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FLASH GENE
Symbol C3 contributors: mct - updated : 03-11-2007
HGNC name complement component 3
HGNC id 1318
Corresponding disease
C3D complement component 3 deficiency
Location 19p13.3-p13.2      Physical location : 6.677.846 - 6.720.662
Synonym name
  • acylation-stimulating protein cleavage product
  • C3a anaphylatoxin
  • Synonym symbol(s) ASP, CPAMD1, ARMD9
    EC.number 3.4.21.43
    DNA
    TYPE like-sequence
    STRUCTURE 42.00 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
    Physical map
    BGR 19p13.3 bubblegum related protein LOC388497 19 LOC388497 MLLT1 19p13.3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 ASAH3 19p13.3 N-acylsphingosine amidohydrolase (alkaline ceramidase) 3 CLPP 19p13.2 ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli) SPATA11 19p13.3 spermatogenesis associated 11 PSPN 19p13.3 persephin GTF2F1 19p13.3 general transcription factor IIF, polypeptide 1, 74kDa LOC390877 19 similar to adenylate kinase (EC 2.7.4.3), cytosolic - common carp KHSRP 19p13.3 KH-type splicing regulatory protein (FUSE binding protein 2) MGC34725 19p13.3 hypothetical protein MGC34725 MGC2615 19p13.3 hypothetical protein MGC2615 CRB3 19p13.3 crumbs homolog 3 (Drosophila) FLJ22757 TUBB5 19p13.3 tubulin, beta, 5 TNFSF9 19p13.3 tumor necrosis factor (ligand) superfamily, member 9 TNFSF7 19p13 tumor necrosis factor (ligand) superfamily, member 7 LOC390878 19 similar to 60S ribosomal protein L7 TNFSF14 19p13.3 tumor necrosis factor (ligand) superfamily, member 14 C3 19p13.3 complement component 3 GPR108 19p13.3 G protein-coupled receptor 108 TRIP10 19p13.3 thyroid hormone receptor interactor 10 SH2D3A 19p13.3 SH2 domain containing 3A VAV1 19p13.3 vav 1 oncogene EMR1 19p13.3 egf-like module containing, mucin-like, hormone receptor-like sequence 1 EMR4 19p13.3 egf-like module containing, mucin-like, hormone receptor-like 4 LOC284428 19p13.3 similar to methyl-CpG binding domain protein 3-like 2 MBD3L2 19p13.3 methyl-CpG binding domain protein 3-like 2 LOC388498 19 similar to methyl-CpG binding domain protein 3-like 2 MGC4054 19p13.3 hypothetical protein MGC4054 INSR 19p13.3-p13.2 insulin receptor
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - - - - - Fong
  • 28 kb and contains 26 exons, including exon 16 to 41, anaphylatoxin
  • - - - - - - Fong
  • C3 beta chain spans 13 kb from exon 1 to exon 16, opsonin
  • EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     mouthtongue   
    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
    Lymphoid/Immunemacrophage
    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
  • 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
  • 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
    Susceptibility to age-related macular degeneration (ARMD9)
    Variant & Polymorphism other R102G polymorphism increases risk of age-related macular degeneration
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS