Protein-coding gene in the species Homo sapiens
ABCA8 |
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Identifiers |
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Aliases | ABCA8, ATP binding cassette subfamily A member 8 |
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External IDs | OMIM: 612505; MGI: 1351668; HomoloGene: 56029; GeneCards: ABCA8; OMA:ABCA8 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 17 (human)[1] |
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| Band | 17q24.2 | Start | 68,867,289 bp[1] |
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End | 68,955,392 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 11 (mouse)[2] |
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| Band | 11 E1|11 72.88 cM | Start | 109,823,016 bp[2] |
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End | 109,886,671 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - spinal ganglia
- trigeminal ganglion
- parietal pleura
- pericardium
- tibial nerve
- cardiac muscle tissue of right atrium
- germinal epithelium
- corpus callosum
- sural nerve
- vena cava
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| Top expressed in | - lumbar spinal ganglion
- muscle of thigh
- liver
- neural layer of retina
- left lobe of liver
- dentate gyrus of hippocampal formation granule cell
- esophagus
- extraocular muscle
- upper arm
- triceps brachii muscle
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| More reference expression data |
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BioGPS | | More reference expression data |
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Gene ontology |
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Molecular function | - nucleotide binding
- ATPase activity
- ATP binding
- ABC-type xenobiotic transporter activity
- ATPase-coupled transmembrane transporter activity
- lipid transporter activity
| Cellular component | - integral component of membrane
- plasma membrane
- membrane
- mitochondrial inner membrane
- intracellular membrane-bounded organelle
| Biological process | - lipid transport
- xenobiotic transport
- xenobiotic transmembrane transport
- transmembrane transport
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001288985 NM_001288986 NM_007168 NM_001375771 NM_001375772 |
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RefSeq (protein) | |
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NP_001275914 NP_001275915 NP_009099 NP_001362700 NP_001362701 |
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Location (UCSC) | Chr 17: 68.87 – 68.96 Mb | Chr 11: 109.82 – 109.89 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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ATP-binding cassette sub-family A member 8 is a protein that in humans is encoded by the ABCA8 gene.[5]
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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The function of this protein has not yet been determined.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000141338 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020620 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8".
Further reading
- 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.
- Mammalian Gene Collection Program Team, Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Tsuruoka S, Ishibashi K, Yamamoto H, et al. (2002). "Functional analysis of ABCA8, a new drug transporter". Biochem. Biophys. Res. Commun. 298 (1): 41–5. doi:10.1016/S0006-291X(02)02389-6. PMID 12379217.
- Iida A, Saito S, Sekine A, et al. (2002). "Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8". J. Hum. Genet. 47 (6): 285–310. doi:10.1007/s100380200041. PMID 12111378.
- Harrington JJ, Sherf B, Rundlett S, et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013. S2CID 25064683.
- Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
External links
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see also ABC transporter disorders |
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