VIPAS39

Protein-coding gene in the species Homo sapiens
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; OMA:VIPAS39 - orthologs
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]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for VIPAS39
Genomic location for VIPAS39
Band12|12 D2Start87,285,642 bp[2]
End87,313,030 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • gonad

  • tendon of biceps brachii

  • gastric mucosa

  • testicle

  • Achilles tendon

  • popliteal artery

  • tibial arteries

  • stromal cell of endometrium

  • Descending thoracic aorta
Top expressed in
  • saccule

  • otic vesicle

  • otic placode

  • granulocyte

  • spermatocyte

  • ventricular zone

  • ganglionic eminence

  • medial ganglionic eminence

  • right kidney

  • neural layer of retina
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein binding
  • protein-containing complex binding
Cellular component
  • HOPS complex
  • endosome
  • cytoplasmic vesicle
  • early endosome
  • cytoplasm
  • late endosome
  • recycling endosome
  • Golgi apparatus
Biological process
  • protein transport
  • cell differentiation
  • autophagosome maturation
  • regulation of transcription, DNA-templated
  • transcription, DNA-templated
  • spermatogenesis
  • endosome to lysosome transport
  • intracellular protein transport
  • collagen fibril organization
  • post-translational protein modification
  • peptidyl-lysine hydroxylation
  • collagen metabolic process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

63894

104799

Ensembl

ENSG00000151445

ENSMUSG00000021038

UniProt

Q9H9C1

Q8BGQ1

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: 87.29 – 87.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]


References

  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 links

Further reading

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Heilig R, Eckenberg R, Petit JL, et al. (2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601–7. Bibcode:2003Natur.421..601H. doi:10.1038/nature01348. PMID 12508121.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Ballif BA, Villén J, Beausoleil SA, et al. (2005). "Phosphoproteomic analysis of the developing mouse brain". Mol. Cell. Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID 15592455. S2CID 7200157.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.


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