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FLASH GENE
Symbol CA4 contributors: - updated : 22-01-2007
HGNC name carbonic anhydrase IV
HGNC id 1375
Corresponding disease
RP17 retinitis pigmentosa 17
Location 17q23      Physical location : 58.227.301 - 58.236.904
Synonym name
  • carbonic anhydrase 4
  • retinitis pigmentosa 17 (autosomal dominant)
    • Synonym symbol(s) CAIV, Car4, RP17
    EC.number 4.2.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 9.00 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselcapillary   
    Respiratorylung    
    Urinarykidneytubuleconvoluted tubuleproximal tubule 
    Visualeyeuveachoroid  
     eyelens   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal sequence
  • a conserved catalytic domain containing three histidine residues
  • a C terminal hydrophobic segment
    • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to rattus ca4 (70 pc)
    Homologene
    FAMILY alpha-carbonic anhydrase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    text anchored to membrane by a glycosyl-phosphatidylinositol linkage
    basic FUNCTION
  • glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary, chorionic (and certain other) capillaries and of proximal renal tubules
  • reversibly hydrating CO2 in cellular ion transport and pH homeostasis
  • plays a critical role by maintaining the pH in the outer retina, which is important for the normal function of photoreceptors
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS homeostasis
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • a functional complex of carbonic anhydrase 4 (CA4) and Na+/bicarbonate co-transporter 1 (SLC4A4) is specifically expressed in the choriocapillaris
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein
  • interaction with SLC4A4 at the inner surface of the plasma membrane, indicating that SLC4A4/CA4 interaction is needed for full pH(i) recovery activity
    • cell & other
    REGULATION
    inhibited by acetazolamide
    ASSOCIATED DISORDERS
    corresponding disease(s) RP17
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS