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

    Gene ID: 462, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:775
    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. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
    Expression
    Restricted expression toward liver (RPKM 926.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See SERPINC1 in Genome Data Viewer
    Location:
    1q25.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (173903800..173917327, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (173261916..173275453, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (173872938..173886465, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:173837597-173838796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2118 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 BRD4-independent group 4 enhancer GRCh37_chr1:173863193-173864392 Neighboring gene uncharacterized LOC124904457 Neighboring gene RNA, 5S ribosomal pseudogene 67 Neighboring gene ring finger and CCCH-type domains 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:173915901-173917100 Neighboring gene RNA, 5S ribosomal pseudogene 68

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Assignment of the human antithrombin III structural gene to chromosome 1q23-25. Bock SC, et al. Cytogenet Cell Genet, 1985. PMID 3979120
    2. Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy. Castaldo G, et al. Thromb Haemost, 2012 Apr. PMID 22398878
    3. Serum antithrombin III level is well correlated with multiple indicators for assessment of liver function and diagnostic accuracy for predicting postoperative liver failure in hepatocellular carcinoma patients. Mizuguchi T, et al. Hepatogastroenterology, 2012 Mar-Apr. PMID 22353523
    4. Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency. de la Morena-Barrio ME, et al. Thromb Haemost, 2012 Mar. PMID 22234719
    5. Identification of two de novo mutations responsible for type I antithrombin deficiency. Orlando C, et al. Thromb Haemost, 2012 Jan. PMID 22116592

    See all (300) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect.
      Title: Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect.
    2. A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease.
      Title: A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease.
    3. [Phenotypic and genetic analysis of a Chinese pedigree affected with Hereditary antithrombin deficiency due to a novel variant of SERPINC1 gene].
      Title: [Phenotypic and genetic analysis of a Chinese pedigree affected with Hereditary antithrombin deficiency due to a novel variant of SERPINC1 gene].
    4. Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia.
      Title: Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia.
    5. Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.
      Title: Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.
    6. Antithrombin Deficiency: Frequency in Patients with Thrombosis and Thrombophilic Families.
      Title: Antithrombin Deficiency: Frequency in Patients with Thrombosis and Thrombophilic Families.
    7. Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin deficiency.
      Title: Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin deficiency.
    8. Native and activated antithrombin inhibits TMPRSS2 activity and SARS-CoV-2 infection.
      Title: Native and activated antithrombin inhibits TMPRSS2 activity and SARS-CoV-2 infection.
    9. [Case report of pulmonary embolism after balloon pulmonary angioplasty triggered by decreased antithrombin activity in a patient with chronic thromboembolic disease].
      Title: [Case report of pulmonary embolism after balloon pulmonary angioplasty triggered by decreased antithrombin â…˘ activity in a patient with chronic thromboembolic disease].
    10. Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
      Title: Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
    Submit: New GeneRIF Correction See all GeneRIFs (156)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary antithrombin deficiency
    MedGen: C0272375 OMIM: 613118 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC22579

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase inhibitor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of blood coagulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    antithrombin-III
    Names
    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)

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    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_000488.4 → NP_000479.1  antithrombin-III isoform 1 precursor

      See identical proteins and their annotated locations for NP_000479.1

      Status: REVIEWED

      Source sequence(s)
      AL136170
      Consensus CDS
      CCDS1313.1
      UniProtKB/Swiss-Prot
      B2R6P0, P01008, P78439, P78447, Q13815, Q5TC78, Q7KZ43, Q7KZ97, Q9UC78
      UniProtKB/TrEMBL
      A0A0K0Q2Z1
      Related
      ENSP00000356671.3, ENST00000367698.4
      Conserved Domains (1) summary
      cd02045
      Location:79 → 458
      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_001365052.2 → NP_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
      UniProtKB/TrEMBL
      A0A0K0Q2Z1
      Conserved Domains (1) summary
      cl00137
      Location:31 → 410
      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 ...

    3. NM_001386302.1 → NP_001373231.1  antithrombin-III isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AL136170
      UniProtKB/TrEMBL
      A0A0K0Q2Z1, A0A2S0BDD1
      Conserved Domains (1) summary
      cd02045
      Location:70 → 504
      serpinC1_AT3; serpin family C member 1, antithrombin III

    4. NM_001386303.1 → NP_001373232.1  antithrombin-III isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL136170
      UniProtKB/TrEMBL
      A0A0K0Q2Z1
      Conserved Domains (1) summary
      cd02045
      Location:97 → 490
      serpinC1_AT3; serpin family C member 1, antithrombin III

    5. NM_001386304.1 → NP_001373233.1  antithrombin-III isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AL136170
      UniProtKB/TrEMBL
      A0A0K0Q2Z1
      Conserved Domains (1) summary
      cd02045
      Location:70 → 456
      serpinC1_AT3; serpin family C member 1, antithrombin III

    6. NM_001386305.1 → NP_001373234.1  antithrombin-III isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AL136170
      UniProtKB/TrEMBL
      A0A0K0Q2Z1
      Conserved Domains (1) summary
      cd02045
      Location:70 → 444
      serpinC1_AT3; serpin family C member 1, antithrombin III

    7. NM_001386306.1 → NP_001373235.1  antithrombin-III isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AL136170
      UniProtKB/TrEMBL
      A0A0K0Q2Z1
      Conserved Domains (1) summary
      cl38926
      Location:70 → 391
      serpin; SERine Proteinase INhibitors (serpin) family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      173903800..173917327 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      173261916..173275453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01008.1 GenPept UniProtKB/Swiss-Prot:P01008

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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