ABCB7: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''ATP-binding cassette sub-family B member 7, mitochondrial''' is a [[protein]] that in humans is encoded by the ''ABCB7'' [[gene]].<ref name="pmid9143506">{{cite journal | vauthors = Savary S, Allikmets R, Denizot F, Luciani MF, Mattei MG, Dean M, Chimini G | title = Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human | journal = Genomics | volume = 41 | issue = 2 | pages = 275–8 | date = July 1997 | pmid = 9143506 | pmc = | doi = 10.1006/geno.1997.4658 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = ATP-binding cassette, sub-family B (MDR/TAP), member 7
| HGNCid = 48
| Symbol = ABCB7
| AltSymbols =; ABC7; ASAT; Atm1p; EST140535
| OMIM = 300135
| ECnumber = 
| Homologene = 3175
| MGIid = 
| GeneAtlas_image1 = PBB_GE_ABCB7_209620_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0015232 |text = heme transporter activity}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}} {{GNF_GO|id=GO:0042626 |text = ATPase activity, coupled to transmembrane movement of substances}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005743 |text = mitochondrial inner membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 22
    | Hs_Ensembl = ENSG00000131269
    | Hs_RefseqProtein = NP_004290
    | Hs_RefseqmRNA = NM_004299
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 74189834
    | Hs_GenLoc_end = 74292857
    | Hs_Uniprot = O75027
    | Mm_EntrezGene = 
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = 
    | Mm_RefseqProtein = 
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''ATP-binding cassette, sub-family B (MDR/TAP), member 7''', also known as '''ABCB7''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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]].
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22| accessdate = }}</ref>
}}


==See also==
== Clinical significance ==
 
Mutations in this gene have been implicated in X-linked [[sideroblastic anemia]] with ataxia.<ref name="entrez"/>
 
== Interactions ==
 
ABCB7 has been shown to [[Protein-protein interaction|interact]] with [[Ferrochelatase]].<ref name="pmid12480705">{{cite journal | vauthors = Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T | title = Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase | journal = Blood | volume = 101 | issue = 8 | pages = 3274–80 | date = April 2003 | pmid = 12480705 | doi = 10.1182/blood-2002-04-1212 }}</ref>
 
== See also ==
* [[ATP-binding cassette transporter]]
* [[ATP-binding cassette transporter]]


