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    Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 [ Mus musculus (house mouse) ]

    Gene ID: 11905, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Serpinc1provided by MGI
    Official Full Name
    serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1provided by MGI
    Primary source
    MGI:MGI:88095
    See related
    Ensembl:ENSMUSG00000026715 AllianceGenome:MGI:88095
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    At3; At-3; ATIII
    Summary
    Predicted to enable several functions, including heparin binding activity; identical protein binding activity; and serine-type endopeptidase inhibitor activity. Predicted to be involved in response to nutrient. Located in collagen-containing extracellular matrix. Is expressed in embryo; liver; neural tube; and notochord. Used to study antithrombin III deficiency. Human ortholog(s) of this gene implicated in antithrombin III deficiency; disseminated intravascular coagulation; intermediate coronary syndrome; thrombosis; and toxic shock syndrome. Orthologous to human SERPINC1 (serpin family C member 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver adult (RPKM 699.7), liver E18 (RPKM 396.3) and 2 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Serpinc1 in Genome Data Viewer
    Location:
    1 H2.1; 1 69.75 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (160806153..160830113)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (160978583..161002543)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23A pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr1:162836371-162836672 Neighboring gene RING CCCH (C3H) domains 1 Neighboring gene predicted gene, 57574 Neighboring gene zinc finger and BTB domain containing 37 Neighboring gene STARR-positive B cell enhancer mm9_chr1:162964993-162965294 Neighboring gene predicted gene, 26224 Neighboring gene growth arrest specific 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Antiangiogenic activity of the cleaved conformation of the serpin antithrombin. O'Reilly MS, et al. Science, 1999 Sep 17. PMID 10489375
    2. Molecular cloning and cell-free expression of mouse antithrombin III. Wu JK, et al. Thromb Haemost, 1992 Sep 7. PMID 1440494
    3. Hamster antithrombin III: purification, characterization and acute phase response. Mak P, et al. Comp Biochem Physiol B Biochem Mol Biol, 1996 Sep. PMID 8896339
    4. Impact of antithrombin deficiency in thrombogenesis: lipopolysaccharide and stress-induced thrombus formation in heterozygous antithrombin-deficient mice. Yanada M, et al. Blood, 2002 Apr 1. PMID 11895779
    5. Life-threatening thrombosis in mice with targeted Arg48-to-Cys mutation of the heparin-binding domain of antithrombin. Dewerchin M, et al. Circ Res, 2003 Nov 28. PMID 14592998

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tumor size and the number of diethylnitrosamine and carbon tetrachloride-induced liver tumors significantly increased in antithrombin (AT)-insufficient mice compared with the wild-type mice. AT insufficiency led to increased susceptibility to liver tumorigenesis by increasing hepatic inflammation.
      Title: Antithrombin Insufficiency Promotes Susceptibility to Liver Tumorigenesis.
    2. Trancriptomic analysis shows that expression of the antithrombins serpin C1 and D1 is significantly reduced in Schwann cell-deficient mice. In the absence of peripheral neuromuscular activity, neurodegeneration is completely blocked, and expression of prothrombin in muscle is markedly reduced.
      Title: Glial cells maintain synapses by inhibiting an activity-dependent retrograde protease signal.
    3. RNA interference of Serpinc1 and/or Proc allows for evaluation of the function of these genes in vivo and provides a novel, controlled mouse model for spontaneous venous thrombosis.
      Title: Acute and severe coagulopathy in adult mice following silencing of hepatic antithrombin and protein C production.
    4. Mice homozygous for the heparin-binding domain mutation R48C developed spontaneous, life-threatening thrombosis, occurring as early as the day of birth. Only 60% of the offspring reached weaning age, with further loss at different ages
      Title: Life-threatening thrombosis in mice with targeted Arg48-to-Cys mutation of the heparin-binding domain of antithrombin.
    5. in the heart, TF plays an important role in the thrombogenesis and it counterbalances AT-dependent anticoagulation; regulation of TF-procoagulant activity take place differently between the liver and the heart
      Title: Fatal thrombosis of antithrombin-deficient mice is rescued differently in the heart and liver by intercrossing with low tissue factor mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (2)  1 citation

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heparin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protease binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protease binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type endopeptidase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    involved_in response to nutrient ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    antithrombin-III
    Names
    anti-thrombin 3
    antithrombin
    serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
    serpin C1
    serpin peptidase inhibitor, clade C, 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.

    mRNA and Protein(s)

    1. NM_001379302.1 → NP_001366231.1  antithrombin-III isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC119204, AC163327
      Conserved Domains (1) summary
      cl38926
      Location:1 → 343
      serpin; SERine Proteinase INhibitors (serpin) family

    2. NM_001419956.1 → NP_001406885.1  antithrombin-III isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC119204, AC163327
      UniProtKB/Swiss-Prot
      P32261
      UniProtKB/TrEMBL
      Q543J5

    3. NM_001419957.1 → NP_001406886.1  antithrombin-III isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC119204, AC163327

    4. NM_001419958.1 → NP_001406887.1  antithrombin-III isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC119204, AC163327

    5. NM_080844.5 → NP_543120.1  antithrombin-III isoform 1 precursor

      See identical proteins and their annotated locations for NP_543120.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC119204, AC163327
      Consensus CDS
      CCDS15411.1
      UniProtKB/Swiss-Prot
      P32261
      UniProtKB/TrEMBL
      Q543J5
      Related
      ENSMUSP00000068971.6, ENSMUST00000064725.11
      Conserved Domains (1) summary
      cd02045
      Location:71 → 464
      serpinC1_AT3; serpin family C member 1, antithrombin III

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      160806153..160830113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006496626.2 → XP_006496689.1  antithrombin-III isoform X1

      See identical proteins and their annotated locations for XP_006496689.1

      UniProtKB/Swiss-Prot
      P32261
      UniProtKB/TrEMBL
      Q543J5
      Conserved Domains (1) summary
      cd02045
      Location:71 → 464
      serpinC1_AT3; serpin family C member 1, antithrombin III
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P32261.1 GenPept UniProtKB/Swiss-Prot:P32261

    Gene LinkOut

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

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