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; OMA:ABCA13 - orthologs
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 9,141,942 bp[2] End 9,634,259 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 154664 268379 Ensembl ENSG00000179869 ENSMUSG00000004668 UniProt Q86UQ4 Q5SSE9 RefSeq (mRNA) NM_152701 NM_152555 NM_178259 RefSeq (protein) NP_689914 NP_839990 Location (UCSC) Chr 7: 48.17 – 48.65 Mb Chr 11: 9.14 – 9.63 Mb PubMed search [3] [4]
Wikidata
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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]