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SERPINC1 Gene

protein-coding   GIFtS: 69
GCID: GC01M173872

Serpin Peptidase Inhibitor, Clade C (Antithrombin), Member...

(Previous names: serine (or cysteine) proteinase inhibitor, clade C (antithrombin),...)
(Previous symbol: AT3)
  See SERPINC1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Serpin Peptidase Inhibitor, Clade C (Antithrombin), Member 11 2     Antithrombin (Aa 375-432)1
AT31 2 3 5     Antithrombin III1
Serine (Or Cysteine) Proteinase Inhibitor, Clade C (Antithrombin), Member
11 2
     Coding Sequence Signal Peptide Antithrombin Part 11
ATIII2 3     Signal Peptide Antithrombin Part 11
AT3D2 5     antithrombin-III2
THPH72 5     Serpin C13

External Ids:    HGNC: 7751   Entrez Gene: 4622   Ensembl: ENSG000001176017   OMIM: 1073005   UniProtKB: P010083   

Export aliases for SERPINC1 gene to outside databases

Previous GC identifers: GC01M171412 GC01M169301 GC01M170453 GC01M171112 GC01M170604 GC01M172139 GC01M145098


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SERPINC1 Gene:
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)

GeneCards Summary for SERPINC1 Gene:
SERPINC1 (serpin peptidase inhibitor, clade C (antithrombin), member 1) is a protein-coding gene. Diseases associated with SERPINC1 include coronary thrombosis, and congenital antithrombin deficiency. GO annotations related to this gene include heparin binding and protease binding. An important paralog of this gene is SERPINB7.

UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008
Function: Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III
inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly
enhanced in the presence of heparin

Gene Wiki entry for SERPINC1 (Antithrombin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SERPINC1 gene promoter:
         N-Myc   PPAR-alpha   Egr-1   HTF   CUTL1   Evi-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERPINC1 promoter sequence
   Search Chromatin IP Primers for SERPINC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SERPINC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25.1   Ensembl cytogenetic band:  1q25.1   HGNC cytogenetic band: 1q25.1

SERPINC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINC1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M173872:  view genomic region     (about GC identifiers)

Start:
173,872,942 bp from pter      End:
173,886,516 bp from pter
Size:
13,575 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008 (See protein sequence)
Recommended Name: Antithrombin-III precursor  
Size: 464 amino acids; 52602 Da
Subunit: Forms protease inhibiting heterodimer with TMPRSS7
Mass spectrometry: Mass=57863; Method=Electrospray; Range=33-464; Source=PubMed:7734359;
Mass spectrometry: Mass=57911; Method=Electrospray; Range=33-464; Note=Variant Thr-414; Source=PubMed:7734359;
Selected PDB 3D structures from and Proteopedia for SERPINC1 (see all 27):
1ANT (3D)        1ATH (3D)        1AZX (3D)        1BR8 (3D)        1DZG (3D)        1DZH (3D)    
Secondary accessions: B2R6P0 P78439 P78447 Q13815 Q5TC78 Q7KZ43 Q7KZ97 Q9UC78

Explore the universe of human proteins at neXtProt for SERPINC1: NX_P01008

Explore proteomics data for SERPINC1 at MOPED

Post-translational modifications: 

  • Phosphorylation sites are present in the extracellular medium1
  • Glycosylation2 at Asn128, Asn167, Asn187, Asn224
  • Modification sites at PhosphoSitePlus

  • See SERPINC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000479.1  
    ENSEMBL proteins: 
     ENSP00000356671  
    Reactome Protein details: P01008

    SERPINC1 Human Recombinant Protein Products:

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    Sino Biological Cell Lysate for SERPINC1
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    SERPINC1 Antibody Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for SERPINC1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SERPIN: Serine (or cysteine) peptidase inhibitors

    4 InterPro protein domains:
     IPR023795 Serpin_CS
     IPR015555 AT-III
     IPR000215 Serpin_fam
     IPR023796 Serpin_dom

    Graphical View of Domain Structure for InterPro Entry P01008

    ProtoNet protein and cluster: P01008

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008
    Similarity: Belongs to the serpin family


