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VPS13A
Identifiers
Aliases	VPS13A, CHAC, CHOREIN, vacuolar protein sorting 13 homolog A
External IDs	OMIM: 605978; MGI: 2444304; HomoloGene: 22068; GeneCards: VPS13A; OMA:VPS13A - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9q21.2 Start 77,177,445 bp End 77,421,537 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19|19 A- B Start 16,592,730 bp End 16,758,297 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa biceps brachii Skeletal muscle tissue of biceps brachii Achilles tendon testicle left coronary artery Brodmann area 23 hair follicle gastric mucosa rectum Top expressed in spermatocyte secondary oocyte spermatid zygote renal corpuscle medullary collecting duct primary oocyte dentate gyrus of hippocampal formation granule cell lumbar spinal ganglion lumbar subsegment of spinal cord More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component dense core granule cytosol intracellular anatomical structure extrinsic component of membrane Biological process Golgi to endosome transport protein transport social behavior protein localization locomotory behavior nervous system development autophagy protein targeting to vacuole protein retention in Golgi apparatus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23230 271564 Ensembl ENSG00000197969 ENSMUSG00000046230 UniProt Q96RL7 Q5H8C4 RefSeq (mRNA) NM_001018037 NM_001018038 NM_015186 NM_033305 NM_173028 RefSeq (protein) NP_001018047 NP_001018048 NP_056001 NP_150648 NP_766616 Location (UCSC) Chr 9: 77.18 – 77.42 Mb Chr 19: 16.59 – 16.76 Mb PubMed search
Wikidata
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VPS13A (Vacuolar protein sorting-associated protein 13A) is a protein that in humans is encoded by the VPS13A gene.

Function

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea acanthocytosis. Alternative splicing of this gene results in multiple transcript variants.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000197969 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000046230 – 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. Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP (Oct 1997). "Chorea-acanthocytosis: genetic linkage to chromosome 9q21". American Journal of Human Genetics. 61 (4): 899–908. doi:10.1086/514876. PMC 1715977. PMID 9382101.
6. Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP (Jun 2001). "A conserved sorting-associated protein is mutant in chorea-acanthocytosis". Nature Genetics. 28 (2): 119–20. doi:10.1038/88821. PMID 11381253. S2CID 2754015.
7. ^ "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)".

Further reading

• Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Feb 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032.
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (Mar 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
• Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A (Jun 2001). "The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis". Nature Genetics. 28 (2): 121–2. doi:10.1038/88825. PMID 11381254. S2CID 29708129.
• Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP (Apr 2003). "Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula". Movement Disorders. 18 (4): 403–7. doi:10.1002/mds.10361. PMID 12671946. S2CID 34308711.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (Jun 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
• Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP (Sep 2004). "Analysis of the human VPS13 gene family". Genomics. 84 (3): 536–49. doi:10.1016/j.ygeno.2004.04.012. PMID 15498460.
• Dobson-Stone C, Velayos-Baeza A, Jansen A, Andermann F, Dubeau F, Robert F, Summers A, Lang AE, Chouinard S, Danek A, Andermann E, Monaco AP (Sep 2005). "Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis". Neurogenetics. 6 (3): 151–8. doi:10.1007/s10048-005-0220-9. PMID 15918062. S2CID 10875246.

External links

• GeneReviews/NCBI/NIH/UW entry on Chorea-acanthocytosis

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