ABCB7
Top
| ATP-binding cassette, sub-family B (MDR/TAP), member 7 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | ABCB7; ABC7; ASAT; Atm1p; EST140535 | ||||||||||||
| External IDs | OMIM: 300135 HomoloGene: 3175 GeneCards: ABCB7 Gene | ||||||||||||
|
|||||||||||||
| RNA expression pattern | |||||||||||||
 |
|||||||||||||
| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 22 | n/a | |||||||||||
| Ensembl | ENSG00000131269 | n/a | |||||||||||
| UniProt | O75027 | n/a | |||||||||||
| RefSeq (mRNA) | NM_004299 | n/a | |||||||||||
| RefSeq (protein) | NP_004290 | n/a | |||||||||||
| Location (UCSC) | Chr X: 74.27 – 74.38 Mb |
n/a | |||||||||||
| PubMed search | [1] | n/a | |||||||||||
ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.[1][2]
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.[2]
|
Contents
|
See also
Interactions
ABCB7 has been shown to interact with Ferrochelatase.[3]
References
- ^ Savary S, Allikmets R, Denizot F, Luciani MF, Mattei MG, Dean M, Chimini G (Jul 1997). "Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human". Genomics 41 (2): 275–8. doi:10.1006/geno.1997.4658. PMID 9143506.
- ^ a b "Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22.
- ^ Taketani, Shigeru; Kakimoto Kazuhiro, Ueta Hiromi, Masaki Ryuichi, Furukawa Takako (Apr. 2003). "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase". Blood (United States) 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. ISSN 0006-4971. PMID 12480705.
Further reading
- 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.
- Shimada Y, Okuno S, Kawai A, et al. (1998). "Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.". J. Hum. Genet. 43 (2): 115–22. doi:10.1007/s100380050051. PMID 9621516.
- Mao M, Fu G, Wu JS, et al. (1998). "Identification of genes expressed in human CD34+ hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning". Proc. Natl. Acad. Sci. U.S.A. 95 (14): 8175–80. doi:10.1073/pnas.95.14.8175. PMC 20949. PMID 9653160. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=20949.
- Csere P, Lill R, Kispal G (1999). "Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p". FEBS Lett. 441 (2): 266–70. doi:10.1016/S0014-5793(98)01560-9. PMID 9883897.
- Allikmets R, Raskind WH, Hutchinson A, et al. (1999). "Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)". Hum. Mol. Genet. 8 (5): 743–9. doi:10.1093/hmg/8.5.743. PMID 10196363.
- Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=310934.
- Bekri S, Kispal G, Lange H, et al. (2000). "Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation". Blood 96 (9): 3256–64. PMID 11050011.
- Maguire A, Hellier K, Hammans S, May A (2002). "X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L". Br. J. Haematol. 115 (4): 910–7. doi:10.1046/j.1365-2141.2001.03015.x. PMID 11843825.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Taketani S, Kakimoto K, Ueta H, et al. (2003). "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase". Blood 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. PMID 12480705.
- 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.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2665286.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
|
||||||||||||||||||||||||||
 |
This membrane protein-related article is a stub. You can help Wikipedia by expanding it. |
This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)
Post a question - any question - to the WikiAnswers community:
Copyrights:
Wikipedia on Answers.com
This article is licensed under the Creative Commons Attribution/Share-Alike License. It uses material from the Wikipedia article ABCB7.
Read more