VIPAS39

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.

Protein-coding gene in the species Homo sapiens

VIPAS39
Identifiers
Aliases	VIPAS39, C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39, VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
External IDs	OMIM: 613401; MGI: 2144805; HomoloGene: 41464; GeneCards: VIPAS39; OMA:VIPAS39 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q24.3 Start 77,426,675 bp[1] End 77,457,952 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 D2 Start 87,285,642 bp[2] End 87,313,030 bp[2]
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 12: 87.29 – 87.31 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

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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

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• Human VIPAS39 genome location and VIPAS39 gene details page in the UCSC Genome Browser.

Further reading

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• 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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