ABCA9
| ATP-binding cassette, sub-family A (ABC1), member 9 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | ABCA9 ; EST640918 | ||||||||||||
| External IDs | OMIM: 612507 MGI: 2386796 HomoloGene: 33332 GeneCards: ABCA9 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 10350 | 217262 | |||||||||||
| Ensembl | ENSG00000154258 | ENSMUSG00000041797 | |||||||||||
| UniProt | Q8IUA7 | Q8K449 | |||||||||||
| RefSeq (mRNA) | NM_080283 | NM_147220 | |||||||||||
| RefSeq (protein) | NP_525022 | NP_671753 | |||||||||||
| Location (UCSC) |
Chr 17: 68.97 – 69.06 Mb |
Chr 11: 110.1 – 110.17 Mb | |||||||||||
| PubMed search | |||||||||||||
ATP-binding cassette sub-family A member 9 is a protein that in humans is encoded by the ABCA9 gene.[1]
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. ABC genes are divided into seven distinct subfamilies ( ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import.[1]
References
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.
- 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.
- Mammalian Gene Collection Program Team; Strausberg, R. L.; Feingold, E. A.; Grouse, L. H.; 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. 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.". 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.
This article is issued from Wikipedia - version of the Saturday, August 29, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.