UniProt functional annotation for P00488



	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. {ECO:0000269|PubMed:27363989}.

Catalytic activity: Reaction=L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L- lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+); Xref=Rhea:RHEA:54816, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10207, Rhea:RHEA-COMP:14005, ChEBI:CHEBI:28938, ChEBI:CHEBI:29969, ChEBI:CHEBI:30011, ChEBI:CHEBI:138370; EC=2.3.2.13; Evidence={ECO:0000255|PROSITE- ProRule:PRU10024, ECO:0000269|PubMed:27363989};

Cofactor: Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000269|PubMed:9988734}; Note=Binds 1 Ca(2+) ion per subunit. {ECO:0000269|PubMed:9988734};

Subunit: Tetramer of two A chains (F13A1) and two B (F13B) chains. {ECO:0000269|PubMed:26247044, ECO:0000269|PubMed:4405643}.

Subcellular location: Cytoplasm. Secreted {ECO:0000269|PubMed:4405643}. 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. {ECO:0000305}.

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, ECO:0000269|PubMed:20179087, ECO:0000269|PubMed:24286209, ECO:0000269|PubMed:24329762, ECO:0000269|PubMed:24889649, ECO:0000269|PubMed:27363989}. Note=The disease is caused by variants 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.


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. {ECO:0000269\|PubMed:27363989}.


Catalytic activity:		Reaction=L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L- lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+); Xref=Rhea:RHEA:54816, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10207, Rhea:RHEA-COMP:14005, ChEBI:CHEBI:28938, ChEBI:CHEBI:29969, ChEBI:CHEBI:30011, ChEBI:CHEBI:138370; EC=2.3.2.13; Evidence={ECO:0000255\|PROSITE- ProRule:PRU10024, ECO:0000269\|PubMed:27363989};
Cofactor:		Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000269\|PubMed:9988734}; Note=Binds 1 Ca(2+) ion per subunit. {ECO:0000269\|PubMed:9988734};
Subunit:		Tetramer of two A chains (F13A1) and two B (F13B) chains. {ECO:0000269\|PubMed:26247044, ECO:0000269\|PubMed:4405643}.
Subcellular location:		Cytoplasm. Secreted {ECO:0000269\|PubMed:4405643}. 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; F13A1A, F13A1B, F13A2A and F13A2B. 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. {ECO:0000305}.
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, ECO:0000269\|PubMed:20179087, ECO:0000269\|PubMed:24286209, ECO:0000269\|PubMed:24329762, ECO:0000269\|PubMed:24889649, ECO:0000269\|PubMed:27363989}. Note=The disease is caused by variants 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};