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FLASH GENE
Symbol CA8 contributors: mct/npt - updated : 25-05-2016
HGNC name carbonic anhydrase VIII
HGNC id 1382
Corresponding disease
CHQL3 cerebellar hypoplasia and quadrupedal locomotion 3
Location 8q12.2      Physical location : 61.101.422 - 61.193.954
Synonym name
  • carbonic anhydrase related protein
  • CA-related protein
  • Synonym symbol(s) CALS, CARP, CA-VIII, MGC120502, MGC99509, CAR8, CA-RP, CAMRQ3
    EC.number 4.2.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 94.05 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2278 32.9 290 - 2007 17219437
    - - 3922 - 290 - 2007 17219437
    - - 3972 - 263 - 2007 17219437
    - - 5654 - 258 - 2007 17219437
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell Homo sapiens
    Visualbipolar cell Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text in the neuroprogenitor cells in the subventricular zone as early as the 84th day of gestation and subsequently detected in the neural cells migrating to the cortex
    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