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Allikmets R, Gerrard B, Hutchinson A, Dean M | title = Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. | journal = Hum. Mol. Genet. | volume = 5 | issue = 10 | pages = 1649–55 | year = 1997 | pmid = 8894702 | doi = 10.1093/hmg/5.10.1649 }}
| citations =
* {{cite journal | vauthors = Shimada Y, Okuno S, Kawai A, Shinomiya H, Saito A, Suzuki M, Omori Y, Nishino N, Kanemoto N, Fujiwara T, Horie M, Takahashi E | title = Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. | journal = J. Hum. Genet. | volume = 43 | issue = 2 | pages = 115–22 | year = 1998 | pmid = 9621516 | doi = 10.1007/s100380050051 }}
*{{cite journal | author=Allikmets R, Gerrard B, Hutchinson A, Dean M |title=Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. |journal=Hum. Mol. Genet. |volume=5 |issue= 10 |pages= 1649-55 |year= 1997 |pmid= 8894702 |doi=  }}
* {{cite journal | vauthors = Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z | title = Identification of genes expressed in human CD34+ hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 95 | issue = 14 | pages = 8175–80 | year = 1998 | pmid = 9653160 | pmc = 20949 | doi = 10.1073/pnas.95.14.8175 }}
*{{cite journal  | author=Savary S, Allikmets R, Denizot F, ''et al.'' |title=Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. |journal=Genomics |volume=41 |issue= 2 |pages= 275-8 |year= 1997 |pmid= 9143506 |doi= 10.1006/geno.1997.4658 }}
* {{cite journal | vauthors = Csere P, Lill R, Kispal G | title = Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p | journal = FEBS Lett. | volume = 441 | issue = 2 | pages = 266–70 | year = 1999 | pmid = 9883897 | doi = 10.1016/S0014-5793(98)01560-9 }}
*{{cite journal | author=Shimada Y, Okuno S, Kawai A, ''et al.'' |title=Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. |journal=J. Hum. Genet. |volume=43 |issue= 2 |pages= 115-22 |year= 1998 |pmid= 9621516 |doi= }}
* {{cite journal | vauthors = Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM | title = Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A) | journal = Hum. Mol. Genet. | volume = 8 | issue = 5 | pages = 743–9 | year = 1999 | pmid = 10196363 | doi = 10.1093/hmg/8.5.743 }}
*{{cite journal | author=Mao M, Fu G, Wu JS, ''et al.'' |title=Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 14 |pages= 8175-80 |year= 1998 |pmid= 9653160 |doi= }}
* {{cite journal | vauthors = Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z | title = Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells | journal = Genome Res. | volume = 10 | issue = 10 | pages = 1546–60 | year = 2001 | pmid = 11042152 | pmc = 310934 | doi = 10.1101/gr.140200 }}
*{{cite journal | author=Csere P, Lill R, Kispal G |title=Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. |journal=FEBS Lett. |volume=441 |issue= 2 |pages= 266-70 |year= 1999 |pmid= 9883897 |doi= }}
* {{cite journal | vauthors = Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF | title = Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation | journal = Blood | volume = 96 | issue = 9 | pages = 3256–64 | year = 2000 | pmid = 11050011 | doi =  }}
*{{cite journal | author=Allikmets R, Raskind WH, Hutchinson A, ''et al.'' |title=Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). |journal=Hum. Mol. Genet. |volume=8 |issue= 5 |pages= 743-9 |year= 1999 |pmid= 10196363 |doi= }}
* {{cite journal | vauthors = Maguire A, Hellier K, Hammans S, May A | title = X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L | journal = Br. J. Haematol. | volume = 115 | issue = 4 | pages = 910–7 | year = 2002 | pmid = 11843825 | doi = 10.1046/j.1365-2141.2001.03015.x }}
*{{cite journal | author=Zhang QH, Ye M, Wu XY, ''et al.'' |title=Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. |journal=Genome Res. |volume=10 |issue= 10 |pages= 1546-60 |year= 2001 |pmid= 11042152 |doi= }}
* {{cite journal | vauthors = Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T | title = Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase | journal = Blood | volume = 101 | issue = 8 | pages = 3274–80 | year = 2003 | pmid = 12480705 | doi = 10.1182/blood-2002-04-1212 }}
*{{cite journal | author=Bekri S, Kispal G, Lange H, ''et al.'' |title=Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. |journal=Blood |volume=96 |issue= 9 |pages= 3256-64 |year= 2000 |pmid= 11050011 |doi=  }}
*{{cite journal | author=Maguire A, Hellier K, Hammans S, May A |title=X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. |journal=Br. J. Haematol. |volume=115 |issue= 4 |pages= 910-7 |year= 2002 |pmid= 11843825 |doi= }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=Taketani S, Kakimoto K, Ueta H, ''et al.'' |title=Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. |journal=Blood |volume=101 |issue= 8 |pages= 3274-80 |year= 2003 |pmid= 12480705 |doi= 10.1182/blood-2002-04-1212 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Ross MT, Grafham DV, Coffey AJ, ''et al.'' |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325-37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sider-anemia  GeneReviews/NIH/NCBI/UW entry on X-Linked Sideroblastic Anemia and Ataxia]
* {{MeshName|ABCB7+protein,+human}}
* {{MeshName|ABCB7+protein,+human}}
* {{UCSC genome browser|ABCB7}}
* {{UCSC gene details|ABCB7}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{ABC transporters}}
 
{{DEFAULTSORT:Abcb7}}
[[Category:ABC transporters]]
[[Category:ABC transporters]]
{{WikiDoc Sources}}
 
{{membrane-protein-stub}}

Latest revision as of 17:38, 29 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.[1][2]

Function

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.

Clinical significance

Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.[2]

Interactions

ABCB7 has been shown to interact with Ferrochelatase.[3]

See also

References

  1. ↑ Savary S, Allikmets R, Denizot F, Luciani MF, Mattei MG, Dean M, Chimini G (July 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.
  2. ↑ 2.0 2.1 "Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7".
  3. ↑ Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T (April 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.

Further reading

External links

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

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