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FLASH GENE
Symbol C9 contributors: mct - updated : 08-03-2008
HGNC name complement component 9
HGNC id 1358
DNA
TYPE functioning gene
STRUCTURE 79.00 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
motif repetitive sequence   other
text structure four SNP and three polyadenylation signal
MAPPING cloned Y linked Y status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2094 - 559 - Kabut (2007)
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a perforin domain
  • a LDL receptor domain class A
  • one thrombospondin type I and one EGF-like domain
  • HOMOLOGY
    intraspecies homolog to perforin,highly
    Homologene
    FAMILY complement C6/C7/C8/C9 family
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • forming with other components of the membrane attack complex a large and stable transmembrane channel leading to accelerated lysis of target cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
  • component with C5b, C6, C7, C8 of the late complement complex forming the membrane attack complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein bindingto C8A (role of the N-terminal modules in the C8 alpha subunit)
    cell & other
  • cell surface
  • REGULATION
    activated by cleaved by thrombin
    inhibited by CD59
    ASSOCIATED DISORDERS
    corresponding disease(s) C9
    related resource C9base - Mutation registry for C9 deficiency
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS