Misplaced Pages

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; OMA:ABCB8 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q36.1 Start 151,028,422 bp End 151,047,782 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 A3 Start 24,598,661 bp End 24,615,052 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell apex of heart right adrenal gland right adrenal cortex right lobe of thyroid gland right hemisphere of cerebellum anterior pituitary left adrenal gland left adrenal cortex left lobe of thyroid gland Top expressed in spermatocyte saccule right ventricle otic vesicle muscle of thigh right kidney otic placode superior frontal gyrus dentate gyrus of hippocampal formation granule cell secondary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function transporter activity ATPase activity ATP binding nucleotide binding ATPase-coupled transmembrane transporter activity Cellular component integral component of membrane mitochondrial envelope ATP-binding cassette (ABC) transporter complex 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: 24.6 – 24.62 Mb PubMed search
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.

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.

See also

• ATP-binding cassette transporter
• ABCB8+protein,+human at the U.S. 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. Bibcode:2002PNAS...9916899M. 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.

This membrane protein–related article is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 7
• ATP-binding cassette transporters
• Membrane protein stubs