Entity Details

Primary name HPS4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NQG7
EntryNameHPS4_HUMAN
FullNameHermansky-Pudlak syndrome 4 protein
TaxID9606
Evidenceevidence at protein level
Length708
SequenceStatuscomplete
DateCreated2002-06-06
DateModified2021-06-02

Ontological Relatives

GenesHPS4

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

Subcellular Location

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Domains

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DomainNameCategoryType
IPR026091 Hermansky-Pudlak syndrome 4 proteinFamilyFamily
IPR043987 CCZ1/INTU/HSP4, first Longin domainDomainDomain
IPR043989 CCZ1/INTU/HPS4, third Longin domainDomainDomain

Diseases

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