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MGP001016

UniProt Annotations

Entry Information
Gene Namecoagulation factor XIII, A1 polypeptide
Protein EntryF13A_HUMAN
UniProt IDP00488
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityProtein glutamine + alkylamine = protein N(5)- alkylglutamine + NH(3). {ECO:0000255|PROSITE-ProRule:PRU10024}.
CofactorName=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 1 Ca(2+) ion per subunit.;
DiseaseFactor XIII subunit A deficiency (FA13AD) [MIM:613225]: An autosomal recessive hematologic disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. {ECO:0000269|PubMed:1353995}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionFactor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl- epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin.
PolymorphismThere are four main allelic forms of this protein; F13A*1A, F13A*1B, F13A*2A and F13A*2B. In addition two other intermediate forms (F13A*(2)A and F13A*(2)B) seem to exist. The sequence shown is that of F13A*(2)B.
PtmThe activation peptide is released by thrombin.
Sequence CautionSequence=AAA52489.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92089.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the transglutaminase superfamily. Transglutaminase family. {ECO:0000305}.
Subcellular LocationCytoplasm. Secreted. Note=Secreted into the blood plasma. Cytoplasmic in most tissues, but also secreted in the blood plasma.
SubunitTetramer of two A chains and two B chains.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f13a1/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F13A1";
Web ResourceName=Wikipedia; Note=Factor XIII entry; URL="http://en.wikipedia.org/wiki/Factor_XIII";
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