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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
    Physical map
    LOC390182 11 similar to Olfactory receptor 5AK2 LOC219525 11q12.1 olfactory-like receptor (PJCG3) pseudogene LOC219527 11q12.1 similar to expressed sequence AI841794 AGTRL1 11q12 angiotensin II receptor-like 1 TNKS1BP1 11q12.2 tankyrase 1 binding protein 1, 182kDa SSRP1 11q12.1-q12.2 structure specific recognition protein 1 P2RX3 11q12 purinergic receptor P2X, ligand-gated ion channel, 3 PRG3 11q12 proteoglycan 3 PRG2 11q12 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) EEG1 11q11 likely ortholog of mouse embryonic epithelial gene 1 NGRH1 SLC43A1 11p11.2-p11.1 solute carrier family 43, member 1 TIMM10 11q12.1-q12.3 translocase of inner mitochondrial membrane 10 homolog (yeast) LOC219537 11q12.1 similar to RIKEN cDNA 1110030K22 UBE2L6 11q12 ubiquitin-conjugating enzyme E2L 6 LOC390183 11 similar to ribosomal protein S4, X-linked SERPING1 11q12.1 serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) FLJ30213 11q12.1 hypothetical protein FLJ30213 HEAB 11q12 hypothetical protein FLJ30213 ZDHHC5 11q12.2 zinc finger, DHHC domain containing 5 LCMR1 11q12.1 lung cancer metastasis-related protein 1 TMX2 11cen-q22.3 thioredoxin-related transmembrane protein 2 SELH 11q12.1 selenoprotein H CTNND1 11q11 catenin (cadherin-associated protein), delta 1 LOC390184 11 similar to seven transmembrane helix receptor LOC283193 11q12.1 similar to seven transmembrane helix receptor HCP26 11q12.1 cytochrome c, somatic pseudogene LOC219952 11q12.1 similar to Olfactory receptor 6Q1 LOC387771 11 LOC387771
    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