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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
Corresponding disease
AIED Aland Island eye disease
CORDX3 cone-rod dystrophy 3
CSNB2A blindness night congenital, stationary 2
Location Xp11.23      Physical location : 49.061.523 - 49.089.833
Synonym name
  • cav1.4alpha1
  • voltage- gated calcium channel subunit alpha Cav1.4
  • voltage-dependent L-type calcium channel subunit alpha-1F
  • Synonym symbol(s) Cav1.4, JM8, JMC8, CSNBX2, CSNB2A, COD4, OA2 JM8, AIED, COD3, CORDX, CORDX3, VGCC
    DNA
    TYPE functioning gene
    STRUCTURE 28.34 kb     48 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - DXS1055 - DXS1003 - CACNA1F - DXS1208 - DXS1039 - cen
    Physical map
    TIMM17B Xp11.23 translocase of inner mitochondrial membrane 17 homolog B (yeast) PQBP1 Xp11.3 polyglutamine binding protein 1 SLC35A2 Xp11.23-p11.22 solute carrier family 35 (UDP-galactose transporter), member A2 PIM2 Xp11.3-p11.2 pim-2 oncogene DKFZp761A052 Xp11.23 hypothetical protein DKFZp761A052 KCND1 Xp11.23 potassium voltage-gated channel, Shal-related subfamily, member 1 GRIPAP1 Xp11 GRIP1 associated protein 1 TFE3 Xp11.23-p11.22 transcription factor binding to IGHM enhancer 3 JM11 Xp11.23 JM11 protein JM4 Xp11.23 JM11 protein JM5 Xp11.23 JM5 protein T54 Xp11.23 T54 protein FLJ21687 Xp11.23 PDZ domain containing, X chromosome PLP2 Xp11.23 proteolipid protein 2 (colonic epithelium-enriched) LMO6 Xp11.23-p11.22 LIM domain only 6 SYP Xp11.23-p11.22 synaptophysin CACNA1F Xp11.23 calcium channel, voltage-dependent, alpha 1F subunit LOC347348 Xp11.23 similar to Heat shock 27 kDa protein (HSP 27) (Stress-responsive protein 27) (SRP27) (Estrogen-regulated 24 kDa protein) (28 kDa heat shock protein) JM1 Xp11.23 JM1 protein FOXP3 Xp11.23 forkhead box P3 PPP1R3F Xp11.23 protein phosphatase 1, regulatory (inhibitor) subunit 3F LOC286408 Xp11.23 hypothetical LOC286408 LOC389855 X similar to G antigen 7
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    48 - 6080 - 1977 - 2012 22069316
    48 - 6037 - 1966 - 2012 22069316
    48 - 5875 - 1912 - 2012 22069316
    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