.1|ensembl:ENSG00000107521(gene)|ensembl:ENST00000325103(transcript)|ensembl:ENST00000361490(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005829"(cytosol)|go:"GO:0007040"(lysosome organization)|go:"GO:0007601"(visual perception)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0050896"(response to stimulus)|go:"GO:1903232"(melanosome assembly)|interpro:IPR026053|interpro:IPR043970|interpro:IPR043971|interpro:IPR043972|reactome:R-HSA-8876198 - - - figure legend:Fig. 1C|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/02 rogid:VE5iGhD6vzr9dPNHgiAeK2G05Ik9606 rogid:Gxa0wiFS4pOWy9dRTgcXNm5BiQI9606 rigid:yU7eHQoz5mivFs+ClQ8zpObOrXQ false - - 1 1 psi-mi:"MI:0396"(predetermined participant) psi-mi:"MI:0396"(predetermined participant) uniprotkb:P51151 uniprotkb:Q9NQG7 intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 intact:EBI-704377|uniprotkb:Q5H8V6|uniprotkb:Q96LX6|uniprotkb:Q9BY93|uniprotkb:Q9UH37|uniprotkb:Q9UH38|uniprotkb:B1AHQ4|ensembl:ENSP00000338457|ensembl:ENSP00000381213 psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:hps4_human(display_long)|uniprotkb:Light-ear protein homolog(gene name synonym)|uniprotkb:HPS4(gene name)|psi-mi:HPS4(display_short)|uniprotkb:KIAA1667(gene name synonym) psi-mi:"MI:0018"(two hybrid) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-22235713|imex:IM-27539-5 - - 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:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 refseq:NP_071364.4|refseq:NP_690054.1|refseq:XP_016884531.1|refseq:XP_016884532.1|refseq:XP_016884533.1|ensembl:ENSP00000338457|ensembl:ENSP00000381213|ensembl:ENST00000402105|ensembl:ENSP00000384185|ensembl:ENSG00000100099(gene)|ensembl:ENST00000336873(transcript)|ensembl:ENST00000398145(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0006605"(protein targeting)|go:"GO:0007040"(lysosome organization)|go:"GO:0007596"(blood coagulation)|go:"GO:0007599"(hemostasis)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0030318"(melanocyte differentiation)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0042470"(melanosome)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042827"(platelet dense granule)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0048075"(positive regulation of eye pigmentation)|go:"GO:0050821"(protein stabilization)|go:"GO:1903232"(melanosome assembly)|go:"GO:1903955"(positive regulation of protein targeting to mitochondrion)|interpro:IPR026091|interpro:IPR043987|interpro:IPR043989|reactome:R-HSA-8876198 - - - figure legend:Fig. 4A-B, Fig. 7B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2019/12/02 2019/12/02 rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 rogid:VE5iGhD6vzr9dPNHgiAeK2G05Ik9606 rigid:op6SGpHMBIJyPXmmUPIcEHO4PHQ false mutation with no effect:66-66|mutation disrupting interaction strength:66-66,61-61|mutation with no effect:66-66,76-76|mutation with no effect:66-66,42-42|mutation with no effect:66-66,72-72|mutation with no effect:66-66,34-34|mutation with no effect:66-66,35-35|mutation with no effect:66-66,38-38|mutation with no effect:66-66,111-114|mutation disrupting interaction strength:66-66,44-44|mutation disrupting interaction strength:66-66,40-40 - - - psi-mi:"MI:0396"(predetermined participant) psi-mi:"MI:0396"(predetermined participant) uniprotkb:Q9NP90 uniprotkb:Q9NQG7 intact:EBI-2367177|uniprotkb:B2R8M0|uniprotkb:Q52LX2|ensembl:ENSP00000243298 intact:EBI-704377|uniprotkb:Q5H8V6|uniprotkb:Q96LX6|uniprotkb:Q9BY93|uniprotkb:Q9UH37|uniprotkb:Q9UH38|uniprotkb:B1AHQ4|ensembl:ENSP00000338457|ensembl:ENSP00000381213 psi-mi:rab9b_human(display_long)|uniprotkb:RAB9B(gene name)|psi-mi:RAB9B(display_short)|uniprotkb:RAB9L(gene name synonym)|uniprotkb:Rab-9-like protein(gene name synonym) psi-mi:hps4_human(display_long)|uniprotkb:Light-ear protein homolog(gene name synonym)|uniprotkb:HPS4(gene name)|psi-mi:HPS4(display_short)|uniprotkb:KIAA1667(gene name synonym) psi-mi:"MI:0018"(two hybrid) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-22235720|imex:IM-27539-7 - - 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_057454.1|ensembl:ENSG00000123570(gene)|ensembl:ENST00000243298(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042802"(identical protein binding)|go:"GO:0045335"(phagocytic vesicle)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|rcsb pdb:2OCB|reactome:R-HSA-6798695|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 refseq:NP_071364.4|refseq:NP_690054.1|refseq:XP_016884531.1|refseq:XP_016884532.1|refseq:XP_016884533.1|ensembl:ENSP00000338457|ensembl:ENSP00000381213|ensembl:ENST00000402105|ensembl:ENSP00000384185|ensembl:ENSG00000100099(gene)|ensembl:ENST00000336873(transcript)|ensembl:ENST00000398145(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0006605"(protein targeting)|go:"GO:0007040"(lysosome organization)|go:"GO:0007596"(blood coagulation)|go:"GO:0007599"(hemostasis)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0030318"(melanocyte differentiation)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0042470"(melanosome)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042827"(platelet dense granule)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0048075"(positive regulation of eye pigmentation)|go:"GO:0050821"(protein stabilization)|go:"GO:1903232"(melanosome assembly)|go:"GO:1903955"(positive regulation of protein targeting to mitochondrion)|interpro:IPR026091|interpro:IPR043987|interpro:IPR043989|reactome:R-HSA-8876198 - - - figure legend:Fig. 4B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2019/12/02 2019/12/02 rogid:x0YtoY4ikR8iwKFvzMIbyKUtaNY9606 rogid:VE5iGhD6vzr9dPNHgiAeK2G05Ik9606 rigid:JX4SIC0Uple5Vy/g1bSRzYjyUi8 false mutation:66-66 - - - psi-mi:"MI:0396"(predetermined participant) psi-mi:"MI:0396"(predetermined participant) chebi:"CHEBI:15996" uniprotkb:P51151 intact:EBI-989053|chebi:"CHEBI:42934"|chebi:"CHEBI:5234"|chebi:"CHEBI:13342"|chebi:"CHEBI:24451" intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 psi-mi:gtp(display_short)|psi-mi:"CHEBI:15996"(display_long)|intact:5'-GTP(synonym)|intact:GTP(synonym)|intact:Guanosine 5'-triphosphate(synonym)|intact:guanosine 5'-triphosphoric acid(synonym)|intact:guanosine triphosphate(synonym)|intact:GUANOSINE-5'-TRIPHOSPHATE(synonym)|intact:H4gtp(synonym)|intact:"guanosine 5'-(tetrahydrogen triphosphate)"(iupac name) psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:-2(chemical synthesis)|taxid:-2("Chemical synthesis (Chemical synthesis)") taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22235789|imex:IM-27539-9 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0682"(cofactor) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0496"(bait) psi-mi:"MI:0328"(small molecule) psi-mi:"MI:0326"(protein) - refseq:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 - author-identifiers:"InChI=1/C10H16N5O14P3/c11-10-13-7-4(8(18)14-10)12-2-15(7)9-6(17)5(16)3(27-9)1-26-31(22,23)29-32(24,25)28-30(19,20)21/h2-3,5-6,9,16-17H,1H2,(H,22,23)(H,24,25)(H2,19,20,21)(H3,11,13,14,18)/t3-,5-,6-,9-/m1/s1/f/h14,19-20,22,24H,11H2" - figure legend:Fig. 5|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) kd:82.0x10^-9 ~11.0(molar) 2019/12/02 2019/12/05 - rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 - false binding-associated region:?-? mutation:66-66|binding-associated region:?-?|glutathione s tranferase tag:n-n - 1 psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) uniprotkb:P51151 reactome:R-HSA-8877746 intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 intact:EBI-22228063 psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:bloc3_human(display_short)|psi-mi:R-HSA-8877746(display_long)|intact:BLOC-3 complex(complex recommended name)|intact:"HPS1:HPS4"(complex systematic name)|intact:Biogenesis of Lysosome-related Organelles Complex-3(complex synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22235789|imex:IM-27539-9 - 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:1302"(stable complex) refseq:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 go:"GO:0060155"(platelet dense granule organization)|pubmed:23247405(see-also)|pubmed:23174301(see-also)|intact:EBI-704408(exp-evidence)|complex portal:CPX-5043(complex-primary)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0005737"(cytoplasm)|efo:"Orphanet:79430"(see-also)|pubmed:23726022(see-also)|go:"GO:0046907"(intracellular transport)|pubmed:20048159(see-also)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|pubmed:30387913(see-also)|go:"GO:1903232"(melanosome assembly)|evidence ontology:"ECO:0000353" - - curated-complex:"A guanine exchange factor (GEF) complex required for the biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. Acts as GEF for RAB32 (Q13637) and RAB38 (P57729), promoting the exchange of GDP to GTP, converting them into an active GTP-bound form and inducing their recruitment to membrane. Once active, both interact with the AP-1 (CPX-5047, CPX-5048 and CPX-5049), the AP-3 (CPX-5051 and CPX-5052) and the BLOC-2 (CPX-5044) adapter complexes, to regulate cargo delivery to nascent melanosomes and platelet dense granules. Mutations in HPS1 are the most frequent cause of Hermansky-Pudlak syndrome."