F8A1
| F8A1 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr X: 154.89 – 154.89 Mb | Chr X: 72.27 – 72.27 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
40-kDa huntingtin-associated protein also known as (Coagulation factor VIII associated 1) is a protein that in humans is encoded by the F8A1, F8A2, and F8A3 genes.[5][6][7][8]
F8A1 is contained entirely within
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.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000288722 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000078317 – 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.
- PMID 2110545.
- ^ a b "F8A1 coagulation factor VIII associated 1 [ Homo sapiens (human) ]".
- ^ "F8A2 coagulation factor VIII associated 2 [ Homo sapiens (human) ]".
- ^ "F8A3 coagulation factor VIII associated 3 [ Homo sapiens (human) ]".
Further reading
- Levinson B, Kenwrick S, Gamel P, Fisher K, Gitschier J (1992). "Evidence for a third transcript from the human factor VIII gene". Genomics. 14 (3): 585–9. PMID 1427887.
- Levinson B, Bermingham JR, Metzenberg A, Kenwrick S, Chapman V, Gitschier J (1992). "Sequence of the human factor VIII-associated gene is conserved in mouse". Genomics. 13 (3): 862–5. PMID 1639415.
- Naylor JA, Buck D, Green P, Williamson H, Bentley D, Gianneill F (1996). "Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions". Hum. Mol. Genet. 4 (7): 1217–24. PMID 8528212.
- Peters MF, Ross CA (2001). "Isolation of a 40-kDa Huntingtin-associated protein". J. Biol. Chem. 276 (5): 3188–94. PMID 11035034.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.
- Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. PMID 11256614.
- Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD (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. PMID 12477932.
- Jenkins PV, Dill JL, Zhou Q, Fay PJ (2004). S2CID 32607321.
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. PMID 15489336.
- Bagnall RD, Ayres KL, Green PM, Giannelli F (2005). "Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A". Genome Res. 15 (2): 214–23. PMID 15687285.
- Mehrle A, Rosenfelder H, Schupp I, Del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. PMID 16381901.
- Brown V, Brown RA, Ozinsky A, Hesselberth JR, Fields S (2006). "Binding specificity of Toll-like receptor cytoplasmic domains". Eur. J. Immunol. 36 (3): 742–53. PMID 16482509.
- Parker ET, Doering CB, Lollar P (2006). "A1 subunit-mediated regulation of thrombin-activated factor VIII A2 subunit dissociation". J. Biol. Chem. 281 (20): 13922–30. PMID 16513639.
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