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FLASH GENE
Symbol SERPING1 contributors: mct - updated : 29-11-2017
HGNC name serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)
HGNC id 1228
Corresponding disease
HAE1 angioedema, hereditary, types I & II
Location 11q12.1      Physical location : 57.365.026 - 57.382.326
Synonym name
  • C1 esterase inhibitor
  • C1-inhibiting factor
  • complement component 1 inhibitor
  • Peptide Inhibitor of Complement C1
    • Synonym symbol(s) C1-INH, C1IN, PIC1, C1INH, C1NH, HAE1, HAE2
    DNA
    TYPE functioning gene
    STRUCTURE 17.30 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1832 - 500 - 2017 28135312
    8 - 1984 - 500 - 2017 28135312
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
     stomach    
    Gustatory (taste)tongue    
    Lymphoid/Immunespleen    
    Reproductivefemale systemplacenta   
    Visualeyeretina    Homo sapiens
     eyeuveachoroid   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 22 AA signal peptide
  • C-terminal domain of SERPING1(iC1INH), lacking of serpin function, induces a conformational change in the molecule, and has an anti-vascular permeability independent on the serpin function
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to chimpanzee LOC461302
    Homologene
    FAMILY serpin family
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
    text secreted
    basic FUNCTION
  • complement component 1
  • serine protease inhibitor
  • novel role for SERPING1 in inhibition of vascular endothelial activation
  • is present in the retina and choroid, where it may regulate complement activation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • serpin, C1-esterase inhibitor (SERPING1), is the only known plasma inhibitor of C1s, the initiating serine protease of the classical pathway of complement
  • inhibits the peroxidase activity of MPO in CF (cystic fibrosis) sputum likely via an antioxidant mechanism
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HAE1
    Susceptibility to age-related macular degeneration (AMD) and to polypoidal choroidal vasculopathy (PCV)
    Variant & Polymorphism SNP
  • SNP rs2511989 was not significantly associated with all forms of AMD, neovascular AMD, or PCV in East Asians but was associated with AMD in Caucasians
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS