SERPINC1

Gene Information
 
Gene Symbol
SERPINC1
 
Aliases
AT3, AT3D, ATIII, THPH7
 
Entrez Gene ID
462
 
Gene Name
Serpin peptidase inhibitor, clade C (antithrombin), member 1
 
Chromosomal Location
1q25.1
 
HGNC ID
775
 
Summary
The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. (provided by RefSeq, Jul 2009)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0005615 Cellular component Extracellular space IDA 1695900
GO:0002020 Molecular function Protease binding IPI 15853774
GO:0004867 Molecular function Serine-type endopeptidase inhibitor activity NAS 12878203
GO:0005515 Molecular function Protein binding IPI 12878203
Protein Information
 
Protein Name
Serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1, serpin peptidase inhibitor clade C member 1
 
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
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00079 Serpin Serpin (serine protease inhibitor)
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Insulin resistance 16779985
Polycystic ovary syndrome (PCOS) 19253106
   
References
 
Primary:

Thrombin activatable fibrinolysis inhibitor and other hemostatic parameters in patients with polycystic ovary syndrome.

Oral Baha, Mermi Betul, Dilek Mufide, Alanoglu Guchan, Sutcu Recep
Department of Obstetrics and Gynecology, School of Medicine, Suleyman Demirel University, Isparta, Turkey. baha@med.sdu.edu.tr
Gynecol Endocrinol. 2009 Feb;25(2):110-6. doi: 10.1080/09513590802549874.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
TAFI, PAI-1,fibrinogen,thrombomodulin 
 
 
 
Related 
 
This study showed that plasma levels of TAFI, PAI-1, D-dimer, AT III and thrombomodulin were significantly increased in women with PCOS compared with age- and BMI-matched controls. 

 

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