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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
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