Sequence in raw or FASTA format:
Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.
| RefSeq Version | NM_000131.3, 116805320 |
| Length | 3141 bp |
| Structure | linear |
| Update Date | 17-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA. |
| Product | coagulation factor VII isoform a precursor |
| Comment | Summary: This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Alternative splicing of this gene results in 2 transcripts. Defects in this gene can cause coagulopathy. [provided by RefSeq]. Transcript Variant: This variant (1) contains an optional exon (exon 1b) and thus encodes a longer signal peptide than the predominant transcript variant 2. The mature peptide products encoded by the two transcript variants are identical. |
| RefSeq | NP_000122.1 |
| CDS | 52..1452 | Exon (1) | 1..115 | Exon (2) | 1..115 | Exon (3) | 116..181 | Exon (4) | 182..342 | Exon (5) | 343..367 | Exon (6) | 368..481 | Exon (7) | 482..622 | Exon (8) | 623..732 | Exon (9) | 733..856 | Exon (10) | 857..3125 |
| Translation | MVSQALRLLCLLLGLQGCLAAGGVAKASGGETRDMPWKPGPHRVFVTQEEAHGVLHRRRR
ANAFLEELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGS
CKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSL
LADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGG
TLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTN
HDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVL
NVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTG
IVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP
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| Title | [An inherited coagulation factor VII deficiency pedigree caused by homozygous mutation of His348Gln] . |
| Author | Jin,Y.H., Wang,M.S., Niu,Z.Z., Xie,Y.S., Xie,H.X. and Yang,L.H. |
| Journal | Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28 (1), 10-13 (2011) |
| Title | Worldwide diffusion of FVII Arg304Gln coagulation defect (FVII Padua) . |
| Author | Girolami,A., Berti de Marinis,G., Bonamigo,E. and Allemand,E. |
| Journal | Eur. J. Haematol. 86 (2), 135-139 (2011) |
| Title | Impact of pharmacokinetic (CYP2C9) and pharmacodynamic (VKORC1, F7, GGCX, CALU, EPHX1) gene variants on the initiation and maintenance phases of phenprocoumon therapy . |
| Author | Luxembourg,B., Schneider,K., Sittinger,K., Toennes,S.W., Seifried,E., Lindhoff-Last,E., Oldenburg,J. and Geisen,C. |
| Journal | Thromb. Haemost. 105 (1), 169-180 (2011) |
| Title | Plasma factor VII: a potential marker of pre-eclampsia . |
| Author | Dusse,L.M., Carvalho,M.G., Cooper,A.J. and Lwaleed,B.A. |
| Journal | Thromb. Res. 127 (1), E15-E19 (2011) |
| Title | Ox brain versus rabbit brain thromboplastin assays are the best tool for a preliminary diagnosis of the Arg304Gln factor VII defect (FVII Padua) . |
| Author | Girolami,A., Berti de Marinis,G., Bonamigo,E., Sartori,R. and Vettore,S. |
| Journal | Acta Haematol. 124 (4), 229-234 (2010) |
| Title | Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7) . |
| Author | Marchetti,G., Patracchini,P., Gemmati,D., DeRosa,V., Pinotti,M., Rodorigo,G., Casonato,A., Girolami,A. and Bernardi,F. |
| Journal | Hum. Genet. 89 (5), 497-502 (1992) |
| Title | Purification and characterization of factor VII 304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male . |
| Author | O'Brien,D.P., Gale,K.M., Anderson,J.S., McVey,J.H., Miller,G.J., Meade,T.W. and Tuddenham,E.G. |
| Journal | Blood 78 (1), 132-140 (1991) |
| Title | Human plasma and recombinant factor VII. Characterization of O-glycosylations at serine residues 52 and 60 and effects of site-directed mutagenesis of serine 52 to alanine . |
| Author | Bjoern,S., Foster,D.C., Thim,L., Wiberg,F.C., Christensen,M., Komiyama,Y., Pedersen,A.H. and Kisiel,W. |
| Journal | J. Biol. Chem. 266 (17), 11051-11057 (1991) |
| Title | Proteolytic activation of human factors IX and X by recombinant human factor VIIa: effects of calcium, phospholipids, and tissue factor . |
| Author | Komiyama,Y., Pedersen,A.H. and Kisiel,W. |
| Journal | Biochemistry 29 (40), 9418-9425 (1990) |
| Title | A new trisaccharide sugar chain linked to a serine residue in the first EGF-like domain of clotting factors VII and IX and protein Z . |
| Author | Iwanaga,S., Nishimura,H., Kawabata,S., Kisiel,W., Hase,S. and Ikenaka,T. |
| Journal | Adv. Exp. Med. Biol. 281, 121-131 (1990) |
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