    Find genes that share domains with SERPINC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANT3_HUMAN, P01008
    Function: Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III
    inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly
    enhanced in the presence of heparin

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI15853774
    GO:0004867serine-type endopeptidase inhibitor activity NAS12878203
    GO:0005515protein binding IPI12878203
    GO:0008201heparin binding IEA--
         
    Find genes that share ontologies with SERPINC1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SERPINC1:
     Decreased circadian period len 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Serpinc1):
     cardiovascular system  embryogenesis  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  nervous system  pigmentation  renal/urinary system 
     reproductive system  vision/eye 

    Find genes that share phenotypes with SERPINC1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Serpinc1tm1Sai for SERPINC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERPINC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SERPINC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPINC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERPINC1

    miRNA
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    GenScript: all cDNA clones in your preferred vector: SERPINC1 (NM_000488)
    Sino Biological Human cDNA Clone for SERPINC1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINC1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ANT3_HUMAN, P01008: Secreted, extracellular space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    cytoskeleton2
    cytosol2
    nucleus2
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA1695900
    GO:0005886plasma membrane TAS--
    GO:0072562blood microparticle IDA--

    Find genes that share ontologies with SERPINC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SERPINC1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Common Pathway0.00
    Blood Coagulation Signaling Pathways0.51
    Extrinsic Prothrombin Activation Pathway0.00
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    3Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38
    4Hemostasis
    Hemostasis0.43
    5Selected targets of C EBPalpha
    Selected targets of C EBPalpha


    Find genes that share SuperPaths with SERPINC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for SERPINC1
        Blood Coagulation Signaling Pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SERPINC1
        Extrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    2 BioSystems Pathways for SERPINC1
        Complement and Coagulation Cascades
    Glypican 1 network


    1 Reactome Pathway for SERPINC1
        Common Pathway


    1 Kegg Pathway  (Kegg details for SERPINC1):
        Complement and coagulation cascades

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SERPINC1: 
              HIV Host Response in human mouse rat
              Angiogenic Growth Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SERPINC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for SERPINC1 (P010083 ENSP000003566714) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    F2P007343, ENSP000003085414I2D: score=3 STRING: ENSP00000308541
    PLCG1P191743, ENSP000002440074I2D: score=2 STRING: ENSP00000244007
    PLGP007473, ENSP000003089384I2D: score=1 STRING: ENSP00000308938
    SDC2P347413, ENSP000003070464I2D: score=1 STRING: ENSP00000307046
    KLK6Q928763, ENSP000003091484I2D: score=1 STRING: ENSP00000309148
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007584response to nutrient IEA--
    GO:0007596blood coagulation TAS--
    GO:0010951negative regulation of endopeptidase activity IBA--
    GO:0030162regulation of proteolysis IBA--
    GO:0050728negative regulation of inflammatory response IEA--

    Find genes that share ontologies with SERPINC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SERPINC1 (ANT3)

    1 HMDB Compound for SERPINC1    About this table
    CompoundSynonyms CAS #PubMed Ids
    HeparinArteven (see all 17)9005-49-6--

    10 DrugBank Compounds for SERPINC1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HeparinAlpha-Heparin (see all 8)9005-49-6targetpotentiator17600786 19818773 11278930 20816747 10201371 11752352 17201083
    Fondaparinux sodium-- 114870-03-0targetpotentiator12501872 15317404 12383040 12383039
    Ardeparin-- --targetpotentiator7632944 12397367 11287128
    EnoxaparinLMWH (see all 2)9005-49-6targetpotentiator19888521 16207425 17489664
    Sulodexide-- 57821-29-1targetpotentiator12818259 9436179 11752352
    Tinzaparin-- 9041-08-1targetpotentiator15567452 19888521 15767980
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423
    DalteparinDaltepariininatrium (see all 13)9041-08-1targetpotentiator8707165 11044537
    Nadroparin-- 9041-08-1targetpotentiator9108990 8707165
    N-Formylmethionine-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for SERPINC1 gene (see all 118)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparin 94.1 2623 8180343 (9), 20079161 (9), 8788110 (9), 2237824 (8) (see all 99)
    fibrinogen 93.5 1299 9746270 (5), 8545565 (5), 18728028 (5), 16444428 (4) (see all 99)
    heparin pentasaccharide 90.5 49 9242619 (3), 12353073 (2), 9541411 (2), 10433728 (1) (see all 33)
    hirudin 86.9 152 8706141 (3), 18827975 (3), 18772359 (3), 12361208 (2) (see all 99)
    fondaparinux 83.2 76 19690236 (6), 12383040 (4), 15317404 (2), 12871328 (2) (see all 51)
    argatroban 83.1 103 12897104 (5), 18636042 (4), 9528269 (4), 9288875 (3) (see all 59)
    bivalirudin 77 30 12812377 (2), 17560876 (2), 15320792 (1), 18452778 (1) (see all 24)
    ximelagatran 72 11 15320792 (1), 18506123 (1), 18393143 (1), 14760212 (1) (see all 10)
    hirugen 70.8 8 8706141 (2), 7781782 (1), 14512086 (1), 10457984 (1) (see all 6)
    dermatan sulfate 68.7 40 7833476 (3), 2226466 (2), 15533757 (2), 1554154 (1) (see all 27)

