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FLASH GENE
Symbol C3 contributors: mct - updated : 12-10-2021
HGNC name complement component 3
HGNC id 1318
DNA
TYPE like-sequence
STRUCTURE 42.95 kb     41 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site   transcription factor
text structure
  • several putative binding sites for transcription factors were found in the 5' flanking region, suggesting possible pathways for the regulation of the C3 gene
  • MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - - - - - 2004 15550543
  • 28 kb and contains 26 exons, including exon 16 to 41, anaphylatoxin
  • 41 - 5231 - 1663 - 2004 15550543
  • C3b
  • C3 beta chain spans 13 kb from exon 1 to exon 16, opsonin
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiens
    Endocrinepancreas     Homo sapiens
    Reproductivefemale systemovary  highly
     female systembreastmammary gland highly
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectiveadipose  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Lymphoid/Immunemacrophage Homo sapiens
    not specificadipocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two short consensus repeats, sushi structure (see F13B, SRCP1)
  • an anaphylatoxin-like domain
  • a NTR domain
  • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine C3
    Homologene
    FAMILY
    CATEGORY enzyme , immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • playing a central role in the activation of the complement system
  • activation is required for both classical and alternative complement activation pathways
  • may play a role in the macrovascular, as well as microvascular, complications of diabetes
  • role of complement C3 in metabolic, atherosclerotic/atherothrombotic and microangiopathic processes
  • C3 impacts likely the activity of small GTPases resulting in cell cycle defects and premature neuronal differentiation
  • intracellular function for C3, connecting the complement system directly to autophagy, with a broad potential importance in other diseases and cell types
  • age-related changes in renal structure occur earlier than functional changes and that complement C3 is involved in aging-related kidney disorder
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense , inflammation
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • C3a, anaphylatoxin, mediator of local inflammation process
  • two chains, beta and alpha, linked by a disulfide bond
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding factor B
  • C3 exerts neuroprotective effects against excitotoxic damage induced by NMDA
  • CFHR1 competes with complement factor H-like protein 1 (CFH) for binding to C3b
  • C3 interacts with ATG16L1, which is essential for autophagy
  • C3 binds fibrinogen and compromises fibrin clot lysis thereby enhancing thrombosis risk
  • cell & other
  • C3b cell surface dependent amplification of C3 cleavage
  • REGULATION
    activated by classical or alternative pathway
    inhibited by or inactivated by factor H or factor I
    Other active C3b,Bb stabilized by properdin
    ASSOCIATED DISORDERS
    corresponding disease(s) C3D
    related resource C3base - Mutation registry for C3 deficiency
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in C3 glomerulopathy
    constitutional        
    mitigates the phagocytosis of photoreceptors by macrophages in the outer retina
    Susceptibility
  • to age-related macular degeneration (ARMD9)
  • to cardiometabolic diseases
  • Variant & Polymorphism other
  • R102G polymorphism increases risk of age-related macular degeneration
  • specific C3 polymorphisms have been shown to predict future cardiovascular events
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    bloodcoagulation 
    C3 binds fibrinogen beta-chain and disruption of fibrinogen-C3 interactionenhances fibrinolysis, which represents a potential novel target tool to reduce thrombosis in high risk individuals
    ANIMAL & CELL MODELS