|complex-properties:"HPS1 and HPS4 interact directly to form a 1:1 heterodimer with an asymmetric shape. MW: 140- 175 kDa The Leu668Pro HPS1 mutant appears to be functionally incapable of assembling with HPS4 in the BLOC-3 protein complex."|disease:"Hermansky-Pudlak syndrome [Orphanet:79430]: Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity."|assembly:Heterodimer figure legend:Fig. 5|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) kd:82.0x10^-9 ~11.0(molar) 2019/12/02 2019/12/05 rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 - - false mutation:66-66|binding-associated region:?-?|glutathione s tranferase tag:n-n sufficient binding region:1-274,534-708 1 1 psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) chebi:"CHEBI:43000" uniprotkb:P51151 intact:EBI-1388758 intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 psi-mi:guanosine 5'-[gamma-thio]triphosphate(display_short)|psi-mi:"CHEBI:43000"(display_long) psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:-2(chemical synthesis)|taxid:-2("Chemical synthesis (Chemical synthesis)") taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22273639|imex:IM-27539-15 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0682"(cofactor) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0496"(bait) psi-mi:"MI:0328"(small molecule) psi-mi:"MI:0326"(protein) - refseq:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 - - - figure legend:Fig. 6A|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/05 - rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 - false binding-associated region:?-? binding-associated region:?-?|glutathione s tranferase tag:n-n - - psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) uniprotkb:P51151 reactome:R-HSA-8877746 intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 intact:EBI-22228063 psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:bloc3_human(display_short)|psi-mi:R-HSA-8877746(display_long)|intact:BLOC-3 complex(complex recommended name)|intact:"HPS1:HPS4"(complex systematic name)|intact:Biogenesis of Lysosome-related Organelles Complex-3(complex synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22273639|imex:IM-27539-15 - 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:1302"(stable complex) refseq:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 go:"GO:0060155"(platelet dense granule organization)|pubmed:23247405(see-also)|pubmed:23174301(see-also)|intact:EBI-704408(exp-evidence)|complex portal:CPX-5043(complex-primary)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0005737"(cytoplasm)|efo:"Orphanet:79430"(see-also)|pubmed:23726022(see-also)|go:"GO:0046907"(intracellular transport)|pubmed:20048159(see-also)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|pubmed:30387913(see-also)|go:"GO:1903232"(melanosome assembly)|evidence ontology:"ECO:0000353" - - curated-complex:"A guanine exchange factor (GEF) complex required for the biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. Acts as GEF for RAB32 (Q13637) and RAB38 (P57729), promoting the exchange of GDP to GTP, converting them into an active GTP-bound form and inducing their recruitment to membrane. Once active, both interact with the AP-1 (CPX-5047, CPX-5048 and CPX-5049), the AP-3 (CPX-5051 and CPX-5052) and the BLOC-2 (CPX-5044) adapter complexes, to regulate cargo delivery to nascent melanosomes and platelet dense granules. Mutations in HPS1 are the most frequent cause of Hermansky-Pudlak syndrome."|complex-properties:"HPS1 and HPS4 interact directly to form a 1:1 heterodimer with an asymmetric shape. MW: 140- 175 kDa The Leu668Pro HPS1 mutant appears to be functionally incapable of assembling with HPS4 in the BLOC-3 protein complex."|disease:"Hermansky-Pudlak syndrome [Orphanet:79430]: Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity."|assembly:Heterodimer figure legend:Fig. 6A|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/05 rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 - - false binding-associated region:?-?