UniProt functional annotation for P00488

UniProt code: P00488.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
 
Function: Factor 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.
 
Catalytic activity: Protein glutamine + alkylamine = protein N(5)- alkylglutamine + NH(3). {ECO:0000255|PROSITE-ProRule:PRU10024}.
Cofactor: Binds 1 calcium ion per subunit.
Subunit: Tetramer of two A chains and two B chains.
Subcellular location: Cytoplasm. Secreted. Note=Secreted into the blood plasma. Cytoplasmic in most tissues, but also secreted in the blood plasma.
Ptm: The activation peptide is released by thrombin.
Polymorphism: There 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.
Disease: Factor 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.
Similarity: Belongs to the transglutaminase superfamily. Transglutaminase family. {ECO:0000305}.
Sequence caution: Sequence=AAA52489.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92089.1; Type=Erroneous initiation; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.