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MGP001010

UniProt Annotations

Entry Information
Gene Namecoagulation factor VII (serum prothrombin conversion accelerator)
Protein EntryFA7_HUMAN
UniProt IDP08709
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=A; IsoId=P08709-1; Sequence=Displayed; Name=B; IsoId=P08709-2; Sequence=VSP_005387;
Catalytic ActivitySelective cleavage of Arg-|-Ile bond in factor X to form factor Xa.
DiseaseFactor VII deficiency (FA7D) [MIM:227500]: A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels. {ECO:0000269|PubMed:10862079, ECO:0000269|PubMed:11091194, ECO:0000269|PubMed:11129332, ECO:0000269|PubMed:12472587, ECO:0000269|PubMed:14717781, ECO:0000269|PubMed:1634227, ECO:0000269|PubMed:18976247, ECO:0000269|PubMed:19432927, ECO:0000269|PubMed:19751712, ECO:0000269|PubMed:2070047, ECO:0000269|PubMed:21206266, ECO:0000269|PubMed:21372693, ECO:0000269|PubMed:7974346, ECO:0000269|PubMed:7981691, ECO:0000269|PubMed:8043443, ECO:0000269|PubMed:8204879, ECO:0000269|PubMed:8364544, ECO:0000269|PubMed:8652821, ECO:0000269|PubMed:8844208, ECO:0000269|PubMed:8883260, ECO:0000269|PubMed:8940045, ECO:0000269|PubMed:9414278, ECO:0000269|PubMed:9452082, ECO:0000269|PubMed:9576180}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInitiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium.
InteractionP13726:F3; NbExp=6; IntAct=EBI-355972, EBI-1040727;
PharmaceuticalAvailable under the names Niastase or Novoseven (Novo Nordisk). Used for the treatment of bleeding episodes in hemophilia A or B patients with antibodies to coagulation factors VIII or IX.
PtmCan be either O-glucosylated or O-xylosylated at Ser-112 by POGLUT1 in vitro.
PtmO- and N-glycosylated. N-glycosylation at Asn-205 occurs cotranslationally and is mediated by STT3A-containing complexes, while glycosylation at Asn-382 is post-translational and is mediated STT3B-containing complexes before folding. O-fucosylated by POFUT1 on a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. {ECO:0000269|PubMed:1904059, ECO:0000269|PubMed:19167329, ECO:0000269|PubMed:21949356, ECO:0000269|PubMed:3264725, ECO:0000269|PubMed:9023546}.
PtmThe iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. {ECO:0000269|PubMed:3264725}.
PtmThe vitamin K-dependent, enzymatic carboxylation of some glutamate residues allows the modified protein to bind calcium.
SimilarityBelongs to the peptidase S1 family. {ECO:0000255|PROSITE-ProRule:PRU00274}.
SimilarityContains 1 Gla (gamma-carboxy-glutamate) domain. {ECO:0000255|PROSITE-ProRule:PRU00463}.
SimilarityContains 1 peptidase S1 domain. {ECO:0000255|PROSITE- ProRule:PRU00274}.
SimilarityContains 2 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
Subcellular LocationSecreted.
SubunitHeterodimer of a light chain and a heavy chain linked by a disulfide bond. {ECO:0000269|PubMed:8598903, ECO:0000269|PubMed:9925787}.
Tissue SpecificityPlasma.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f7/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F7";
Web ResourceName=Wikipedia; Note=Factor VII entry; URL="http://en.wikipedia.org/wiki/Factor_VII";
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