VPS13A
| Vacuolar protein sorting 13 homolog A (S. cerevisiae) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | VPS13A ; CHAC; CHOREIN | ||||||||||||
| External IDs | OMIM: 605978 MGI: 2444304 HomoloGene: 22068 GeneCards: VPS13A Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 23230 | 271564 | |||||||||||
| Ensembl | ENSG00000197969 | ENSMUSG00000046230 | |||||||||||
| UniProt | Q96RL7 | Q5H8C4 | |||||||||||
| RefSeq (mRNA) | NM_001018037 | NM_173028 | |||||||||||
| RefSeq (protein) | NP_001018047 | NP_766616 | |||||||||||
| Location (UCSC) | Chr 9: 79.79 – 80.04 Mb | Chr 19: 16.62 – 16.78 Mb | |||||||||||
| PubMed search | |||||||||||||
Vacuolar protein sorting-associated protein 13A is a protein that in humans is encoded by the VPS13A gene.[1][2][3]
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.[3]
References
- ↑ 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, Nemeth AH, Farrall M, Monaco AP (Nov 1997). "Chorea-acanthocytosis: genetic linkage to chromosome 9q21". Am J Hum Genet 61 (4): 899–908. doi:10.1086/514876. PMC 1715977. PMID 9382101.
- ↑ 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, Carre S, Alonso E, Manfredi M, Nemeth AH, Monaco AP (May 2001). "A conserved sorting-associated protein is mutant in chorea-acanthocytosis". Nat Genet 28 (2): 119–20. doi:10.1038/88821. PMID 11381253.
- ↑ 3.0 3.1 "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)".
Further reading
- Nagase T, Ishikawa K, Suyama M et al. (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 Res. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032.
- Dias Neto E, Correa RG, Verjovski-Almeida S et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
- Ueno S, Maruki Y, Nakamura M et al. (2001). "The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.". Nat. Genet. 28 (2): 121–2. doi:10.1038/88825. PMID 11381254.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Bohlega S, Al-Jishi A, Dobson-Stone C et al. (2003). "Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.". Mov. Disord. 18 (4): 403–7. doi:10.1002/mds.10361. PMID 12671946.
- 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.
- Brandenberger R, Wei H, Zhang S et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
- Humphray SJ, Oliver K, Hunt AR et al. (2004). "DNA sequence and analysis of human chromosome 9.". Nature 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
- 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.
- Velayos-Baeza A, Vettori A, Copley RR et al. (2005). "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 et al. (2006). "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.