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FLASH GENE
Symbol CACNB1 contributors: mct - updated : 23-12-2011
HGNC name calcium channel, voltage-dependent, beta 1 subunit
HGNC id 1401
DNA
TYPE functioning gene
STRUCTURE 24.19 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif
text structure CAG repeat
MAPPING cloned Y linked Y status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 1847 55 523 - Powers, Foell
  • beta 1M
  • 13 - 1700 50.3 478 hippocampus cDNA library Powers, Foell
  • beta 1B1
  • internal deletion
  • 14 - 3687 62.7 596 hippocampus cDNA library Powers, Foell
  • beta 1B2
  • unique 152 c terminus
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivepharynx   highly
    Lymphoid/Immunethymus   highly
    Nervousbrain     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal   Homo sapiens
    Nervouscentral    Homo sapiens
    Nervousperipherous    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SH3 domain,
  • a synaptic interaction motif
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text transverse T tubules
    basic FUNCTION
  • calcium voltage-gated channel (VDCC), L (long lasting) type, contributing to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting
  • like CACNA1S, interacts directly with RYR1 and is critical for the generation of high-speed Ca(2+) signals coupled to membrane depolarization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS locomotion
    text coupling of excitation and contraction in the muscle
    PATHWAY
    metabolism
    signaling
    a component
  • CAMK2A forms stable complexes with voltage-gated calcium channel CACNB1 or CACNB2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds RYR1 and participates in this signaling process
  • cell & other
    REGULATION
    activated by expression at the cell surface
    Other regulated by GEM which inhibits Ca2+ triggered exocytosis in hormone secreting cells
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • targeted deletion of Cacnb1 in mice led to muscle pre-patterning defects, aberrant innervation and precocious maturation of the neuromuscular junction