F12
entrez
2161
canonical
uniprot
P00748
canonical
ensembl
ENSG00000131187
resolver
ensp
ENSP00000253496
resolver
enst
ENST00000253496
resolver
genesymbol
F12
resolver
hgnc
HGNC:3530
resolver
uniprot
P78339
resolver
uniprot
Q8IZZ5
resolver
uniprot_entry
FA12_HUMAN
resolver
uniprot_entry
Q8IZZ5_HUMAN
resolver
uniprot_sec
P78339
resolver
activity_regulation
ACTIVITY REGULATION: Activity is promoted in the presence of negatively charged surfaces. {ECO:0000269|PubMed:8427954}.
uniprot
proteins
amino_acid_sequence
MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGAFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVS
uniprot
proteins
disease_involvement
DISEASE: Factor XII deficiency (FA12D) [MIM:234000]: An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre-operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection). {ECO:0000269|PubMed:10361128, ECO:0000269|PubMed:11776307, ECO:0000269|PubMed:15205584, ECO:0000269|PubMed:15617741, ECO:0000269|PubMed:2510163, ECO:0000269|PubMed:2882793, ECO:0000269|PubMed:8049433, ECO:0000269|PubMed:8528215, ECO:0000269|PubMed:9354665}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Angioedema, hereditary, 3 (HAE3) [MIM:610618]: A hereditary angioedema occurring only in women. Hereditary angioedema is an autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in that both concentration and function of C1 esterase inhibitor are normal. Hereditary angioedema type 3 is precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). {ECO:0000269|PubMed:16638441, ECO:0000269|PubMed:17186468}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.21.38
uniprot
proteins
function
FUNCTION: Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa (PubMed:2019570, PubMed:21304106, PubMed:8427954). {ECO:0000269|PubMed:2019570, ECO:0000269|PubMed:21304106, ECO:0000269|PubMed:8427954}.
uniprot
proteins
mass_dalton
67792
uniprot
proteins
post_translational_modification
PTM: Factor XII is activated by kallikrein in alpha-factor XIIa, which is further converted by trypsin into beta-factor XIIa. Alpha-factor XIIa is composed of an NH2-terminal heavy chain, called coagulation factor XIIa heavy chain, and a COOH-terminal light chain, called coagulation factor XIIa light chain, connected by a disulfide bond. Beta-factor XIIa is composed of 2 chains linked by a disulfide bond, an N-terminal nonapeptide, called beta-factor XIIa part 1, and coagulation factor XIIa light chain, also known in this context as beta-factor XIIa part 2.; PTM: O- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to GalNAc. {ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:1544894, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:3886654}.
uniprot
proteins
protein_family
Peptidase S1 family
uniprot
proteins
pubmed
10361128
uniprot
proteins
pubmed
11776307
uniprot
proteins
pubmed
14760718
uniprot
proteins
pubmed
15205584
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
1544894
uniprot
proteins
pubmed
15617741
uniprot
proteins
pubmed
15711755
uniprot
proteins
pubmed
16169873
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16638441
uniprot
proteins
pubmed
17186468
uniprot
proteins
pubmed
17645545
uniprot
proteins
pubmed
2019570
uniprot
proteins
pubmed
21304106
uniprot
proteins
pubmed
23385745
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2510163
uniprot
proteins
pubmed
2882793
uniprot
proteins
pubmed
2888762
uniprot
proteins
pubmed
3011063
uniprot
proteins
pubmed
34502392
uniprot
proteins
pubmed
35460690
uniprot
proteins
pubmed
3754331
uniprot
proteins
pubmed
3877053
uniprot
proteins
pubmed
3886654
uniprot
proteins
pubmed
6604055
uniprot
proteins
pubmed
8049433
uniprot
proteins
pubmed
8427954
uniprot
proteins
pubmed
8528215
uniprot
proteins
pubmed
9354665
uniprot
proteins
sequence_length
615
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins