ABCA13

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.[5] 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.[6]

ABCA13
Identifiers
AliasesABCA13, ATP-binding cassette, sub-family A (ABC1), member 13, ATP binding cassette subfamily A member 13
External IDsOMIM: 607807 MGI: 2388707 HomoloGene: 27991 GeneCards: ABCA13
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7p12.3Start48,171,458 bp[1]
End48,647,497 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 11: 9.19 – 9.68 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

References
  1. GRCh38: Ensembl release 89: ENSG00000179869 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000004668 - 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. 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". Cytogenetic and Genome Research. 98 (2–3): 160–8. doi:10.1159/000069852. PMID 12697998.
  6. Vasiliou V, Vasiliou K, Nebert DW (April 2009). "Human ATP-binding cassette (ABC) transporter family". Human Genomics. 3 (3): 281–90. doi:10.1186/1479-7364-3-3-281. PMC 2752038. PMID 19403462.
  7. 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 DH (December 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): 833–46. doi:10.1016/j.ajhg.2009.11.003. PMC 2790560. PMID 19944402. Lay summary – BBC News.

Further reading
  • 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 (March 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, Hendriks J, Buitelaar J, Franke B, de Jonge MV, Bolton P, Collier D, Curran S, van Engeland H, van Ree JM (April 2009). "A common variant in DRD3 receptor is associated with autism spectrum disorder". Biological Psychiatry. 65 (7): 625–30. doi:10.1016/j.biopsych.2008.09.035. PMID 19058789.
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