InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SERPING1

Summary

InnateDB Protein

IDBP-46855.6

Last Modified

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

Gene Symbol

SERPING1

Protein Name

serpin peptidase inhibitor, clade G (C1 inhibitor), member 1

Synonyms

C1IN; C1INH; C1NH; HAE1; HAE2;

Species

Homo sapiens

Ensembl Protein

ENSP00000278407

InnateDB Gene

IDBG-46853 (SERPING1)

Protein Structure

UniProt Annotation

Function

Activation of the C1 complex is under control of the C1- inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein. {ECO:0000269PubMed:8495195}.

Subcellular Localization

Secreted.

Disease Associations

Hereditary angioedema (HAE) [MIM:106100]: 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 due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional. {ECO:0000269PubMed:12773530, ECO:0000269PubMed:1363816, ECO:0000269PubMed:1451784, ECO:0000269PubMed:14635117, ECO:0000269PubMed:16409206, ECO:0000269PubMed:2118657, ECO:0000269PubMed:2296585, ECO:0000269PubMed:22994404, ECO:0000269PubMed:2365061, ECO:0000269PubMed:3178731, ECO:0000269PubMed:7814636, ECO:0000269PubMed:7883978, ECO:0000269PubMed:8172583, ECO:0000269PubMed:8529136, ECO:0000269PubMed:8755917, ECO:0000269Ref.40}. 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 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	14 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004867	serine-type endopeptidase inhibitor activity
GO:0005515	protein binding
GO:0008233	peptidase activity

Biological Process

GO:0001869	negative regulation of complement activation, lectin pathway
GO:0002576	platelet degranulation
GO:0006508	proteolysis
GO:0006958	complement activation, classical pathway
GO:0007568	aging
GO:0007596	blood coagulation
GO:0007597	blood coagulation, intrinsic pathway
GO:0008015	blood circulation
GO:0010951	negative regulation of endopeptidase activity
GO:0030168	platelet activation
GO:0030193	regulation of blood coagulation
GO:0042730	fibrinolysis
GO:0045087	innate immune response (InnateDB)
GO:0045916	negative regulation of complement activation

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0031093	platelet alpha granule lumen
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle