Entity Details

Primary name HPS4
Entity type gene
Source Source Link

Details

PrimaryID89781
RefseqGeneNG_009763
SymbolHPS4
NameHPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Chromosome22
Location22q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-06-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHPS4_HUMAN

GO terms

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GOName
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0006605 protein targeting
GO:0007040 lysosome organization
GO:0007596 blood coagulation
GO:0007599 hemostasis
GO:0016020 membrane
GO:0016192 vesicle-mediated transport
GO:0030318 melanocyte differentiation
GO:0031085 BLOC-3 complex
GO:0031267 small GTPase binding
GO:0031410 cytoplasmic vesicle
GO:0042470 melanosome
GO:0042803 protein homodimerization activity
GO:0042827 platelet dense granule
GO:0046983 protein dimerization activity
GO:0048075 positive regulation of eye pigmentation
GO:0050821 protein stabilization
GO:1903232 melanosome assembly
GO:1903955 positive regulation of protein targeting to mitochondrion

Diseases

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Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
HPS4HPS1HPRD, IntAct12756248 20048159 details
HPS4RAC1BioGRID, IntAct20936779 details
HPS4HPS4IntAct20048159 details
HPS4RAB9AIntAct20048159 details
HPS4RAB9BIntAct20048159 details
HPS4DISC1IntAct31413325 details