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FLASH GENE
Symbol CACNA1B contributors: mct - updated : 03-01-2017
HGNC name calcium channel, voltage-dependent, L type, alpha 1B subunit
HGNC id 1389
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four transmembrane (4TM) domains of homology, each made of six alpha helical membrane spanning segments
  • a C terminal CAG repeat, with multifunctional domain that regulates the overall activity of N-type calcium channels in nociceptors
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text
  • localize to presynaptic nerve terminals of nociceptors where they control neurotransmitter release
  • basic FUNCTION
  • voltage dependent Ca(2+) channel, omega conotoxin sensitive,calcium channel, controling the release of neurotransmitters from neurons
  • CACNA1B cluster is an integral element of a multimolecular vesicle-fusion module that forms the core of a multifunctional transmitter release sites
  • localized at nerve terminals where they play a critical role in neurotransmission
  • play a key role in the gating of transmitter release at presynaptic terminals
  • CACNA1A, CACNA1B, preferentially accumulate at neuromuscular junctions (NMJs) active zones and play essential role in synaptic transmission in conjunction with the active zone protein BSN
  • novel role for SUMO modification in DPYSL2/CACNA1B signaling pathway
  • had a disproportionately reduced contribution to synaptic transmission at frequencies >20 Hz
  • CACNA1B channels regulate transmitter release at inhibitory and excitatory synapses
  • play key roles in neurons and neuroendocrine cells including the control of cellular excitability, neurotransmitter / hormone secretion, and gene expression
  • pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel CACNA1B/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period
  • key role of CACNA1B in normal human neurodevelopment
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component complexing with beta and gamma subunits
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • its presynaptic surface localization is mediated through its interaction with light chain 2 (LC2) of microtubule-associated protein MAP1A
  • NOVA2 controls alternative splicing in CACNA1A and CACNA1B
  • functional interactions between STX1A and CACNA1B calcium channels are critical for fast neurotransmitter release in the mammalian brain
  • GHSR-mediated inhibition of CACNA1A, CACNA1B attenuates GABA release in hypothalamic neurons, a mechanism that could contribute to neuronal activation through the disinhibition of postsynaptic neurons
  • DMXL2 has the propensity to regulate calcium entry mediated by CACNA1B channels
  • cell & other
    REGULATION
    Other regulation of biophysical properties of CACNA1B by CACNG2, not exerted by direct modulation of the channel but via a Gbetagamma-dependent mechanism
    ASSOCIATED DISORDERS
    corresponding disease(s) DYT23 , NEDNEH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS