ABCB8

ATP-binding cassette, sub-family B (MDR/TAP), member 8
Identifiers
Symbols	ABCB8 ; EST328128; M-ABC1; MABC1
External IDs	OMIM: 605464 MGI: 1351667 HomoloGene: 5203 GeneCards: ABCB8 Gene
Gene ontology Molecular function • transporter activity • ATP binding • ATPase activity, coupled to transmembrane movement of substances Cellular component • nucleus • nucleolus • mitochondrion • mitochondrial envelope • mitochondrial inner membrane • membrane • integral component of membrane • ATP-binding cassette (ABC) transporter complex Biological process • transport • metabolic process • transmembrane transport Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	11194	74610
Ensembl	ENSG00000197150	ENSMUSG00000028973
UniProt	Q9NUT2	Q9CXJ4
RefSeq (mRNA)	NM_001282291	NM_029020
RefSeq (protein)	NP_001269220	NP_083296
Location (UCSC)	Chr 7: 151.03 – 151.05 Mb	Chr 5: 24.39 – 24.41 Mb
PubMed search

ATP-binding cassette sub-family B member 8, mitochondrial is a protein that in humans is encoded by the ABCB8 gene.^[1][2]

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. The function of this half-transporter has not yet been determined; however, it may involve the compartmentalization and transport of heme, as well as peptides, from the mitochondria to the nucleus and cytosol. This protein may also play a role in the transport of phospholipids into mitochondrial membranes.^[2]

See also

• ATP-binding cassette transporter
• ABCB8 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

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. "Entrez Gene: ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8".

Further reading

• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• 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.
• Saito S, Iida A, Sekine A; et al. (2002). "Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population.". J. Hum. Genet. 47 (1): 38–50. doi:10.1007/s10038-002-8653-6. PMID 11829140.
• Hogue DL, Liu L, Ling V (1999). "Identification and characterization of a mammalian mitochondrial ATP-binding cassette membrane protein.". J. Mol. Biol. 285 (1): 379–89. doi:10.1006/jmbi.1998.2259. PMID 9878413.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

External links

• ABCB8 human gene location in the UCSC Genome Browser.
• ABCB8 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.