InnateDB Protein
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IDBP-587888.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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VIPAS39
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Protein Name
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chromosome 14 open reading frame 133
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000452181
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InnateDB Gene
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IDBG-13870 (VIPAS39)
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Protein Structure
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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}.
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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}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
21
[view]
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Protein-Protein |
20
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR019177
Golgin subfamily A member 5
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PFAM |
PF09787
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H9C1
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PhosphoSite |
PhosphoSite-Q9H9C1
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TrEMBL |
Q6IA61
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UniProt Splice Variant |
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Entrez Gene |
63894
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UniGene |
Hs.16157
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RefSeq |
NP_071350
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HUGO |
HGNC:20347
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OMIM |
613401
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CCDS |
CCDS9862
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HPRD |
10710
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IMGT |
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EMBL |
AF111168
AK022769
AK022925
AK024661
AK098254
AK298354
BC015054
CH471061
CR457294
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GenPept |
AAD09624
AAH15054
BAB14237
BAB14310
BAB14951
BAG53601
BAG60598
CAG33575
EAW81286
EAW81288
EAW81289
EAW81290
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