ABCB6

ABCB6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3NH6, 3NH9, 3NHA, 3NHB
Identifiers
Aliases	ABCB6, ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, umat, PSHK2, ATP binding cassette subfamily B member 6 (Langereis blood group)
External IDs	OMIM: 605452; MGI: 1921354; HomoloGene: 11375; GeneCards: ABCB6; OMA:ABCB6 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q35 Start 219,209,772 bp End 219,218,994 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 C4 Start 75,148,361 bp End 75,157,036 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right ovary right hemisphere of cerebellum left ovary right lobe of thyroid gland nucleus accumbens hypothalamus left testis right frontal lobe left lobe of thyroid gland caudate nucleus Top expressed in bone marrow spermatocyte proximal tubule liver spermatid white adipose tissue right kidney human kidney muscle of thigh morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding heme transmembrane transporter activity ABC-type heme transporter activity ATPase activity heme binding efflux transmembrane transporter activity ATP binding Cellular component integral component of membrane endosome Golgi apparatus endoplasmic reticulum membrane membrane ATP-binding cassette (ABC) transporter complex Golgi membrane plasma membrane integral component of mitochondrial outer membrane mitochondrial outer membrane endoplasmic reticulum mitochondrion mitochondrial envelope endosome membrane extracellular exosome nucleoplasm cytosol vacuolar membrane Biological process porphyrin-containing compound biosynthetic process heme transport brain development transmembrane transport skin development cellular iron ion homeostasis transport heme transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10058 74104 Ensembl ENSG00000115657 ENSMUSG00000026198 UniProt Q9NP58 Q9DC29 RefSeq (mRNA) NM_005689 NM_001349828 NM_023732 RefSeq (protein) NP_005680 NP_001336757 NP_076221 Location (UCSC) Chr 2: 219.21 – 219.22 Mb Chr 1: 75.15 – 75.16 Mb PubMed search
Wikidata
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ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.

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. The protein also carries the Lan antigen, which defines the Lan blood group system.

See also

• ATP-binding cassette transporter

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. Bibcode:2006Natur.443..586K. doi:10.1038/nature05125. PMID 17006453. S2CID 4300410.
• 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. S2CID 42668666.
• 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. Bibcode:2002PNAS...9916899M. 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 U.S. 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.
• Overview of all the structural information available in the PDB for UniProt: Q9NP58 (ATP-binding cassette sub-family B member 6, mitochondrial) at the PDBe-KB.

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