ABCB7
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "ABCB7".

content
ATP-binding cassette, sub-family B (MDR/TAP), member 7
Identifiers
Symbols ABCB7; ABC7; ASAT; Atm1p; EST140535
External IDs OMIM: 300135 HomoloGene: 3175
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 22 n/a
Ensembl ENSG00000131269 n/a
Uniprot O75027 n/a
Refseq NM_004299 (mRNA)
NP_004290 (protein)		 n/a (mRNA)
n/a (protein)
Location Chr X: 74.19 - 74.29 Mb n/a
Pubmed search [1] n/a

ATP-binding cassette, sub-family B (MDR/TAP), member 7, also known as ABCB7, is a human gene.1

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.1

Contents

See also

References

  1. ^ a b "Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7".

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

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v • d • e
Membrane proteins, carrier proteins: membrane transport proteins
ABC-transporter
A1, A2, A3, A4, A7, A8, A12

B1, B2-3, B2, B3, B4, B5, B6, B7, B9, B11

C1, C2, C3, C4, C5, C6, C8, C8-9, C10, C13, C11

D1, D2, D3, D4, E1, F1, F2

G1, G2, G4, Sterolin (G5, G8)
Solute carrier
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