Entity Details

Primary name VP33B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H267
EntryNameVP33B_HUMAN
FullNameVacuolar protein sorting-associated protein 33B
TaxID9606
Evidenceevidence at protein level
Length617
SequenceStatuscomplete
DateCreated2002-09-19
DateModified2021-06-02

Ontological Relatives

GenesVPS33B

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005770 late endosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0006886 intracellular protein transport
GO:0007032 endosome organization
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0017185 peptidyl-lysine hydroxylation
GO:0030136 clathrin-coated vesicle
GO:0030897 HOPS complex
GO:0031091 platelet alpha granule
GO:0031901 early endosome membrane
GO:0031902 late endosome membrane
GO:0032400 melanosome localization
GO:0032418 lysosome localization
GO:0032963 collagen metabolic process
GO:0033263 CORVET complex
GO:0044877 protein-containing complex binding
GO:0048471 perinuclear region of cytoplasm
GO:0055037 recycling endosome
GO:0061025 membrane fusion
GO:0070889 platelet alpha granule organization

Subcellular Location

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Subcellular Location
Cytoplasmic vesicle
Early endosome
Late endosome membrane
Lysosome membrane
Recycling endosome

Domains

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DomainNameCategoryType
IPR001619 Sec1-like proteinFamilyFamily
IPR027121 Vacuolar protein sorting-associated protein 33FamilyFamily
IPR027482 Sec1-like, domain 2FamilyHomologous superfamily
IPR036045 Sec1-like superfamilyFamilyHomologous superfamily
IPR043127 Sec1-like, domain 3aFamilyHomologous superfamily
IPR043154 Sec1-like, domain 1FamilyHomologous superfamily
IPR043155 Vacuolar protein sorting-associated protein 33, domain 3bFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
208085 OMIMArthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1)A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. The disease is caused by variants affecting the gene represented in this entry.