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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. [5]

VIPAS39
Identifiers
AliasesVIPAS39, C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39, VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
External IDsOMIM: 613401 MGI: 2144805 HomoloGene: 41464 GeneCards: VIPAS39
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for VIPAS39
Genomic location for VIPAS39
Band14q24.3Start77,426,675 bp[1]
End77,457,952 bp[1]
RNA expression pattern
PBB GE C14orf133 218431 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001193314
NM_001193315
NM_001193316
NM_001193317
NM_022067

NM_001142580
NM_001142581
NM_134044

RefSeq (protein)

NP_001180243
NP_001180244
NP_001180245
NP_001180246
NP_071350

NP_001136052
NP_001136053
NP_598805

Location (UCSC)Chr 14: 77.43 – 77.46 MbChr 12: 87.24 – 87.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse


ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000151445 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021038 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog".

External linksEdit

Further readingEdit