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SERPINC1 serpin family C member 1 [ Homo sapiens (human) ]

Gene ID: 462, updated on 13-Mar-2020

Summary

Official Symbol
SERPINC1provided by HGNC
Official Full Name
serpin family C member 1provided by HGNC
Primary source
HGNC:HGNC:775
See related
Ensembl:ENSG00000117601 MIM:107300
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; ATIII-R2; ATIII-T1; ATIII-T2
Summary
The protein encoded by this gene, antithrombin III, 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. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. [provided by RefSeq, Dec 2019]
Expression
Restricted expression toward liver (RPKM 926.4) See more
Orthologs

Genomic context

See SERPINC1 in Genome Data Viewer
Location:
1q25.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (173903519..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 75 Neighboring gene small nucleolar RNA, C/D box 74 Neighboring gene zinc finger and BTB domain containing 37 Neighboring gene growth arrest specific 5 Neighboring gene RNA, 5S ribosomal pseudogene 67 Neighboring gene ring finger and CCCH-type domains 1 Neighboring gene RNA, 5S ribosomal pseudogene 68

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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 Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22579

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
acute inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
lactation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
regulation of blood coagulation, intrinsic pathway IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
antithrombin-III
Names
antithrombin III isoform
serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
serpin peptidase inhibitor clade C member 1
serpin peptidase inhibitor, clade C (antithrombin), member 1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    5001..18575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_577

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_000479.1

    Status: REVIEWED

    Source sequence(s)
    AL136170, H62671, H71210
    Consensus CDS
    CCDS1313.1
    UniProtKB/Swiss-Prot
    P01008
    UniProtKB/TrEMBL
    A0A024R944
    Related
    ENSP00000356671.3, ENST00000367698.3
    Conserved Domains (1) summary
    cd02045
    Location:79458
    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 ...
  2. NM_001365052.1NP_001351981.1  antithrombin-III isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL136170
    Conserved Domains (1) summary
    cl00137
    Location:31410
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    173903519..173917378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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