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 significanceEdit

One study suggests that rare variations and mutations of the gene may be linked to psychiatric disorders such as schizophrenia, bipolar disorder, and depression.

• This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.