    1 PharmGKB related drug/compound annotation for SERPINC1 gene    About this table
    Drug/compound PharmGKB Annotation
    eltrombopag



    Find genes that share compounds with SERPINC1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SERPINC1 gene: 
    NM_000488.3  

    Unigene Cluster for SERPINC1:

    Serpin peptidase inhibitor, clade C (antithrombin), member 1
    Hs.75599  [show with all ESTs]
    Unigene Representative Sequence: AF130100
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367698(uc001gjt.3) ENST00000487183 ENST00000494024
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SERPINC1
      QuantiFast Probe-based Assays in human, mouse, rat SERPINC1

    Additional mRNA sequence: 

    AF130100.1 AK312654.1 BC022309.1 D29832.1 

    9 DOTS entries:

    DT.417074  DT.95152449  DT.91754456  DT.100815145  DT.91754464  DT.95226132  DT.100815146  DT.91754455 
    DT.121424933 

    Selected AceView cDNA sequences (see all 60):

    AV654825 AV646887 AV661445 AV656549 AL532135 AV691715 AV658713 BG567126 
    BC022309 AV647404 AV682951 AV661758 AV647437 BG567450 BG617043 AV686233 
    AV647313 AV653713 AV695001 AV655960 BG564842 AV684449 AV648634 AV657158 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINC1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9
    SP1:                    -     -     -                                                               
    SP2:                    -     -     -                             -     -     -     -               
    SP3:                    -                                                                           
    SP4:                    -     -                                                                     
    SP5:                                -                                                               


    ECgene alternative splicing isoforms for SERPINC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SERPINC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCAGAGTAG
    SERPINC1 Expression
    About this image


    SERPINC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Hepatocyte-like cells
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced embryoid bodies
     
     Lung (Respiratory System)
    SERPINC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75599

    UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008
    Tissue specificity: Found in plasma

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SERPINC1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpinc11 , 5 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), more1, 5 85.6(n)1
    87.69(a)1
      1 (69.75 cM)5
    119051  NM_080844.41  NP_543120.11 
     1609786065 
    chicken
    (Gallus gallus)
    Aves SERPINC11 serpin peptidase inhibitor, clade C (antithrombin), more 70.25(n)
    69.57(a)
      424440  XM_422282.4  XP_422282.3 
    lizard
    (Anolis carolinensis)
    Reptilia SERPINC16
    serpin peptidase inhibitor, clade C (antithrombin)...
    61(a)
    1 ↔ 1
    4(71428264-71441485)
    African clawed frog
    (Xenopus laevis)
    Amphibia serpinc1-prov2 serine (or cysteine) proteinase inhibitor, clade C more 75.85(n)    BC041211.1 
    zebrafish
    (Danio rerio)
    Actinopterygii serpinc12 serine (or cysteine) proteinase inhibitor, clade C more 76.12(n)   321545  AF515272.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG94603 serpin 30(a)
    (best of 2)
      42D4   --
    rice
    (Oryza sativa)
    Liliopsida Os01g07654001 Os01g0765400 46.26(n)
    32.72(a)
      4326898  NM_001050885.1  NP_001044350.1 


