VIPAS39
Sign in to saveAlso known as C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39, VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
Spermatogenesis-defective protein 39 homolog is a protein that in humans is encoded by the VIPAS39 gene. This protein is involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.
Gene data
VIPAS39- Name
- VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
- Type
- protein-coding
- Position
- 77,426,675–77,457,952 (−)
- Aliases
- C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39
- Ensembl
- ENSG00000151445
- RefSeq RNA
- NM_001193314.2, NM_001193315.2, NM_001193316.2, NM_001193317.2, NM_001400324.1
- RefSeq protein
- NP_001180243.1, NP_001180244.1, NP_001180245.1, NP_001180246.1, NP_001387253.1
This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
- Symbol
- VIPAS39
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 14:77,426,674-77,457,952
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 41464
- genomic start
- 77893018
- exact match
- identifiers.org/ncbigene/63894
- genomic end
- 77924295
- cytogenetic location
- 14q24.3
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- References
- External links
- Further reading
Spermatogenesis-defective protein 39 homolog is a protein that in humans is encoded by the VIPAS39 gene. This protein is involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.
==References==