F8A1

Intronski protein faktora VIII je protein koji je kod ljudi kodiran genom F8A1.^[5][6]

F8A1
Identifikatori
Aliasi	F8A1
Vanjski ID-jevi	OMIM: 305423 MGI: 95474 HomoloGene: 128316 GeneCards: F8A1
Lokacija gena (čovjek) Hrom. Hromosom X[1] Bend Xq28 Početak 154,886,355 bp[1] Kraj 154,888,061 bp[1]
Lokacija gena (miš) Hrom. Hromosom X (miš)[2] Bend X A7.3|X 37.29 cM Početak 72,271,897 bp[2] Kraj 72,274,401 bp[2]
Ontologija gena Molekularna funkcija • molecular function • GO:0001948 protein binding Ćelijska komponenta • Jedro Biološki proces • biološki proces Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	8263	14070
Ensembl	ENSG00000288722	ENSMUSG00000078317
UniProt	P23610	Q9JJQ6
RefSeq (mRNK)	NM_012151	NM_007978
RefSeq (bjelančevina)	NP_001007524 NP_001007525 NP_036283	NP_032004
Lokacija (UCSC)	Chr X: 154.89 – 154.89 Mb	Chr X: 72.27 – 72.27 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Ovaj gen je u potpunosti sadržan u introna 22 faktora VIII; obuhvata manje od 2 kb i transkribira se u smjeru suprotnom od faktora VIII. Dio introna 22 (int22h), koji sadrži F8A, ponavlja se dva puta ekstragenski bliže telomeri Xq. Iako je njegova funkcija nepoznata, opažanje da je ovaj gen konzerviran u miša, implicira da ima neku funkciju. Za razliku od faktora VIII, ovaj gen se obilno transkribira u najrazličitijim tipovima.^[6]

Reference

1. GRCh38: Ensembl release 89: ENSG00000288722 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000078317 - Ensembl, maj 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. "Entrez Gene: F8A1 coagulation factor VIII-associated (intronic transcript) 1".

Dopunska literatura

• 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.