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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
Location 17q12      Physical location : 37.329.708 - 37.353.901
Synonym name dihydropyridine-sensitive L-type, calcium channel beta-1 subunit
Synonym symbol(s) CACNLB1, CCHL3B1, CAB1, CCHLB1
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
Physical map
LOC390789 17 similar to RIKEN cDNA E130012A19 MLLT6 17q21 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 RNF110 12-12q22 ring finger protein 110 PSMB3 2q35 proteasome (prosome, macropain) subunit, beta type, 3 PIP5K2B 17q12 phosphatidylinositol-4-phosphate 5-kinase, type II, beta FLJ20291 17q21.2 hypothetical protein FLJ20291 LOC388381 17 LOC388381 RPL23 17q12 ribosomal protein L23 LASP1 17q12-q21 LIM and SH3 protein 1 LOC388382 17 hypothetical gene supported by BC009632; BC042124 FLJ43826 17q21.2 FLJ43826 protein PLXDC1 17q21.1 plexin domain containing 1 LOC390790 17 similar to Cg7197-prov protein CACNB1 17q21 calcium channel, voltage-dependent, beta 1 subunit RPL19 17q11 ribosomal protein L19 24b2/STAC2 17q21.2 24b2/STAC2 protein LOC388383 17 similar to upstream binding protein 1 MGC15482 17q21.2 F-box protein FBL2 PPARBP 17q12-q21.1 PPAR binding protein CRK7 17q21.2 CDC2-related protein kinase 7 NEUROD2 17p13.1 neurogenic differentiation 2 PPP1R1B 17q21.2 protein phosphatase 1, regulatory (inhibitor) subunit 1B (dopamine and cAMP regulated phosphoprotein, DARPP-32) STARD3 17q21.1 START domain containing 3 TCAP 17q12-q21.1 titin-cap (telethonin) PNMT 17q21.1 phenylethanolamine N-methyltransferase CAB2 17q21.2 CAB2 protein ERBB2 17q11.2-q12 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
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