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FLASH GENE
Symbol CACNA1D contributors: mct - updated : 26-08-2013
HGNC name calcium channel, voltage-dependent, L type, alpha 1D subunit
HGNC id 1391
Corresponding disease
PASNA primary aldosteronism, seizures, and neurologic abnormalities
SANDD sinoatrial node dysfunction and deafness
Location 3p21.1      Physical location : 53.529.030 - 53.846.491
Synonym name
  • voltage-gated calcium channel alpha subunit Cav1.3
  • calcium channel, L type, alpha-1 polypeptide, isoform 2
    • calcium channel, neuroendocrine/brain-type, alpha 1 subunit
    Function Submit GeneRIF
    Synonym symbol(s) CACNL1A2, CCHL1A2, CAV1.3, CACH3, CACN4, SANDO
    DNA
    TYPE functioning gene
    STRUCTURE 317.46 kb     48 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - ATP2B2 - ZNF64 ,CACNA1D - ACY1 - cen
    Authors Seuanez (97)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    49 splicing 7771 247 2181 - 2011 21131953
  • Cav1.3L
    • 48 splicing 7711 241 2161 - 2011 21131953
    46 - 7639 - 2137 - 2011 21131953
  • Cav1.342A
    • 42 - - - - expressed at high levels in the brain but not in the heart 2011 21998310
  • lacks the DCRD and therefore a functional C-terminal modulator
  • use of an alternative 3prime splice acceptor site in exon 43 yields a C-terminal truncated Cav1.3 splice variant
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartconducting system  highly Homo sapiens
    Endocrineadrenal gland     Homo sapiens
    Lymphoid/Immunespleen    
    Nervousbrain     Homo sapiens
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Nervousneuron Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four domains of homology, each with six alpha helical membrane spanning segments
  • 24 TM domains
  • intramolecular interaction between a distal (DCRD) and a proximal regulatory domain (PCRD) within the C terminus
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY calcium channel alpha 1 subunits family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text integral membrane protein
    basic FUNCTION
  • calcium voltage-gated channel (VDCC), L type,
    • pore forming, dihydropyridine (DHP) sensitive
  • playing an essential role for normal cochlear inner hair cell development and synaptic transmission
  • plays significant roles in the automaticity of the AV node
  • tightly control Ca2+-dependent glutamate release at cochlear inner hair cell (IHC) ribbon synapses and is essential for hearing
  • CACNA1D channels activate rapidly and at voltages within the operating range of IHCs
  • crucial retrocochlear role of CACNA1D
  • crucial role for the development of central auditory centers
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component complexing with beta and gamma subunits
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+ transport
    protein
  • linked to macromolecular signaling complex formed by SHANK1 and other modular adaptor proteins at postsynaptic density and provide novel information about the role played by CACNA1D in pCREB signaling
  • interacting with RIMS2 (contributes to the stabilization of CACNA1D gating kinetics in immature cochlear inner hair cell)
  • physical and functional interaction between CACNA1D and GABBR2, suggesting the potential pivotal roles of CACNA1D in the CNS
  • multifaceted presynaptic role of USH1C in cochlear inner hair cells (IHCs) in regulating CACNA1D channels and exocytosis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SANDD , PASNA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation     gain of function
    in aldosterone-producing adenomas (APAs)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ca(v)1.3 null mutant mice show evidence of AV node dysfunction with AV block, suggesting the tissue-specific function of the Ca(v)1.3 channel