F8A1

F8A1
Identifiers
AliasesF8A1, DXS522E, F8A, HAP40, coagulation factor VIII-associated 1, coagulation factor VIII associated 1
External IDsMGI: 95474 HomoloGene: 128316 GeneCards: F8A1
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq28Start154,886,349 bp[1]
End154,888,061 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

8263

14070

Ensembl

ENSG00000277203

ENSMUSG00000078317

UniProt

P23610

Q9JJQ6

RefSeq (mRNA)

NM_012151

NM_007978

RefSeq (protein)

NP_036283

NP_032004

Location (UCSC)Chr X: 154.89 – 154.89 MbChr X: 73.23 – 73.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Factor VIII intron 22 protein is a protein that in humans is encoded by the F8A1 gene.[5][6]

This gene 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 F8A, is repeated twice extragenically closer to the Xq telomere. 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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000277203 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000078317 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. 1 2 "Entrez Gene: F8A1 coagulation factor VIII-associated (intronic transcript) 1".

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.
  • 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, 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. PMC 1083732. 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. 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.
  • 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.
  • 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. 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, et al. (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, et al. (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.


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