Summary for peptidase S01.211: coagulation factor XIIa

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Human EST Mouse EST Substrates Inhibitors Pharma

 

Names
MEROPS Namecoagulation factor XIIa
Other namesF12 g.p. (Homo sapiens) (activated), Hageman factor (activated)
Domain architecture
MEROPS Classification
Classification Clan PA >> Subclan PA(S) >> Family S1 >> Subfamily A >> S01.211
Holotypecoagulation factor XIIa (Homo sapiens), Uniprot accession P00748 (peptidase unit: 373-615), MERNUM MER0000187
History Identifier created: Handbook of Proteolytic Enzymes (1998) Academic Press, London.
Activity
Catalytic typeSerine
PeplistIncluded in the Peplist with identifier PL00305
NC-IUBMBSubclass 3.4 (Peptidases) >> Sub-subclass 3.4.21 (Serine endopeptidases) >> Peptidase 3.4.21.38
EnzymologyBRENDA database
Proteolytic eventsCutDB database (5 cleavages)
Activity statushuman: active (Ratnoff, 2004)
mouse: active (by similarity to human) (Shan et al., 2003)
InhibitorsNot trapped by alpha-2-macroglobulin (Barrett 1981).
PhysiologyFirst component of intrinsic pathway of blood coagulation in mammals.
KnockoutMice with a targetted gene deletion for coagulation factor XII showed no factor XII plasma activity and had a markedly prolonged activated partial thromboplastin time (Pauer et al., 2004). Hereditary deficiency of coagulation factor XII causes the Hagemann trait (Pixley & Colman, 1993). A common form of Sotos syndrome is a "contiguous gene syndrome" incorporating deficiency of plasma coagulation factor XII (Kurotaki et al.,2005).
Pathways KEGGComplement and coagulation cascades
Other databases WIKIPEDIAhttp://en.wikipedia.org/wiki/Coagulation_factor_XIIa
Human genetics
Gene symbol Locus Megabases Ensembl Entrez gene Gene Cards OMIM
F12 5q33-qter ENSG00000131187 2161 F12 234000
Mouse genetics
Gene symbol Position Megabases Ensembl Entrez gene MGI
F12 13:B2 ENSMUSG00000021492 58992 MGI:1891012