Biology:F8A1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
40-kDa huntingtin-associated protein is a protein that in humans is encoded by the F8A1, F8A2, and F8A3 genes.[1][2][3][4]
F8A1 is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A1, is repeated twice extragenically closer to the Xq telomere (genes F8A2, F8A3). Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types.[2]
References
- ↑ "A transcribed gene in an intron of the human factor VIII gene". Genomics 7 (1): 1–11. Jun 1990. doi:10.1016/0888-7543(90)90512-S. PMID 2110545.
- ↑ 2.0 2.1 "F8A1 coagulation factor VIII associated 1 [ Homo sapiens (human) "]. https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8263.
- ↑ "F8A2 coagulation factor VIII associated 2 [ Homo sapiens (human) "]. https://www.ncbi.nlm.nih.gov/gene/474383.
- ↑ "F8A3 coagulation factor VIII associated 3 [ Homo sapiens (human) "]. https://www.ncbi.nlm.nih.gov/gene/474384.
Further reading
- Levinson B; Kenwrick S; Gamel P et al. (1992). "Evidence for a third transcript from the human factor VIII gene". Genomics 14 (3): 585–9. doi:10.1016/S0888-7543(05)80155-7. PMID 1427887.
- Levinson B; Bermingham JR; Metzenberg A et al. (1992). "Sequence of the human factor VIII-associated gene is conserved in mouse". Genomics 13 (3): 862–5. doi:10.1016/0888-7543(92)90170-W. PMID 1639415.
- Naylor JA; Buck D; Green P et al. (1996). "Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions". Hum. Mol. Genet. 4 (7): 1217–24. doi:10.1093/hmg/4.7.1217. PMID 8528212.
- "Isolation of a 40-kDa Huntingtin-associated protein". J. Biol. Chem. 276 (5): 3188–94. 2001. doi:10.1074/jbc.M008099200. PMID 11035034.
- "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. 2001. doi:10.1101/gr.143000. PMID 11076863.
- Simpson JC; Wellenreuther R; Poustka A et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMID 11256614.
- 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. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Clustered basic residues within segment 484-510 of the factor VIIIa A2 subunit contribute to the catalytic efficiency for factor Xa generation". J. Thromb. Haemost. 2 (3): 452–8. 2004. doi:10.1111/j.1538-7933.2004.00625.x. PMID 15009463.
- 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. PMID 15489334.
- Wiemann S; Arlt D; Huber W et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336.
- "Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A". Genome Res. 15 (2): 214–23. 2005. doi:10.1101/gr.2946205. PMID 15687285.
- Mehrle A; Rosenfelder H; Schupp I et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMID 16381901.
- Brown V; Brown RA; Ozinsky A et al. (2006). "Binding specificity of Toll-like receptor cytoplasmic domains". Eur. J. Immunol. 36 (3): 742–53. doi:10.1002/eji.200535158. PMID 16482509.
- "A1 subunit-mediated regulation of thrombin-activated factor VIII A2 subunit dissociation". J. Biol. Chem. 281 (20): 13922–30. 2006. doi:10.1074/jbc.M513124200. PMID 16513639.
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