MGP Database

MGP001015

Record overview

MGPD IDMGP001015
Gene ID2161
SpeciesHomo sapiens (Human)
Gene Namecoagulation factor XII (Hageman factor)
Gene Symbol F12
SynonymsHAF; HAE3; HAEX;
Alternate namescoagulation factor XII; Hageman factor; beta-factor XIIa part 1; beta-factor XIIa part 2; coagulation factor XIIa heavy chain; coagulation factor XIIa light chain;
Chromosome5
Map Location5q35.3
EC Number3.4.21.38
SummaryThis gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for F12

Proteins

coagulation factor XII precursor
Refseq ID:NP_000496
Protein GI:145275213
UniProt ID:P00748
mRNA ID:NM_000505
Length:615
RefSeq Status:
MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSK
HSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHC
PVGYTGAFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQ
AAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGS
LIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLC
QVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYT
DVAYYLAWIREHTVS
 
sig_peptide: 1..19
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2077
peptide sequence: 
MRALLLLGFLLVSLESTLS

mat_peptide: 20..372
product: alpha-factor XIIa heavy chain
calculated_mol_wt: 39647
peptide sequence: 
IPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHC
LCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGAFCDVDTKASCYD
GRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQ
PAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTR mat_peptide: 354..362 product: beta-factor XIIa light chain calculated_mol_wt: 931 peptide sequence: NGPLSCGQR mat_peptide: 373..615 product: alpha-factor XIIa light chain note: Note: this peptide is termed alpha-factor XIIa light chain when bound to the N-terminal 352 alpha heavy; chain. The N-terminal alpha heavy chain is further; processed to release the 9 amino acid beta light chain which also binds to the C terminal peptide. In this configuration the C terminal peptide is then termed the beta-factor XIIa heavy chain calculated_mol_wt: 26105 peptide sequence: VVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDAD
GSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQ
AAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVS
 
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