InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SERPINC1

Summary

InnateDB Protein

IDBP-104921.6

Last Modified

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

Gene Symbol

SERPINC1

Protein Name

serpin peptidase inhibitor, clade C (antithrombin), member 1

Synonyms

AT3; AT3D; ATIII; THPH7;

Species

Homo sapiens

Ensembl Protein

ENSP00000356671

InnateDB Gene

IDBG-104917 (SERPINC1)

Protein Structure

UniProt Annotation

Function

Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin. {ECO:0000269PubMed:15853774}.

Subcellular Localization

Secreted, extracellular space.

Disease Associations

Antithrombin III deficiency (AT3D) [MIM:613118]: An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations. {ECO:0000269PubMed:10997988, ECO:0000269PubMed:11713457, ECO:0000269PubMed:11794707, ECO:0000269PubMed:12353073, ECO:0000269PubMed:12595305, ECO:0000269PubMed:12894857, ECO:0000269PubMed:15164384, ECO:0000269PubMed:1547341, ECO:0000269PubMed:1555650, ECO:0000269PubMed:16908819, ECO:0000269PubMed:1906811, ECO:0000269PubMed:2229057, ECO:0000269PubMed:2365065, ECO:0000269PubMed:2781509, ECO:0000269PubMed:3080419, ECO:0000269PubMed:3162733, ECO:0000269PubMed:3179438, ECO:0000269PubMed:3191114, ECO:0000269PubMed:3805013, ECO:0000269PubMed:6582486, ECO:0000269PubMed:7734359, ECO:0000269PubMed:7832187, ECO:0000269PubMed:7878627, ECO:0000269PubMed:7959685, ECO:0000269PubMed:7981186, ECO:0000269PubMed:7989582, ECO:0000269PubMed:7994035, ECO:0000269PubMed:8274732, ECO:0000269PubMed:8443391, ECO:0000269PubMed:8486379, ECO:0000269PubMed:9031473, ECO:0000269PubMed:9157604, ECO:0000269PubMed:9759613, ECO:0000269PubMed:9845533, ECO:0000269Ref.3, ECO:0000269Ref.53}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in plasma.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	6 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
GO:0004867	serine-type endopeptidase inhibitor activity
GO:0005515	protein binding
GO:0008201	heparin binding

Biological Process

GO:0007584	response to nutrient
GO:0007596	blood coagulation
GO:0010951	negative regulation of endopeptidase activity
GO:0030162	regulation of proteolysis
GO:0050728	negative regulation of inflammatory response
GO:2000266	regulation of blood coagulation, intrinsic pathway

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle