InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: F12

Summary

InnateDB Protein

IDBP-59934.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

F12

Protein Name

coagulation factor XII (Hageman factor)

Synonyms

HAE3; HAEX; HAF;

Species

Homo sapiens

Ensembl Protein

ENSP00000253496

InnateDB Gene

IDBG-59932 (F12)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:21304106}.

Subcellular Localization

Secreted.

Disease Associations

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:0000269PubMed:10361128, ECO:0000269PubMed:11776307, ECO:0000269PubMed:15205584, ECO:0000269PubMed:15617741, ECO:0000269PubMed:2510163, ECO:0000269PubMed:2882793, ECO:0000269PubMed:8049433, ECO:0000269PubMed:8528215, ECO:0000269PubMed:9354665}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hereditary angioedema 3 (HAE3) [MIM:610618]: An 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:0000269PubMed:16638441, ECO:0000269PubMed:17186468}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	11 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004252	serine-type endopeptidase activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008233	peptidase activity
GO:0051787	misfolded protein binding
GO:0070009	serine-type aminopeptidase activity

Biological Process

GO:0002353	plasma kallikrein-kinin cascade
GO:0002542	Factor XII activation
GO:0006508	proteolysis
GO:0007596	blood coagulation
GO:0007597	blood coagulation, intrinsic pathway
GO:0010756	positive regulation of plasminogen activation
GO:0016485	protein processing
GO:0016540	protein autoprocessing
GO:0030193	regulation of blood coagulation
GO:0030194	positive regulation of blood coagulation
GO:0031638	zymogen activation
GO:0042730	fibrinolysis
GO:0045087	innate immune response
GO:0051788	response to misfolded protein
GO:0051919	positive regulation of fibrinolysis

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000001 Kringle
IPR000083 Fibronectin, type I
IPR000562 Fibronectin, type II, collagen-binding
IPR000742 Epidermal growth factor-like domain
IPR001254 Peptidase S1
IPR001314 Peptidase S1A, chymotrypsin-type
IPR001881 EGF-like calcium-binding domain
IPR009003 Trypsin-like cysteine/serine peptidase domain
IPR013806 Kringle-like fold
IPR014394 Coagulation factor XIIa/hepatocyte growth factor activator

PFAM

PF00051
PF00039
PF00040
PF00008
PF00089
PF07645

PRINTS

PR00722

PIRSF

PIRSF001146

SMART

SM00130
SM00058
SM00059
SM00181
SM00020
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References