ABCB7

From Wikipedia, the free encyclopedia

ATP-binding cassette, sub-family B (MDR/TAP), member 7

Identifiers

ABCB7; ABC7; ASAT; Atm1p; EST140535

External IDs

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

n/a

n/a

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]

1 See also
2 References
3 Further reading
4 External links

[edit] See also

ATP-binding cassette transporter

[edit] References

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

[edit] 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.

[edit] External links

MeSH ABCB7+protein,+human

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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	1A1-7, 1A1, 1A2, 1A3, 1A4, 1A5, 2A1, 2A2, 2A3, 2A4, 2A5, 2A6, 2A8, 2A9, 2A10, 2A12, 3A1, 3A2, 4A1, 4A2, 4A3, 4A4, 4A5, 4A7, 4A8, 4A11, 5A1-2, 5A1, 5A3, 5A5, 5A8, 6A1, 6A2, 6A3, 6A4, 6A5, 6A8, 6A9, 6A19, 7A1, 7A2, 7A3, 7A4, 7A5, 7A7, 7A8, 7A9, 7A11, 8A1-3, 9A1, 9A2, 9A3, 9A3R1, 9A3R2, 9A5, 9A6, 9A8, 10A1, 10A2, 10A3, 10A7, 11A1, 11A2, 11A3, 12A1-2, 12A3, 12A4, 12A5, 12A6, 12A7, 14A1, 13A3, 14A2, 15A1, 15A2, 16A1, 16A2, 16A3, 16A4, 17A1, 17A5, 17A6-8, 17A7, 18A1, 18A2, 18A3, 19A1, 19A2, 19A3, 20A1, 20A2, 22A1, 22A2, 22A3, 22A4, 22A5, 22A6, 22A7, 22A9, 22A11, 22A12, 22A18, 23A1, 23A2, 24A1-2, 24A5, 25A1, 25A3, 25A4, 25A4-6, 25A8, 25A10, 25A11, 25A12, 25A13, 25A14, 25A15, 25A17, 25A19, 25A20, 25A27, 25A31, 25A37, 25A39, 26A2, 26A3, 26A4, 26A5, 26A6, 26A7, 26A8, 27A1, 27A2, 27A3, 27A4, 28A1, 28A2, 29A1, 29A2, 29A4, 30A4, 30A7, 30A8, 31A1, 31A2, 32A1, 34A1, 34A2, 34A3, 35A1, 35A2, 35B2, 35B4, 35C1, 36A1, 37A4, 38A2, 38A3, 39A1, 39A2, 39A3, 39A4, 39A6, 39A7, 40A1, 43A1 44A1, 44A2, 44A4, 45A2, O1A2, O1B1, O1B3, O2B1, O431, O4A1

Monosaccharide	GLUT1, GLUT2, GLUT3, GLUT4, GLUT5, GLUT6, GLUT8, GLUT9

Other	Amino acid (CD98) - Fatty acid (CD36) - Ion channels - Ion pumps - Mitochondrial membrane transport protein - Neurotransmitter transport proteins - Nuclear (Importin, Karyopherin)