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
Aliases	ABCA13, ATP-binding cassette, sub-family A (ABC1), member 13, ATP binding cassette subfamily A member 13
External IDs	OMIM: 607807 MGI: 2388707 HomoloGene: 27991 GeneCards: ABCA13
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p12.3 Start 48,171,458 bp[1] End 48,647,497 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 A1 Start 9,191,942 bp[2] End 9,684,259 bp[2]
Gene ontology Molecular function • nucleotide binding • ATPase activity • ATP binding • ATPase activity, coupled to transmembrane movement of substances • lipid transporter activity Cellular component • integral component of membrane • intracellular membrane-bounded organelle • membrane • cell membrane • secretory granule membrane • azurophil granule membrane Biological process • transmembrane transport • neutrophil degranulation • lipid transport Sources:Amigo / QuickGO
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	[3]	[4]
Wikidata
View/Edit Human View/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. S2CID 34262689.
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. S2CID 11545813.

External links

• ABCA13 human gene location in the UCSC Genome Browser.
• ABCA13 human gene details in the UCSC Genome Browser.