Homo sapiens Gene: SERPINC1
Summary
InnateDB Gene IDBG-104917.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SERPINC1
Gene Name serpin peptidase inhibitor, clade C (antithrombin), member 1
Synonyms AT3; AT3D; ATIII; THPH7
Species Homo sapiens
Ensembl Gene ENSG00000117601
Encoded Proteins
serpin peptidase inhibitor, clade C (antithrombin), member 1
serpin peptidase inhibitor, clade C (antithrombin), member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:173903804-173917378
Strand Reverse strand
Band q25.1
Transcripts
ENST00000367698 ENSP00000356671
ENST00000487183
ENST00000494024
ENST00000617423 ENSP00000478688
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Intrinsic Pathway pathway
Common Pathway pathway
Formation of Fibrin Clot (Clotting Cascade) pathway
Hemostasis pathway
KEGG
Complement and coagulation cascades pathway
INOH
PID NCI
Glypican 1 network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.75599
RefSeq NM_000488 XM_005245198
HUGO
OMIM
CCDS CCDS1313
HPRD 00122
IMGT
EMBL
GenPept
RNA Seq Atlas