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FLASH GENE
Symbol CABP4 contributors: mct - updated : 29-01-2019
HGNC name calcium binding protein 4
HGNC id 1386
Corresponding disease
CRSD congenital cone-rod synaptic disorder
CSNB2B blindness night congenital stationary type 2B
ENFL6 epilepsy, nocturnal frontal lobe, type 6
Location 11q13.2      Physical location : 67.222.817 - 67.229.243
Synonym symbol(s) CRSD, CSNB2B
DNA
TYPE functioning gene
STRUCTURE 9.37 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D11S1883 - D11S913 - CABP4 - D11S1889 - D11S4155 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1466 - 275 specifically expressed in rod and cone photoreceptor synapses 2016 27226626
7 - 3988 - 170 - 2016 27226626
6 - 4104 - 170 - 2016 27226626
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina  specific SELECTED Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor Homo sapiens
Visualrod photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four EF-hand calcium-binding domains
    • HOMOLOGY
    interspecies ortholog to Cabp4, Mus musculus
    ortholog to Cabp4, Rattus norvegicus
    ortholog to CABP4, Pan troglodytes
    Homologene
    FAMILY
  • calcium-binding protein (CABP) family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    text
  • presynapses from both types of photoreceptors: rod spherules and cone
    • pedicles
  • CABP4 and UNC119 colocalized in the photoreceptor synapse of adult retina and during postnatal retinal development
    • basic FUNCTION
  • involved in ciliary/flagellar motility
  • may play a role in normal synaptic function, probably through regulation of Ca(2+) influx and neurotransmitter
    • release in photoreceptor synaptic terminals
  • essential for the development and/or maintenance and function of the photoreceptor output synapse
  • critical for signal transmission from rods and cones to second-order neurons
  • role for UNC119 and CABP4 in neurotransmitter release and in the maintenance of the photoreceptor synapse
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction , sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • inositol triphosphate receptors and Cav2.1 channels1 and with Cav1.2 channels
  • CABP4 dramatically increases CACNA1F channel availability
  • CABP4 is dephosphorylated by PPP2CA in the retina
  • modulates Ca(2+)-dependent activity of L-type voltage-gated Ca(2+) channels (CACNA1F) in retinal photoreceptor cells
  • CABP4 forms a collapsed structure around the IQ motif in CACNA1F that likely may promote channel activation by disrupting an interaction between IQ and the inhibitor of Ca(2+)-dependent inactivation domain
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CSNB2B , CRSD , ENFL6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Phenotype of Cabp4(-/-) mice resembles that observed in CSNB2 patients carrying mutations in the gene CACNA1F: retinas have ectopic synapses, abnormal outer plexiform layers, responses of rod bipolars are reduced in sensitivity about 100-fold, electroretinograms indicate a reduction in cone and rod synaptic function