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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
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