Entity Details

Primary name SPE39_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H9C1
EntryNameSPE39_HUMAN
FullNameSpermatogenesis-defective protein 39 homolog
TaxID9606
Evidenceevidence at protein level
Length493
SequenceStatuscomplete
DateCreated2004-01-16
DateModified2021-06-02

Ontological Relatives

GenesVIPAS39

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005794 Golgi apparatus
GO:0006886 intracellular protein transport
GO:0007034 vacuolar transport
GO:0007283 spermatogenesis
GO:0008333 endosome to lysosome transport
GO:0017185 peptidyl-lysine hydroxylation
GO:0030154 cell differentiation
GO:0032963 collagen metabolic process
GO:0044877 protein-containing complex binding
GO:0055037 recycling endosome

Subcellular Location

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Subcellular Location
Cytoplasm
Cytoplasmic vesicle
Early endosome
Late endosome
Recycling endosome

Domains

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DomainNameCategoryType
IPR006925 Vps16, C-terminalDomainDomain
IPR038132 Vps16, C-terminal domain superfamilyFamilyHomologous superfamily
IPR040057 Spermatogenesis-defective protein 39FamilyFamily

Diseases

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Disease IDSourceNameDescription
613404 OMIMArthrogryposis, renal dysfunction and cholestasis syndrome 2 (ARCS2)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. In liver, CEACAM5 and ABCB11 are mislocalized and E-cadherin expression is decreased.