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FLASH GENE
Symbol SERPINC1 contributors: mct/np - updated : 26-03-2010
HGNC name serpin peptidase inhibitor, clade C (antithrombin), member 1
HGNC id 775
Corresponding disease
AT3 antithrombin III deficiency
Location 1q25.1      Physical location : 173.872.942 - 173.886.516
Synonym name
  • heparin cofactor 1
  • antithrombin III
  • serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
  • coding sequence signal peptide antithrombin part 1
    • Synonym symbol(s) HCF1, AT3, MGC22579
    DNA
    TYPE functioning gene
    STRUCTURE 13.53 kb     7 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1599 52 464 - Picard (2010)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Lymphoid/Immunespleen    
    Visualeyeanterior segmentcornea  
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an heparin binding site
  • a reactive site
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY serpin family
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • high molecular weight proteinase inhibitor of blood coagulation, thrombin, F9, F10, F11, F12
  • accelerator of the dissociation of FVIIA complex with tissue factor and preventing its rebinding
  • directly acts on platelets and suppresses ADP-induced platelet granule secretion due to inhibiting HSP27 phosphorylation via MAPK3 and MAPK14 (Doi 2010)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FII
  • FIXa
  • Fxa
  • FXIIa
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AT3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS