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FLASH GENE
Symbol C8A contributors: mct/npt - updated : 11-01-2012
HGNC name complement component 8, alpha polypeptide
HGNC id 1352
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Lymphoid/Immunespleen   highly
cell lineage
cell lines
fluid/secretion plasma
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal TSP1 modules of C8A and C8B form three-stranded antiparallel domains that are similar to one another and to homologous modules found in other proteins
  • a EGF-like domain
  • a perforin domain and a LDL receptor domain, class A
  • a MACPF domain that is responsible for membrane insertion and pore formation, containing the binding site for C9, having sequence similarity between the MAC family proteins and perforin
  • C-terminal TSP1 domains, which are on the periphery of C8, have relatively poor density
    • mono polymer heteromer , trimer
    isoforms Precursor
    HOMOLOGY
    Homologene
    FAMILY
  • MAC family of proteins (membrane attack complex of complement)
  • complement C6/C7/C8/C9 family
    • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • complexing with other late components of the cascade to form the membrane attack complex
  • one of five complement proteins that assemble on bacterial membranes to form the lethal pore-like “membrane attack complex” (MAC) of complement
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
  • the principal binding site for C9 lies within the MACPF domain of C8alpha ; this site and the binding sites for C8beta and C8gamma are distinct
  • C8 is composed of three genetically distinct subunits, C8A, C8B, and C8G
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds and mediates the self-polymerization of C9 to form a pore-like structure on target cells, during MAC formation
    • cell & other
    REGULATION
    inhibited by CD59
    ASSOCIATED DISORDERS
    corresponding disease(s) C8A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS