Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CACNA1C contributors: mct/npt/pgu - updated : 20-11-2015
HGNC name calcium channel, voltage-dependent, L type, alpha 1C subunit
HGNC id 1390
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminus is important for the regulation of voltage-dependent inactivation (VDI)by CABP1
  • four domains of homology
  • a PDZ-binding motif at its cytosolic tail
  • six alpha helical membrane spanning segments (24 transmembrane segments)
  • distal C-terminus (approximately residues 1650-1950) with an important, predominantly inhibitory domain, specific for the heart channel, and containing sites for the SH2 and SH3 binding of Src kinase
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to rattus cacna1c
    ortholog to murine Cacna1c
    Homologene
    FAMILY
  • calcium channel alpha-1 subunit family
  • Enigma subfamily of the PDZ-LIM domain protein family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text colocalized with CABP1 in somatodendritic areas of neurons in the brain
    basic FUNCTION
  • calcium voltage-gated channel (VDCC), L type
  • playing an important role in excitation-contraction coupling in the heart
  • in iron transport into cardiomyocytes under iron-overloaded conditions
  • role of voltage-gated Ca2+ channels in nonexcitable cells during development (PMID;
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • CACNA1C targeting to BIN1 is functionally important to cardiac calcium signaling
  • AKAP7 interacts with neuronal CACNA1C via their C terminus
  • serine 1884 is essential for the regulation of CACNA1C by PRKD1
  • interaction between LDB3 and CACNA1C, that facilitated PRKA-mediated phosphorylation of the CACNA1C at Ser1928
  • ADRA1B contraction of vascular smooth muscle involves activation of PLD1, which controls a portion of the ADRA1B-induced CACNA1C channel activity
  • expression of CACNA1C mRNA was rhythmic (peaking during the late night) and regulated by the circadian clock component NR1D1
  • HAP1 is important for insulin secretion of pancreatic beta-cells via regulating the intracellular trafficking and plasma membrane localization of CACNA1C, providing new insight into the mechanisms that regulate insulin release from pancreatic beta cells
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TMTS , BRGS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in esophageal squamous cell carcinoma (ESCC)
    Susceptibility to bipolar disorder, and schizophrenia
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascular  
    testosterone binding to CACNA1C, thereby supporting its beneficial role as an endogenous Ca2+ channel antagonist in the treatment of cardiovascular disease
    ANIMAL & CELL MODELS
  • mice expressing CACNA1C channels with the distal C terminus deleted (DCT-/-) develop cardiac hypertrophy and die prematurely after E15