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FLASH GENE
Symbol CACNA1F contributors: shn/npt - updated : 26-05-2016
HGNC name calcium channel, voltage-dependent, L type, alpha 1F subunit
HGNC id 1393
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina   
cells
SystemCellPubmedSpeciesStageRna symbol
Visualamacrine cell
Visualbipolar cell
Visualcone photoreceptor Homo sapiens
Visualganglion cell
Visualhorizontal association cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 24 transmembrane segments
  • six alpha helical membrane spanning segments (24 transmembrane segments)
  • an IQ motif
  • an inhibitor of Ca2+ dependent inactivation (ICDI) in the C-terminal tail
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Cacna1f, Rattus norvegicus
    ortholog to Cacna1f, Mus musculus
    ortholog to CACNA1F, Pan troglodytes
    ortholog to cacna1f, Danio rerio
    Homologene
    FAMILY
  • calcium channel alpha-1 subunit family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • calcium voltage-gated channel (VDCC), L (long lasting) type, dihydropyridine (DHP) sensitive
  • mediating the entry of calcium ions into excitable cells and involved in several calcium dependent processes (muscle contraction, cell mobility)
  • implicated in retinal signal transduction and in synaptic transmission from photoreceptor to second-order retinal neurons
  • constitutes the major molecular correlate of retinal L-type Ca(2+) current (Baumann et al, 2000)
  • vital for the functional assembly and/or maintenance and synaptic functions of photoreceptor ribbon synapses (Mansergh et al, 2005)
  • functions in controlling naive T cell homeostasis and antigen-driven T cell immune responses
  • CACNA1F channel is important for maintaining scaffolding proteins in the ribbon synapse but less vital for proteins related to vesicular release
  • maintains a continuous or tonic calcium-dependent neurotransmitter release from the photoreceptors
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text ion transport
    PATHWAY
    metabolism
    signaling neurotransmission , signal transduction , sensory transduction/vision
    synaptic transmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • calcium binding protein 4, CABP4 (Haeseleer et al, 2004)
  • Calmodulin, CaM (Griessmeier et al, 2009)
  • CABP4 dramatically increases CACNA1F channel availability
  • CABP4 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
    Other
  • functionally regulated by Calmodulin (Griessmeier et al, 2009)
    • ASSOCIATED DISORDERS
    corresponding disease(s) CSNB2A , CORDX3 , AIED
    related resource L-Type Calcium Channel Mutations
    Retinal Information Network
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
    a patient with a deletion of a cytosine at position 4548 in exon 39, resulting in a frameshift and a truncated protein at position 1524, with a loss a 450 residues at the C terminus
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mouse with a loss-of-function mutation of Cacna1f gene has neither Cone ERG nor visual evoked potentials responses and has profound loss of photoreceptor synapses, and abnormal dendritic sprouting of second-order neurons in the photoreceptor layer (Mansergh et al, 2005)
  • in mice lacking Cav 1.4 channels, there are defects in the development of "ribbon" synapses formed between photoreceptors (PRs) and second-order neurons
  • Cacna1f-knockout mice show an apparent lack of visual function, gradual retinal degeneration, and disruption of photoreceptor synaptic terminals