ABCB8

ABCB8
Identifiers
Aliases	ABCB8 , EST328128, M-ABC1, MABC1, ATP binding cassette subfamily B member 8, MITOSUR
External IDs	OMIM: 605464 MGI: 1351667 HomoloGene: 5203 GeneCards: ABCB8
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7q36.1 Start 151,028,422 bp [1] End 151,047,782 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 A3 Start 24,393,663 bp [2] End 24,410,054 bp [2]
Gene ontology Molecular function • transporter activity • ATPase activity • ATP binding • nucleotide binding • ATPase activity, coupled to transmembrane movement of substances Cellular component • integral component of membrane • mitochondrial envelope • ATP-binding cassette (ABC) transporter complex • cell nucleus • nucleolus • mitochondrion • mitochondrial inner membrane • membrane • mitochondrial membranes Biological process • transmembrane transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	11194	74610
Ensembl	ENSG00000197150	ENSMUSG00000028973
UniProt	Q9NUT2	Q9CXJ4
RefSeq (mRNA)	NM_007188 NM_001282291 NM_001282292 NM_001282293	NM_029020
RefSeq (protein)	NP_001269220 NP_001269221 NP_001269222 NP_009119	NP_083296
Location (UCSC)	Chr 7: 151.03 – 151.05 Mb	Chr 5: 24.39 – 24.41 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette sub-family B member 8, mitochondrial is a protein that in humans is encoded by the ABCB8 gene. ^{[5] [6]}

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. ^[6]

See also

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

References

1. GRCh38: Ensembl release 89: ENSG00000197150 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028973 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "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.