|glutathione s tranferase tag:n-n - - - psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) chebi:"CHEBI:78408" uniprotkb:P51151 intact:EBI-11175273|chebi:"CHEBI:42862" intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 psi-mi:guanosine 5'-[beta,gamma-imido]triphosphate(display_short)|psi-mi:"CHEBI:78408"(display_long)|intact:5'-Guanylic acid, monoanhydride with imidodiphosphoric acid(synonym)|intact:5'-guanylylimidodiphosphate(synonym)|intact:GMP-PNP(synonym)|intact:GMP-Pnp(synonym)|intact:"Gpp(NH)-p"(synonym)|intact:"Gpp(NH)p"(synonym)|intact:Guanylyl imidodiphosphate(synonym)|intact:"5'-O-(hydroxy{[hydroxy(phosphonoamino)phosphoryl]oxy}phosphoryl)guanosine"(iupac name) psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:-2(chemical synthesis)|taxid:-2("Chemical synthesis (Chemical synthesis)") taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22273657|imex:IM-27539-17 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0682"(cofactor) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0496"(bait) psi-mi:"MI:0328"(small molecule) psi-mi:"MI:0326"(protein) - refseq:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 - - - figure legend:Fig. 4C|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/05 - rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 - false binding-associated region:?-? binding-associated region:?-?|glutathione s tranferase tag:n-n - - psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) uniprotkb:P51151 reactome:R-HSA-8877746 intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 intact:EBI-22228063 psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:bloc3_human(display_short)|psi-mi:R-HSA-8877746(display_long)|intact:BLOC-3 complex(complex recommended name)|intact:"HPS1:HPS4"(complex systematic name)|intact:Biogenesis of Lysosome-related Organelles Complex-3(complex synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22273657|imex:IM-27539-17 - 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:1302"(stable complex) refseq:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 go:"GO:0060155"(platelet dense granule organization)|pubmed:23247405(see-also)|pubmed:23174301(see-also)|intact:EBI-704408(exp-evidence)|complex portal:CPX-5043(complex-primary)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0005737"(cytoplasm)|efo:"Orphanet:79430"(see-also)|pubmed:23726022(see-also)|go:"GO:0046907"(intracellular transport)|pubmed:20048159(see-also)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|pubmed:30387913(see-also)|go:"GO:1903232"(melanosome assembly)|evidence ontology:"ECO:0000353" - - curated-complex:"A guanine exchange factor (GEF) complex required for the biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. Acts as GEF for RAB32 (Q13637) and RAB38 (P57729), promoting the exchange of GDP to GTP, converting them into an active GTP-bound form and inducing their recruitment to membrane. Once active, both interact with the AP-1 (CPX-5047, CPX-5048 and CPX-5049), the AP-3 (CPX-5051 and CPX-5052) and the BLOC-2 (CPX-5044) adapter complexes, to regulate cargo delivery to nascent melanosomes and platelet dense granules. Mutations in HPS1 are the most frequent cause of Hermansky-Pudlak syndrome."|complex-properties:"HPS1 and HPS4 interact directly to form a 1:1 heterodimer with an asymmetric shape. MW: 140- 175 kDa The Leu668Pro HPS1 mutant appears to be functionally incapable of assembling with HPS4 in the BLOC-3 protein complex."|disease:"Hermansky-Pudlak syndrome [Orphanet:79430]: Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity."|assembly:Heterodimer figure legend:Fig. 4C|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/05 rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 - - false binding-associated region:?-?|glutathione s tranferase tag:n-n - - - psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) psi-mi:"MI:0818"(molecular weight estimation by coomasie staining) chebi:"CHEBI:15996" uniprotkb:P51151 intact:EBI-989053|chebi:"CHEBI:42934"|chebi:"CHEBI:5234"|chebi:"CHEBI:13342"|chebi:"CHEBI:24451" intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 psi-mi:gtp(display_short)|psi-mi:"CHEBI:15996"(display_long)|intact:5'-GTP(synonym)|intact:GTP(synonym)|intact:Guanosine 5'-triphosphate(synonym)|intact:guanosine 5'-triphosphoric acid(synonym)|intact:guanosine triphosphate(synonym)|intact:GUANOSINE-5'-TRIPHOSPHATE(synonym)|intact:H4gtp(synonym)|intact:"guanosine 5'-(tetrahydrogen triphosphate)"(iupac name) psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:-2(chemical synthesis)|taxid:-2("Chemical synthesis (Chemical synthesis)") taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-22235818|imex:IM-27539-11 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0682"(cofactor) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0328"(small molecule) psi-mi:"MI:0326"(protein) - refseq:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 - author-identifiers:"InChI=1/C10H16N5O14P3/c11-10-13-7-4(8(18)14-10)12-2-15(7)9-6(17)5(16)3(27-9)1-26-31(22,23)29-32(24,25)28-30(19,20)21/h2-3,5-6,9,16-17H,1H2,(H,22,23)(H,24,25)(H2,19,20,21)(H3,11,13,14,18)/t3-,5-,6-,9-/m1/s1/f/h14,19-20,22,24H,11H2" - figure legend:Fig. 4D|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/05 - rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 - false sufficient binding region:?