ABCB6: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''ATP-binding cassette sub-family B member 6, mitochondrial''' is a [[protein]] that in humans is encoded by the ''ABCB6'' [[gene]].<ref name="pmid8894702">{{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 |date=Feb 1997 | pmid = 8894702 | pmc = | doi =10.1093/hmg/5.10.1649  }}</ref><ref name="pmid9110174">{{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | title = Large-Scale Concatenation cDNA Sequencing | journal = Genome Res | volume = 7 | issue = 4 | pages = 353–8 |date=Jun 1997 | pmid = 9110174 | pmc = 139146 | doi =  10.1101/gr.7.4.353}}</ref><ref name="pmid23519333">{{cite journal | vauthors = Zhang C, Li D, Zhang J, Chen X  | title = Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria | journal = J Invest Dermatol |date=Mar 2013 | pmid = 23519333 | doi =10.1038/jid.2013.145 | volume=133 | issue=9 | pages=2221–8}}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = ATP-binding cassette, sub-family B (MDR/TAP), member 6
| HGNCid = 47
| Symbol = ABCB6
| AltSymbols =; PRP; ABC; ABC14; EST45597; FLJ22414; MTABC3; umat
| OMIM = 605452
| ECnumber = 
| Homologene = 11375
| MGIid = 1921354
| GeneAtlas_image1 = PBB_GE_ABCB6_203192_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{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:0005740 |text = mitochondrial envelope}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0019867 |text = outer membrane}} {{GNF_GO|id=GO:0043190 |text = ATP-binding cassette (ABC) transporter complex}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006879 |text = cellular iron ion homeostasis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10058
    | Hs_Ensembl = ENSG00000115657
    | Hs_RefseqProtein = NP_005680
    | Hs_RefseqmRNA = NM_005689
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 219782738
    | Hs_GenLoc_end = 219791917
    | Hs_Uniprot = Q9NP58
    | Mm_EntrezGene = 74104
    | Mm_Ensembl = ENSMUSG00000026198
    | Mm_RefseqmRNA = NM_023732
    | Mm_RefseqProtein = NP_076221
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 1
    | Mm_GenLoc_start = 75054785
    | Mm_GenLoc_end = 75063430
    | Mm_Uniprot = O70322
  }}
}}
'''ATP-binding cassette, sub-family B (MDR/TAP), member 6''', also known as '''ABCB6''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10058| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| 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 half-transporter likely plays a role in mitochondrial function.  Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function.<ref name="entrez">{{cite web | title = Entrez Gene: ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10058| accessdate = }}</ref>
| 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 half-transporter likely plays a role in mitochondrial function.  Localized to 2q26, this gene is considered a candidate gene for Dyschromatosis Universalis Hereditaria, a disorder of skin pigment metabolism.<ref name="pmid23519333"/>
}}
}}


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


==Further reading==
==Further reading==
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| citations =  
| citations =  
*{{cite journal  | author=Paterson JK, Shukla S, Black CM, ''et al.'' |title=Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane. |journal=Biochemistry |volume=46 |issue= 33 |pages= 9443-52 |year= 2007 |pmid= 17661442 |doi= 10.1021/bi700015m }}
*{{cite journal  | vauthors=Paterson JK, Shukla S, Black CM |title=Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane |journal=Biochemistry |volume=46 |issue= 33 |pages= 9443–52 |year= 2007 |pmid= 17661442 |doi= 10.1021/bi700015m |display-authors=etal}}
*{{cite journal  | author=Krishnamurthy PC, Du G, Fukuda Y, ''et al.'' |title=Identification of a mammalian mitochondrial porphyrin transporter. |journal=Nature |volume=443 |issue= 7111 |pages= 586-9 |year= 2006 |pmid= 17006453 |doi= 10.1038/nature05125 }}
*{{cite journal  | vauthors=Krishnamurthy PC, Du G, Fukuda Y |title=Identification of a mammalian mitochondrial porphyrin transporter |journal=Nature |volume=443 |issue= 7111 |pages= 586–9 |year= 2006 |pmid= 17006453 |doi= 10.1038/nature05125 |display-authors=etal}}
*{{cite journal  | author=Kurashima-Ito K, Ikeya T, Senbongi H, ''et al.'' |title=Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6. |journal=J. Biomol. NMR |volume=35 |issue= 1 |pages= 53-71 |year= 2006 |pmid= 16791740 |doi= 10.1007/s10858-006-9000-6 }}
*{{cite journal  | vauthors=Kurashima-Ito K, Ikeya T, Senbongi H |title=Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6 |journal=J. Biomol. NMR |volume=35 |issue= 1 |pages= 53–71 |year= 2006 |pmid= 16791740 |doi= 10.1007/s10858-006-9000-6 |display-authors=etal}}
*{{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  | vauthors=Gerhard DS, Wagner L, Feingold EA |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 | pmc=528928 |display-authors=etal}}
*{{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  | vauthors=Ota T, Suzuki Y, Nishikawa T |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 |display-authors=etal}}
*{{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  | vauthors=Strausberg RL, Feingold EA, Grouse LH |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 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Visapää I, Fellman V, Lanyi L, Peltonen L |title=ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. |journal=Am. J. Med. Genet. |volume=109 |issue= 3 |pages= 202-5 |year= 2002 |pmid= 11977179 |doi= 10.1002/ajmg.10331 }}
*{{cite journal  | vauthors=Visapää I, Fellman V, Lanyi L, Peltonen L |title=ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis |journal=Am. J. Med. Genet. |volume=109 |issue= 3 |pages= 202–5 |year= 2002 |pmid= 11977179 |doi= 10.1002/ajmg.10331 }}
*{{cite journal  | author=Emadi-Konjin HP, Zhang H, Anandan V, ''et al.'' |title=Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6. |journal=Biochim. Biophys. Acta |volume=1574 |issue= 2 |pages= 117-30 |year= 2002 |pmid= 11955620 |doi=  }}
*{{cite journal  | vauthors=Emadi-Konjin HP, Zhang H, Anandan V |title=Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6 |journal=Biochim. Biophys. Acta |volume=1574 |issue= 2 |pages= 117–30 |year= 2002 |pmid= 11955620 |doi=  10.1016/s0167-4781(01)00340-2|display-authors=etal}}
*{{cite journal  | author=Mitsuhashi N, Miki T, Senbongi H, ''et al.'' |title=MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. |journal=J. Biol. Chem. |volume=275 |issue= 23 |pages= 17536-40 |year= 2000 |pmid= 10837493 |doi=  }}
*{{cite journal  | vauthors=Mitsuhashi N, Miki T, Senbongi H |title=MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis |journal=J. Biol. Chem. |volume=275 |issue= 23 |pages= 17536–40 |year= 2000 |pmid= 10837493 |doi=10.1074/jbc.275.23.17536 |display-authors=etal}}
*{{cite journal  | author=Furuya KN, Bradley G, Sun D, ''et al.'' |title=Identification of a new P-glycoprotein-like ATP-binding cassette transporter gene that is overexpressed during hepatocarcinogenesis. |journal=Cancer Res. |volume=57 |issue= 17 |pages= 3708-16 |year= 1997 |pmid= 9288777 |doi=  }}
*{{cite journal  | vauthors=Furuya KN, Bradley G, Sun D |title=Identification of a new P-glycoprotein-like ATP-binding cassette transporter gene that is overexpressed during hepatocarcinogenesis |journal=Cancer Res. |volume=57 |issue= 17 |pages= 3708–16 |year= 1997 |pmid= 9288777 |doi=  |display-authors=etal}}
*{{cite journal  | author=Yu W, Andersson B, Worley KC, ''et al.'' |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353-8 |year= 1997 |pmid= 9110174 |doi=  }}
*{{cite journal  | vauthors=Andersson B, Wentland MA, Ricafrente JY |title=A "double adaptor" method for improved shotgun library construction |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 |display-authors=etal}}
*{{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  | author=Andersson B, Wentland MA, Ricafrente JY, ''et al.'' |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107-13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
}}
}}
{{refend}}
{{refend}}
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== External links ==
== External links ==
* {{MeshName|ABCB6+protein,+human}}
* {{MeshName|ABCB6+protein,+human}}
* {{UCSC genome browser|ABCB6}}
* {{UCSC gene details|ABCB6}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{ABC transporters}}
 
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{{DEFAULTSORT:Abcb6}}
[[Category:ABC transporters]]
[[Category:ABC transporters]]
{{WikiDoc Sources}}
 
 
{{membrane-protein-stub}}

Revision as of 05:53, 19 May 2016

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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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Ensembl

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RefSeq (mRNA)

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RefSeq (protein)

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Wikidata
View/Edit Human

ATP-binding cassette sub-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.[1][2][3]

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 half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for Dyschromatosis Universalis Hereditaria, a disorder of skin pigment metabolism.[3]

See also

References

  1. ↑ Allikmets R, Gerrard B, Hutchinson A, Dean M (Feb 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.
  2. ↑ Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Jun 1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
  3. ↑ 3.0 3.1 Zhang C, Li D, Zhang J, Chen X (Mar 2013). "Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria". J Invest Dermatol. 133 (9): 2221–8. doi:10.1038/jid.2013.145. PMID 23519333.

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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