    ENSEMBL Gene Tree for SERPINC1 (if available)
    TreeFam Gene Tree for SERPINC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SERPINC1 gene
    SERPINB72  SERPINB12  SERPINI12  SERPINB52  SERPINB122  SERPINI22  SERPINB22  SERPINB102  
    SERPINB32  SERPINB42  SERPINE22  SERPINB62  SERPINB92  SERPINE12  SERPINB112  SERPINE32  
    SERPINB132  SERPINB82  
    Selected SIMAP similar genes for SERPINC1 using alignment to 2 protein entries:     ANT3_HUMAN (see all proteins) (see all similar genes):
    AT3    SERPINB1    SERPINB3    SERPINB7    SERPINB8    SERPINB11
    SCCA2    SERPINB4    SERPINB6    SERPINE1    SERPINI1    SERPINB10
    SERPINB13    SERPINA3    SERPINA6    SERPINB9    SERPINI2    SERPINE2

    Find genes that share paralogs with SERPINC1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SERPINC1 (see all 438)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219095541,2,,4
    CAntithrombin III deficiency (AT3D)4 pathogenic1180426134(-) CTGGCC/TGTTCG 2 R C mis10--------
    rs1219095481,2,,4
    C,FAntithrombin III deficiency (AT3D)4 pathogenic1180426161(-) CAGCTC/G/TCAAGT 3 P A S mis11NA 4550
    rs1472662001,2,,4
    CAntithrombin III deficiency (AT3D)4 --180436819(+) AAAGCA/GGGAAT 2 R C mis10--------
    rs1219095521,2,,4
    CAntithrombin III deficiency (AT3D)4 pathogenic1180436848(-) CCGGCG/ATGTCT 2 /H /R mis11Minor allele frequency- A:0.00NA 4552
    rs1219095511,2,,4
    C,FAntithrombin III deficiency (AT3D)4 pathogenic1180436866(-) GATCCC/TGGAGG 2 P L mis12Minor allele frequency- T:0.00NA EU 5875
    rs289294691,2,,4
    CAntithrombin III deficiency (AT3D)4 pathogenic1180436918(-) TTTACC/TGCTCC 2 R C mis1 ese30--------
    VAR_0274574
    Antithrombin III deficiency (AT3D)4--see VAR_0274572 C Y mis40--------
    VAR_0070544
    Antithrombin III deficiency (AT3D)4--see VAR_0070542 R Q mis40--------
    VAR_0274544
    Antithrombin III deficiency (AT3D)4--see VAR_0274542 M K mis40--------
    VAR_0070644
    Antithrombin III deficiency (AT3D)4--see VAR_0070642 I N mis40--------

    HapMap Linkage Disequilibrium report for SERPINC1 (173872942 - 173886516 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SERPINC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831926CNV Gain+Loss17160897
    dgv149e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): SERPINC1
    Locus Specific Mutation Databases (LSDB): SERPINC1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 107300   
    OMIM disorders: 613118  
    UniProtKB/Swiss-Prot: ANT3_HUMAN, P01008
  • Antithrombin III deficiency (AT3D) [MIM:613118]: An important risk factor for hereditary thrombophilia, a
    hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is
    classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has
    defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III
    antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable
    mutations. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SERPINC1 (see all 59):    
    About MalaCards
    coronary thrombosis    congenital antithrombin deficiency    portal vein thrombosis    antithrombin iii deficiency
    hereditary antithrombin deficiency    sagittal sinus thrombosis    congenital antithrombin deficiency type 3    disseminated intravascular coagulation
    suppurative otitis media    testicular infarct    branch retinal artery occlusion    mitral valve stenosis
    protein s deficiency    spinal cord infarction    congenital disorder of glycosylation type 1a    retinal artery occlusion
    sneddon syndrome    acquired angioedema    thromboembolism    venous thromboembolism