-? sufficient binding region:?-?|glutathione s tranferase tag:n-n - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:P51151 uniprotkb:Q92902 intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 intact:EBI-704347|uniprotkb:A8MRT2|uniprotkb:O15402|uniprotkb:O15502|uniprotkb:Q5TAA3|uniprotkb:Q8WXE5|ensembl:ENSP00000326649|ensembl:ENSP00000355310 psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:hps1_human(display_long)|uniprotkb:HPS1(gene name)|psi-mi:HPS1(display_short)|uniprotkb:HPS(gene name synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-22235818|imex:IM-27539-11 - 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:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 refseq:NP_000186.2|refseq:NP_872577.1|refseq:XP_005269814.1|refseq:NP_001309405.1|refseq:NP_001309406.1|refseq:NP_001309407.1|refseq:NP_001309408.1|ensembl:ENSG00000107521(gene)|ensembl:ENST00000325103(transcript)|ensembl:ENST00000361490(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005829"(cytosol)|go:"GO:0007040"(lysosome organization)|go:"GO:0007601"(visual perception)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0050896"(response to stimulus)|go:"GO:1903232"(melanosome assembly)|interpro:IPR026053|interpro:IPR043970|interpro:IPR043971|interpro:IPR043972|reactome:R-HSA-8876198 - - - figure legend:Fig. 4D|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/05 rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 rogid:Gxa0wiFS4pOWy9dRTgcXNm5BiQI9606 - false sufficient binding region:?-?|glutathione s tranferase tag:n-n ha tag:n-n - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:P51151 uniprotkb:Q9NQG7 intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 intact:EBI-704377|uniprotkb:Q5H8V6|uniprotkb:Q96LX6|uniprotkb:Q9BY93|uniprotkb:Q9UH37|uniprotkb:Q9UH38|uniprotkb:B1AHQ4|ensembl:ENSP00000338457|ensembl:ENSP00000381213 psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:hps4_human(display_long)|uniprotkb:Light-ear protein homolog(gene name synonym)|uniprotkb:HPS4(gene name)|psi-mi:HPS4(display_short)|uniprotkb:KIAA1667(gene name synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0914"(association) psi-mi:"MI:0469"(IntAct) intact:EBI-22235818|imex:IM-27539-11 - 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:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 refseq:NP_071364.4|refseq:NP_690054.1|refseq:XP_016884531.1|refseq:XP_016884532.1|refseq:XP_016884533.1|ensembl:ENSP00000338457|ensembl:ENSP00000381213|ensembl:ENST00000402105|ensembl:ENSP00000384185|ensembl:ENSG00000100099(gene)|ensembl:ENST00000336873(transcript)|ensembl:ENST00000398145(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005829"(cytosol)|go:"GO:0006605"(protein targeting)|go:"GO:0007040"(lysosome organization)|go:"GO:0007596"(blood coagulation)|go:"GO:0007599"(hemostasis)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0030318"(melanocyte differentiation)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0042470"(melanosome)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042827"(platelet dense granule)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0048075"(positive regulation of eye pigmentation)|go:"GO:0050821"(protein stabilization)|go:"GO:1903232"(melanosome assembly)|go:"GO:1903955"(positive regulation of protein targeting to mitochondrion)|interpro:IPR026091|interpro:IPR043987|interpro:IPR043989|reactome:R-HSA-8876198 - - - figure legend:Fig. 4D|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/05 rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 rogid:VE5iGhD6vzr9dPNHgiAeK2G05Ik9606 - false sufficient binding region:?-?