VPS13A
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| Vacuolar protein sorting 13 homolog A (S. cerevisiae) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | VPS13A; CHAC; CHOREIN; FLJ42030; KIAA0986 | ||||||||||||
| External IDs | OMIM: 605978 MGI: 2444304 HomoloGene: 22068 GeneCards: VPS13A Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 23230 | 271564 | |||||||||||
| Ensembl | ENSG00000197969 | ENSMUSG00000046230 | |||||||||||
| UniProt | Q96RL7 | Q6P6M9 | |||||||||||
| RefSeq (mRNA) | NM_001018037.1 | NM_173028.3 | |||||||||||
| RefSeq (protein) | NP_001018047.1 | NP_766616.2 | |||||||||||
| Location (UCSC) | Chr 9: 79.79 – 80.04 Mb |
Chr 19: 16.69 – 16.86 Mb |
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| PubMed search | [1] | [2] | |||||||||||
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]
[edit] 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1715977.
- ^ 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.
- ^ a b "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23230.
[edit] 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=16267.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2734081.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- 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.
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