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FLASH GENE
Symbol CACNA1H contributors: mct - updated : 08-12-2016
HGNC name calcium channel, voltage-dependent, alpha 1H subunit
HGNC id 1395
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four domains of homology, each with six alpha helical membrane spanning segments (24 transmembrane segments)
  • a transmembrane domain highly conserved
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to rattus cacna1h
    ortholog to murine Cacna1h
    Homologene
    FAMILY calcium channel alpha-1 subunit family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • calcium low voltage-activated (LVA) channel (VDCC, T (fast inactivation, small conductance) type essential for excitation-contraction coupling and pacemaker potentials in cardiac muscle cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text substrate for CaMKII
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    CA2+
    protein
  • CACNA1G, CACNA1H are substrates for EHD3-dependent protein trafficking in heart, implicating EHD3 as a key player in the regulation of atrial myocyte excitability and cardiac conduction
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ECA6
    Susceptibility to childhood absence epilepsy (see ECA4)
    Variant & Polymorphism SNP increasing the risk of childhood absence epilepsy
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneouspain 
    enhancement of CACNA1H currents in afferent neurons is mediated by deubiquitination of the channels by the deubiquitinase USP5, and disrupting USP5/CACNA1H interactions protected from inflammatory and neuropathic pain
    ANIMAL & CELL MODELS