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FLASH GENE
Symbol CA8 contributors: mct/npt - updated : 25-05-2016
HGNC name carbonic anhydrase VIII
HGNC id 1382
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated MetalloP
HOMOLOGY
interspecies ortholog to murine Carp
homolog to murine Cals1
Homologene
FAMILY
  • eukariotic-type anhydrase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text in Purkinje cells with ITPR1
    basic FUNCTION
  • carbonic anhydrase VIII, putatively involved in nerve function
  • reversibly hydrating Co2 in cellular ion transport and pH homeostasis
  • playing roles in various biological process of the CNS
  • playing a role in the growth of colon cancer cells
  • autoantigen involved in the pathogenesis of melanoma-associated paraneoplastic cerebellar degeneration
  • is selectively expressed within neural circuits, and may be important for modulating retinal neurotransmission
  • specific role of CA8 to protect cells from stresses 3)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • ITPR1-binding protein (binding site located within the modulatory domain of ITPR1 amino acids 1387-1647)
  • CA8 is a novel important regulator of Purkinje cell dendritic development and that its expression is controlled by PRKCG activity
  • CA8 is an allosteric inhibitor of ITPR1, which regulates intracellular calcium release fundamental to critical cellular functions including neuronal excitability, neurite outgrowth, neurotransmitter release
  • CA8 is a novel important regulator of Purkinje cell dendritic development and that its expression is controlled by PRKCG activity
  • might facilitate cancer cell invasion via the activation of PTK2-MMP9 signaling
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHQL3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal carcinoma
    tumoral     --over  
    of CA8 in human osteosarcoma cells significantly increased cell proliferation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneouspain 
    CA8 and ITPR1 represent new therapeutic targets for chronic pain
    ANIMAL & CELL MODELS