InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: VIPAS39

Summary

InnateDB Protein

IDBP-374873.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

VIPAS39

Protein Name

chromosome 14 open reading frame 133

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000404815

InnateDB Gene

IDBG-13870 (VIPAS39)

Protein Structure

UniProt Annotation

Function

May play a role in vesicular trafficking during spermatogenesis (By similarity). Plays a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes. May play a role in epithelial polarization through stabilization of apical membrane protein content, possibly via the RAB11A-dependent apical recycling pathway. Also involved in direct or indirect transcriptional regulation of E-cadherin. {ECO:0000250, ECO:0000269PubMed:19109425, ECO:0000269PubMed:20190753}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Early endosome. Recycling endosome. Late endosome. Note=Colocalizes in clusters with VPS33B at cytoplasmic organelles. {ECO:0000250}.

Disease Associations

Arthrogryposis, renal dysfunction and cholestasis syndrome 2 (ARCS2) [MIM:613404]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. In liver, CEACAM5 and ABCB11 are mislocalized and E-cadherin expression is decreased.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.

Experimentally validated
Total	21 [view]
Protein-Protein	20 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006886	intracellular protein transport
GO:0007283	spermatogenesis
GO:0008333	endosome to lysosome transport
GO:0030154	cell differentiation

Cellular Component

GO:0005737	cytoplasm
GO:0005769	early endosome
GO:0005770	late endosome
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0030897	HOPS complex
GO:0055037	recycling endosome