ABCA13

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; OMA:ABCA13 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	48,647,497 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	9,634,259 bp
RNA expression pattern
	Top expressed in
	bronchial epithelial cell; ; epithelium of nasopharynx; ; olfactory zone of nasal mucosa; ; mucosa of paranasal sinus; ; nasal epithelium; ; bone marrow cell; ; testicle; ; trabecular bone; ; trachea; ; gonad;
	Top expressed in
	olfactory epithelium; ; otolith organ; ; utricle; ; human kidney; ; granulocyte; ; epithelium of small intestine; ; zygote; ; secondary oocyte; ; epithelium of lens; ; primary oocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; ATPase activity; ATP binding; ATPase-coupled transmembrane transporter activity; lipid transporter activity;
Cellular component	integral component of membrane; intracellular membrane-bounded organelle; membrane; plasma membrane; secretory granule membrane; azurophil granule membrane;
Biological process	transmembrane transport; neutrophil degranulation; lipid transport;
	Sources:Amigo / QuickGO
Orthologs
	154664
	268379
	ENSG00000179869
	ENSMUSG00000004668
	Q86UQ4
	Q5SSE9
	NM_152701; NM_152555
	NM_178259
	NP_689914
	NP_839990
	Wikidata
View/Edit Human	View/Edit Mouse

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]

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 2 3 GRCh38: Ensembl release 89: ENSG00000179869 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000004668 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
↑
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 in: "'Mental illness gene' discovered by Scots scientists". BBC News. 2009-11-26.

External links

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

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000179869 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12697998-5] 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.

[pmid19403462-6] 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.

[Knight_2009-7] 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 in: "'Mental illness gene' discovered by Scots scientists". BBC News. 2009-11-26.

[mwqQ] Lay summary in: "'Mental illness gene' discovered by Scots scientists". BBC News. 2009-11-26.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

v t e Membrane proteins, carrier proteins: membrane transport proteins ABC transporter (TC 3A1)
A	A1 A2 A3 A4 A7 A8 A12 A13
B	B1 B2-3 (B2 B3) B4 B5 B6 B7 B9 B11
C	C1 C2 C3 C4 C5 C6 C7 C8-9 (C8, C9) C10 C11 C13
D	D1 D2 D3 D4
E	E1
F	F1 F2
G	G1 G2 G4 Sterolin (G5, G8)
see also ABC transporter disorders

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ABCA13

Clinical significance

References

Further reading

External links