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SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 [ Homo sapiens (human) ]

Gene ID: 462, updated on 19-Jul-2014
Official Symbol
SERPINC1provided by HGNC
Official Full Name
serpin peptidase inhibitor, clade C (antithrombin), member 1provided by HGNC
Primary source
HGNC:775
Locus tag
PRO0309
See related
Ensembl:ENSG00000117601; HPRD:00122; MIM:107300; Vega:OTTHUMG00000037276
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AT3; AT3D; ATIII; THPH7
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]
See SERPINC1 in Epigenomics, MapViewer
Location:
1q25.1
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (173903800..173917378, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (173872938..173886516, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 74 Neighboring gene zinc finger and BTB domain containing 37 Neighboring gene growth arrest-specific 5 (non-protein coding) Neighboring gene ring finger and CCCH-type domains 1 Neighboring gene RNA, 5S ribosomal pseudogene 68 Neighboring gene ribosomal protein L30 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Activated granulocytes and macrophages producing hypochlorite/hypochlorous acid-altered isolated proteins antithrombin III and human serum albumin bind to gp120 and inhibit viral proliferation PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Common Pathway, organism-specific biosystem (from REACTOME)
    Common Pathway, organism-specific biosystemThe common pathway consists of the cascade of activation events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the f...
  • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
    Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
    Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
  • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
    Glypican 1 network, organism-specific biosystem
    Glypican 1 network
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC22579

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparin binding IEA
Inferred from Electronic Annotation
more info
 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of blood coagulation, intrinsic pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
antithrombin-III
Names
antithrombin-III
serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012462.1 

    Range
    5001..18575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000488.3NP_000479.1  antithrombin-III precursor

    See proteins identical to NP_000479.1

    Status: REVIEWED

    Source sequence(s)
    AL136170, H62671, H71210
    Consensus CDS
    CCDS1313.1
    UniProtKB/Swiss-Prot
    P01008
    Related
    ENSP00000356671, OTTHUMP00000035393, ENST00000367698, OTTHUMT00000090734
    Conserved Domains (1) summary
    cd02045
    Location:79458
    Blast Score: 1819
    antithrombin-III_like; Antithrombin is a serine proteinase inhibitor (serpin) which controls the process of coagulation. It is the most important anticoagulant molecule in mammalian circulation systems, controlled by its interaction with the co-factor, heparin, which ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    173903800..173917378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245198.2XP_005245255.1  

    Conserved Domains (1) summary
    cl00137
    Location:31410
    Blast Score: 1798
    SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    145098064..145111634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    175295382..175308956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)