InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: F12

Summary

InnateDB Gene

IDBG-59932.6

Last Modified

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

Gene Symbol

F12

Gene Name

coagulation factor XII (Hageman factor)

Synonyms

HAE3; HAEX; HAF

Species

Homo sapiens

Ensembl Gene

ENSG00000131187

Encoded Proteins

IDBP-59934

coagulation factor XII (Hageman factor)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This 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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 5:177402140-177409576

Strand

Reverse strand

Band

q35.3

Transcripts

ENST00000253496	ENSP00000253496
ENST00000502854
ENST00000504406
ENST00000510358
ENST00000514943
ENST00000503736

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000021492

View Gene Order

ENSBTAG00000018872

Not yet available

Pathways

NETPATH

REACTOME

REACT_326

Intrinsic Pathway pathway

REACT_2051

Formation of Fibrin Clot (Clotting Cascade) pathway

REACT_604

Hemostasis pathway

KEGG

hsa04610

Complement and coagulation cascades pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.1321

RefSeq

NM_000505

HUGO

OMIM

CCDS

CCDS34302

HPRD

01992

IMGT

EMBL

GenPept

RNA Seq Atlas