ABCB6

ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
Rendering based on PDB 3NH6​.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 3NH6​, 3NH9​, 3NHA​, 3NHB​
Identifiers
Symbols	ABCB6 ; ABC; ABC14; DUH3; LAN; MCOPCB7; MTABC3; PRP; umat
External IDs	OMIM: 605452 MGI: 1921354 HomoloGene: 11375 GeneCards: ABCB6 Gene
Gene ontology Molecular function • ATP binding • heme transporter activity • heme-transporting ATPase activity • efflux transmembrane transporter activity • heme binding Cellular component • mitochondrion • mitochondrial envelope • mitochondrial outer membrane • endosome • endoplasmic reticulum • Golgi apparatus • plasma membrane • integral component of mitochondrial outer membrane • ATP-binding cassette (ABC) transporter complex • extracellular exosome Biological process • porphyrin-containing compound biosynthetic process • transport • cellular iron ion homeostasis • brain development • heme transport • skin development • transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	10058	74104
Ensembl	ENSG00000115657	ENSMUSG00000026198
UniProt	Q9NP58	Q9DC29
RefSeq (mRNA)	NM_005689	NM_023732
RefSeq (protein)	NP_005680	NP_076221
Location (UCSC)	Chr 2: 219.21 – 219.22 Mb	Chr 1: 75.17 – 75.18 Mb
PubMed search

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

• ATP-binding cassette transporter

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. 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

• Paterson JK, Shukla S, Black CM; et al. (2007). "Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane". Biochemistry 46 (33): 9443–52. doi:10.1021/bi700015m. PMID 17661442.
• Krishnamurthy PC, Du G, Fukuda Y; et al. (2006). "Identification of a mammalian mitochondrial porphyrin transporter". Nature 443 (7111): 586–9. doi:10.1038/nature05125. PMID 17006453.
• Kurashima-Ito K, Ikeya T, Senbongi H; et al. (2006). "Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6". J. Biomol. NMR 35 (1): 53–71. doi:10.1007/s10858-006-9000-6. PMID 16791740.
• 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. PMC 528928. PMID 15489334.
• 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.
• 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. PMC 139241. PMID 12477932.
• Visapää I, Fellman V, Lanyi L, Peltonen L (2002). "ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis". Am. J. Med. Genet. 109 (3): 202–5. doi:10.1002/ajmg.10331. PMID 11977179.
• Emadi-Konjin HP, Zhang H, Anandan V; et al. (2002). "Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6". Biochim. Biophys. Acta 1574 (2): 117–30. doi:10.1016/s0167-4781(01)00340-2. PMID 11955620.
• Mitsuhashi N, Miki T, Senbongi H; et al. (2000). "MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis". J. Biol. Chem. 275 (23): 17536–40. doi:10.1074/jbc.275.23.17536. PMID 10837493.
• Furuya KN, Bradley G, Sun D; et al. (1997). "Identification of a new P-glycoprotein-like ATP-binding cassette transporter gene that is overexpressed during hepatocarcinogenesis". Cancer Res. 57 (17): 3708–16. PMID 9288777.
• Andersson B, Wentland MA, Ricafrente JY; et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.

External links

• ABCB6 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
• ABCB6 human gene location in the UCSC Genome Browser.
• ABCB6 human gene details in the UCSC Genome Browser.

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