|glutathione s tranferase tag:n-n myc tag:n-n - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:P51151 uniprotkb:Q99KG7 intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 intact:EBI-22273738|ensembl:ENSMUSP00000047920|ensembl:ENSMUSP00000107978 psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:hps4_mouse(display_long)|uniprotkb:Light-ear protein(gene name synonym)|uniprotkb:Hps4(gene name)|psi-mi:Hps4(display_short)|uniprotkb:Le(gene name synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:10090(mouse)|taxid:10090(Mus musculus) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-22273726|imex:IM-27539-19 - 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:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 refseq:NP_619587.3|refseq:XP_006534893.1|refseq:XP_006534894.1|refseq:XP_006534895.1|ensembl:ENSMUSG00000042328(gene)|ensembl:ENSMUST00000035279(transcript)|ensembl:ENSMUST00000112359(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005764"(lysosome)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0006605"(protein targeting)|interpro:IPR026091|go:"GO:0006996"(organelle organization)|interpro:IPR043987|interpro:IPR043989|go:"GO:0007040"(lysosome organization)|reactome:R-MMU-8876198|go:"GO:0007596"(blood coagulation)|go:"GO:0016020"(membrane)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0030318"(melanocyte differentiation)|go:"GO:0031085"(BLOC-3 complex)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0042470"(melanosome)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042827"(platelet dense granule)|go:"GO:0046983"(protein dimerization activity)|go:"GO:0050821"(protein stabilization)|go:"GO:1903232"(melanosome assembly) - - - figure legend:Fig. 6B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/05 rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 rogid:pgvggDDVFY2RBwnxxJ39sq5sMGU10090 - false binding-associated region:?-?|glutathione s tranferase tag:n-n - - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) chebi:"CHEBI:15996" uniprotkb:P51151 intact:EBI-989053|chebi:"CHEBI:42934"|chebi:"CHEBI:5234"|chebi:"CHEBI:13342"|chebi:"CHEBI:24451" intact:EBI-4401353|uniprotkb:Q6ICN1|uniprotkb:A8K390|ensembl:ENSP00000420127|ensembl:ENSP00000480777 psi-mi:gtp(display_short)|psi-mi:"CHEBI:15996"(display_long)|intact:5'-GTP(synonym)|intact:GTP(synonym)|intact:Guanosine 5'-triphosphate(synonym)|intact:guanosine 5'-triphosphoric acid(synonym)|intact:guanosine triphosphate(synonym)|intact:GUANOSINE-5'-TRIPHOSPHATE(synonym)|intact:H4gtp(synonym)|intact:"guanosine 5'-(tetrahydrogen triphosphate)"(iupac name) psi-mi:rab9a_human(display_long)|uniprotkb:RAB9A(gene name)|psi-mi:RAB9A(display_short)|uniprotkb:RAB9(gene name synonym) psi-mi:"MI:0096"(pull down) Kloer et al. (2010) pubmed:20048159|imex:IM-27539 taxid:-2(chemical synthesis)|taxid:-2("Chemical synthesis (Chemical synthesis)") taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-22273726|imex:IM-27539-19 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0682"(cofactor) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0328"(small molecule) psi-mi:"MI:0326"(protein) - refseq:XP_016885453.1|refseq:NP_001182257.1|refseq:NP_004242.1|dip:DIP-46409N|ensembl:ENSG00000123595(gene)|ensembl:ENST00000464506(transcript)|ensembl:ENST00000618931(transcript)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005764"(lysosome)|go:"GO:0005770"(late endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015031"(protein transport)|go:"GO:0019003"(GDP binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0030670"(phagocytic vesicle membrane)|go:"GO:0032482"(Rab protein signal transduction)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0042147"(retrograde transport, endosome to Golgi)|go:"GO:0042470"(melanosome)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045921"(positive regulation of exocytosis)|go:"GO:0052405"|go:"GO:0070062"(extracellular exosome)|interpro:IPR001806(Ras GTPase)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR027417|interpro:IPR041824|mint:P51151|rcsb pdb:1WMS|reactome:R-HSA-6811440|reactome:R-HSA-8873719|reactome:R-HSA-8876198|reactome:R-HSA-9706019 - author-identifiers:"InChI=1/C10H16N5O14P3/c11-10-13-7-4(8(18)14-10)12-2-15(7)9-6(17)5(16)3(27-9)1-26-31(22,23)29-32(24,25)28-30(19,20)21/h2-3,5-6,9,16-17H,1H2,(H,22,23)(H,24,25)(H2,19,20,21)(H3,11,13,14,18)/t3-,5-,6-,9-/m1/s1/f/h14,19-20,22,24H,11H2" - figure legend:Fig. 6B|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/12/02 2019/12/05 - rogid:x0BjgzGEj7mPNlt2CQLkHtqQzDQ9606 - false sufficient binding region:?-? binding-associated region:?-?|glutathione s tranferase tag:n-n - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot)