ABCA13
| ATP-binding cassette, sub-family A (ABC1), member 13 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | ABCA13 ; DKFZp313D2411; FLJ16398; FLJ33876; FLJ33951 | ||||||||||||
| External IDs | OMIM: 607807 MGI: 2388707 HomoloGene: 27991 IUPHAR: 767 GeneCards: ABCA13 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 154664 | 268379 | |||||||||||
| Ensembl | ENSG00000179869 | ENSMUSG00000004668 | |||||||||||
| UniProt | Q86UQ4 | Q5SSE9 | |||||||||||
| RefSeq (mRNA) | NM_152701 | NM_178259 | |||||||||||
| RefSeq (protein) | NP_689914 | NP_839990 | |||||||||||
| Location (UCSC) |
Chr 7: 48.17 – 48.65 Mb |
Chr 11: 9.19 – 9.68 Mb | |||||||||||
| PubMed search | |||||||||||||
ATP-binding cassette sub-family A member 13 also known as ABCA13 is a protein that in humans is encoded by the ABCA13 gene on chromosome 7.[1] It belongs to the wide ATP-binding cassette family of proteins. The protein contains 5058 residues, and is currently the largest known protein of the ABC family.[2]
Clinical significance
One study suggests that rare variations and mutations of the gene may be linked to psychiatric disorders such as schizophrenia, bipolar disorder, and depression.[3]
References
- ↑ Prades C, Arnould I, Annilo T, Shulenin S, Chen ZQ, Orosco L, Triunfol M, Devaud C, Maintoux-Larois C, Lafargue C, Lemoine C, Denèfle P, Rosier M, Dean M (2002). "The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon". Cytogenet. Genome Res. 98 (2–3): 160–8. doi:10.1159/000069852. PMID 12697998.
- ↑ Vasiliou V, Vasiliou K, Nebert DW (April 2009). "Human ATP-binding cassette (ABC) transporter family". Hum. Genomics 3 (3): 281–90. doi:10.1186/1479-7364-3-3-281. PMC 2752038. PMID 19403462.
- ↑ Knight HM, Pickard BS, Maclean A, Malloy MP, Soares DC, McRae AF, Condie A, White A, Hawkins W, McGhee K, van Beck M, MacIntyre DJ, Starr JM, Deary IJ, Visscher PM, Porteous DJ, Cannon RE, St Clair D, Muir WJ, Blackwood DHR (2009). "A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression". American Journal of Human Genetics 85 (6): 833. doi:10.1016/j.ajhg.2009.11.003. Lay summary – BBC News.
Further reading
- Strausberg RL, Feingold EA, Grouse LH; et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Dias Neto E, Correa RG, Verjovski-Almeida S; et al. (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. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
- de Krom M, Staal WG, Ophoff RA; et al. (2009). "A common variant in DRD3 receptor is associated with autism spectrum disorder". Biol. Psychiatry 65 (7): 625–30. doi:10.1016/j.biopsych.2008.09.035. PMID 19058789.
- 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.
External links
- ABCA13 human gene location in the UCSC Genome Browser.
- ABCA13 human gene details in the UCSC Genome Browser.
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