    Selected diseases from the University of Copenhagen DISEASES database for SERPINC1 (see all 21):
    Thrombophilia     Antithrombin III deficiency     Vascular disease     Protein C deficiency
    Blood protein disease     Thrombocytopenia     Myocardial infarction     Antiphospholipid syndrome
    Brain disease     Hyperhomocysteinemia     Intermediate coronary syndrome     Liver disease
    Kidney disease     Coronary heart disease     Placental abruption     Cancer
    Respiratory failure     Mitral valve stenosis     Diabetes mellitus     Lupus erythematosus

    Find genes that share disorders with SERPINC1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SERPINC1 gene (see all 98)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    antithrombin iii deficiency 96.3 273 12897104 (4), 18926244 (3), 10987006 (3), 8291376 (3) (see all 99)
    thrombophilia 93.9 219 10625206 (3), 9630308 (2), 17107615 (2), 18760065 (2) (see all 99)
    protein s deficiency 92.1 154 15706484 (3), 9746774 (3), 9003158 (2), 11486107 (2) (see all 99)
    apc resistance 91.9 181 16422365 (2), 8834124 (2), 9865798 (2), 10195932 (2) (see all 99)
    thrombosis 89.2 346 12888870 (5), 8148939 (4), 18575842 (4), 9764672 (3) (see all 99)
    protein c deficiency 89.1 87 2363123 (2), 17244921 (2), 12542252 (2), 9158617 (2) (see all 80)
    disseminated intravascular coagulation 88.2 123 8572009 (3), 8813091 (3), 9662467 (2), 9577159 (2) (see all 89)
    thromboembolism 86.9 128 19132194 (4), 19514602 (3), 10515862 (3), 11127851 (2) (see all 94)
    venous thrombosis 86.5 148 1696577 (4), 12542252 (3), 9479609 (3), 12492585 (2) (see all 99)
    coagulopathy 82.2 53 7514043 (3), 1638825 (1), 8419725 (1), 9008760 (1) (see all 45)

    Genetic Association Database (GAD): SERPINC1
    Human Genome Epidemiology (HuGE) Navigator: SERPINC1 (20 documents)

    Export disorders for SERPINC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SERPINC1 gene, integrated from 10 sources (see all 2890):
    (articles sorted by number of sources associating them with SERPINC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. (PubMed id 12595305)1, 2, 4, 9 Picard V.... Aiach M. (Blood 2003)
    2. Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis. (PubMed id 8443391)1, 2, 4, 9 Okajima K.... Takatsuki K. (Blood 1993)
    3. Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine. (PubMed id 2229057)1, 2, 9 Gandrille S.... Clauser E. (J. Biol. Chem. 1990)
    4. Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. (PubMed id 7959685)1, 2, 9 Millar D.S.... Cooper D.N. (Hum. Genet. 1994)
    5. Site-directed mutagenesis of alanine-382 of human antithrombin III. (PubMed id 2013320)1, 2, 9 Austin R.C.... Blachjman M.A. (FEBS Lett. 1991)
    6. Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin. (PubMed id 7832187)1, 2, 9 Okajima K.... Takatsuki K. (Am. J. Hematol. 1995)
    7. Biological implications of a 3 A structure of dimeric antithrombin. (PubMed id 8087553)1, 2, 9 Carrell R.W.... Wardell M.R. (Structure 1994)
    8. Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation. (PubMed id 16908819)1, 2, 9 Kuhli C.... Hattenbach L.-O. (Arch. Ophthalmol. 2006)
    9. Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. (PubMed id 12353073)1, 2, 9 Mushunje A.... Carrell R.W. (Thromb. Haemost. 2002)
    10. Antithrombin Cambridge II (A384S) supports a role for antithrombin deficiency in arterial thrombosis. (PubMed id 19277409)1, 4, 9 RoldA!n V....Corral J. (Thromb. Haemost. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 462 HGNC: 775 AceView: SERPINC1 Ensembl:ENSG00000117601 euGenes: HUgn462
    ECgene: SERPINC1 Kegg: 462 H-InvDB: SERPINC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SERPINC1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Antithrombin
    Antithrombin mutation databasehttp://www1.imperial.ac.uk/medicine/about/divisions/is/haemo/coag/antithrombin/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SERPINC1[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/serpinc1/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SERPINC1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SERPINC1 gene:
    Search GeneIP for patents involving SERPINC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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