ABCA8

ABCA8
Identifiers
Aliases	ABCA8 , ATP binding cassette subfamily A member 8
External IDs	OMIM: 612505 MGI: 1351668 HomoloGene: 56029 GeneCards: ABCA8
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q24.2 Start 68,867,289 bp [1] End 68,955,392 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 E1|11 72.88 cM Start 109,823,016 bp [2] End 109,886,671 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spinal ganglia trigeminal ganglion parietal pleura pericardium tibial nerve germinal epithelium corpus callosum sural nerve vena cava olfactory bulb Top expressed in liver left lobe of liver esophagus extraocular muscle upper arm triceps brachii muscle visual cortex superior frontal gyrus carotid body sciatic nerve More reference expression data BioGPS More reference expression data
Gene ontology 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
Orthologs Species Human Mouse Entrez 10351 27404 Ensembl ENSG00000141338 ENSMUSG00000020620 UniProt O94911 Q8K440 RefSeq (mRNA) NM_001288985 NM_001288986 NM_007168 NM_001375771 NM_001375772 NM_013851 NM_001362749 RefSeq (protein) NP_001275914 NP_001275915 NP_009099 NP_001362700 NP_001362701 NP_038879 NP_001349678 Location (UCSC) Chr 17: 68.87 – 68.96 Mb Chr 11: 109.82 – 109.89 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000141338 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020620 - 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. "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

• ABCA8 human gene location in the UCSC Genome Browser .
• ABCA8 human gene details in the UCSC Genome Browser .