ABCA9

ABCA9
Identifiers
Aliases	ABCA9 , EST640918, ATP binding cassette subfamily A member 9
External IDs	OMIM: 612507; MGI: 2386796; HomoloGene: 33332; GeneCards: ABCA9; OMA:ABCA9 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q24.2 Start 68,974,488 bp [1] End 69,060,949 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 E1 Start 109,991,575 bp [2] End 110,059,022 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa tibial nerve sural nerve left ovary myocardium of left ventricle subcutaneous adipose tissue right ovary cardiac muscle tissue of right atrium pericardium apex of heart Top expressed in sciatic nerve ciliary body vestibular sensory epithelium stroma of bone marrow otolith organ iris utricle dermis umbilical cord conjunctival fornix 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 membrane intracellular membrane-bounded organelle Biological process lipid transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10350 217262 Ensembl ENSG00000154258 ENSMUSG00000041797 UniProt Q8IUA7 Q8K449 RefSeq (mRNA) NM_080283 NM_172386 NM_147220 RefSeq (protein) NP_525022 NP_671753 Location (UCSC) Chr 17: 68.97 – 69.06 Mb Chr 11: 109.99 – 110.06 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette sub-family A member 9 is a protein that in humans is encoded by the ABCA9 gene. ^[5]

Function

This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. This gene is a member of the ABCA subfamily and is clustered with four other ABCA subfamily members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000154258 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041797 – 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. "Entrez Gene: ABCA9 ATP-binding cassette, sub-family A (ABC1), member 9".

Further reading

• Dean M, Rzhetsky A, Allikmets R (2001). "The human ATP-binding cassette (ABC) transporter superfamily". Genome Res. 11 (7): 1156–66. doi: 10.1101/gr.184901 . PMID   11435397. S2CID   9528197.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039. S2CID   21903526.
• Mammalian Gene Collection Program Team, Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences . 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Piehler A, Kaminski WE, Wenzel JJ, et al. (2002). "Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9" (PDF). Biochem. Biophys. Res. Commun. 295 (2): 408–16. doi:10.1016/S0006-291X(02)00659-9. PMID   12150964.
• Allikmets R, Gerrard B, Hutchinson A, Dean M (1997). "Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database". Hum. Mol. Genet. 5 (10): 1649–55. doi: 10.1093/hmg/5.10.1649 . PMID   8894702.
• Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi: 10.1101/gr.6.9.807 . PMID   8889549.

External links

• ABCA9 human gene location in the UCSC Genome Browser .
• ABCA9 human gene details in the UCSC Genome Browser .