F8A1

F8A1
Identifiers
Aliases	F8A1 , DXS522E, F8A, HAP40, coagulation factor VIII-associated 1, coagulation factor VIII associated 1
External IDs	OMIM: 305423 MGI: 95474 HomoloGene: 128316 GeneCards: F8A1
Gene location (Human) Chr. X chromosome (human) [1] Band Xq28 Start 154,886,355 bp [1] End 154,888,061 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X A7.3|X 37.29 cM Start 72,271,897 bp [2] End 72,274,401 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood muscle tissue testicle brain hippocampus proper liver putamen caudate nucleus dorsolateral prefrontal cortex Top expressed in urethra ankle joint secondary oocyte neural tube islet of Langerhans pharynx lacrimal gland superior frontal gyrus proximal tubule cerebellar cortex More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function protein binding Cellular component nucleus Biological process biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8263 14070 Ensembl ENSG00000288722 ENSMUSG00000078317 UniProt P23610 Q9JJQ6 RefSeq (mRNA) NM_012151 NM_007978 RefSeq (protein) NP_001007524 NP_001007525 NP_036283 NP_032004 Location (UCSC) Chr X: 154.89 – 154.89 Mb Chr X: 72.27 – 72.27 Mb PubMed search [3] [4]
Wikidata
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 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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000288722 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000078317 - 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. Levinson B, Kenwrick S, Lakich D, Hammonds G Jr, Gitschier J (Jun 1990). "A transcribed gene in an intron of the human factor VIII gene". Genomics. 7 (1): 1–11. doi:10.1016/0888-7543(90)90512-S. PMID   2110545.
6. "F8A1 coagulation factor VIII associated 1 [ Homo sapiens (human) ]".
7. "F8A2 coagulation factor VIII associated 2 [ Homo sapiens (human) ]".
8. "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. doi:10.1016/S0888-7543(05)80155-7. 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. doi:10.1016/0888-7543(92)90170-W. 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. doi:10.1093/hmg/4.7.1217. PMID   8528212.
• Peters MF, Ross CA (2001). "Isolation of a 40-kDa Huntingtin-associated protein". J. Biol. Chem. 276 (5): 3188–94. doi: 10.1074/jbc.M008099200 . PMID   11035034.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . 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. doi:10.1093/embo-reports/kvd058. PMC   1083732 . 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Jenkins PV, Dill JL, Zhou Q, Fay PJ (2004). "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. doi:10.1111/j.1538-7933.2004.00625.x. PMID   15009463. 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. doi:10.1101/gr.2596504. PMC   528928 . 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. doi:10.1101/gr.2576704. PMC   528930 . 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. doi:10.1101/gr.2946205. PMC   546521 . 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. doi:10.1093/nar/gkj139. PMC   1347501 . 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. doi:10.1002/eji.200535158. PMC   2762736 . 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. doi: 10.1074/jbc.M513124200 . PMID   16513639.