ABCB7

ATP-binding cassette, sub-family B (MDR/TAP), member 7
Identifiers
Symbol(s)	ABCB7; ABC7; ASAT; Atm1p; EST140535
External IDs	OMIM: 300135 Homologene: 3175
Gene ontology Molecular Function: • nucleotide binding • ATP binding • heme transporter activity • ATPase activity • ATPase activity, coupled to transmembrane movement of substances Cellular Component: • mitochondrion • mitochondrial inner membrane • membrane • integral to membrane Biological Process: • transport
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	22	na
Ensembl	ENSG00000131269	na
Uniprot	O75027	na
Refseq	NM_004299 (mRNA) NP_004290 (protein)	na (mRNA) na (protein)
Location	Chr X: 74.19 - 74.29 Mb	na
Pubmed search	[1]	na

ATP-binding cassette, sub-family B (MDR/TAP), member 7, also known as ABCB7, is a human gene.

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.

See also

• ATP-binding cassette transporter

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. PMID 8894702.
• Savary S, Allikmets R, Denizot F, et al. (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.
• 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. 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. PMID 9653160.
• 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. 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. 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. PMID 11042152.
• 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. 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. PMID 12477932.
• 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. PMID 15489334.
• 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. PMID 15772651.

External links

• MeSH ABCB7+protein,+human

Template:Membrane-protein-stub This article incorporates text from the United States National Library of Medicine, which is in the public domain.