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FLASH GENE
Symbol CACNA1C contributors: mct/npt/pgu - updated : 20-11-2013
HGNC name calcium channel, voltage-dependent, L type, alpha 1C subunit
HGNC id 1390
Corresponding disease
BRGS3 Brugada syndrome 3
TMTS Timothy syndrome
Location 12p13.33      Physical location : 2.162.415 - 2.807.115
Synonym name
  • voltage-gated calcium channel alpha subunit Cav1.2
  • calcium channel, cardiac dihydropyridine-sensitive, alpha-1 subunit
  • DHPR, alpha-1 subunit
  • voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice
  • variant 10*
    Synonym symbol(s) CACNL1A1, CCHL1A1, DHPCA1, L-VDCC, CaV1.2, CACH2, CACN2, TS, LTCC
    DNA
    TYPE functioning gene
    STRUCTURE 727.16 kb     47 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure
  • DNA methylation status on the CpG island shore of Cacna1c may have an important role in transcript regulation
  • MAPPING cloned Y linked Y status confirmed
    Map pter - D12S100 - D12S1117 - D12S1094 - D12S1113 - D12S1689 - D12S381E - D12S1694 - D12S2051 - (D12S2052 , D12S1108 ) - D12S1116 - D12S1096 - D12S2044 - D12S2049 - (D12S1615 , D12S1443 , CACNA1C ) - D12S1664 - (D12S1626 , D12S1403 ) - (D12S372 , D12S1062 ) - (D12S1866 , D12S1077 , D12S1315 )- D12S1467 - D12S1050 - cen
    Authors 4st Workshop chrom.12 (97)
    Physical map
    SLC6A13 12p13.3 solute carrier family 6 (neurotransmitter transporter, GABA), member 13 RBBP2 12p11 retinoblastoma binding protein 2 MGC13183 12p13.33 hypothetical protein MGC13183 LOC390279 12 similar to proline-rich protein B4GalNac-T3 12p13.33 beta 1,4-N-acetylgalactosaminyltransferase-transferase-III NINJ2 12p13 ninjurin 2 PRKWNK1 12p13.3 protein kinase, lysine deficient 1 RAD52 12p13.33 RAD52 homolog (S. cerevisiae) ELKS 12p13.3 RAD52 homolog (S. cerevisiae) MGC40195 WNT5B 12p13.3 wingless-type MMTV integration site family, member 5B ADIPOR2 12p13.31 adiponectin receptor 2 CACNA2D4 12p13.33 calcium channel, voltage-dependent, alpha 2/delta subunit 4 DCP1B 12p13.33 decapping enzyme hDcp1b CACNA1C 12p13.33 calcium channel, voltage-dependent, L type, alpha 1C subunit FLJ11117 12p13.33 hypothetical protein FLJ11117 LOC283440 12p13.33 hypothetical LOC283440 LOC341511 12p13.33 similar to 60S ribosomal protein L23a FKBP4 12p13.33 FK506 binding protein 4, 59kDa MDS028 12p13.33 uncharacterized hematopoietic stem/progenitor cells protein MDS028 NRIP2 12p13.33 nuclear receptor interacting protein 2 FOXM1 12p13 forkhead box M1 MGC13204 12p13.33 hypothetical protein MGC13204 TULP3 12p13 tubby like protein 3 TEAD4 12p13.3-p13.2 TEA domain family member 4 LOC387825 12 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein NET-5 12p13.33 transmembrane 4 superfamily member tetraspan NET-5 PP1057 12p13.3 hypothetical protein PP1057 LOC390280 12 similar to RIKEN cDNA 1110014F12 HRMT1L3 12p13.3 HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae) MGC4266 12p13.33 hypothetical protein MGC4266 C12orf6 12p13.3 chromosome 12 open reading frame 6
    RNA
    TRANSCRIPTS type messenger
    text many alternate transcriptional splice variants
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    47 - 13480 239.51 2138 - 2008 19065143
    variant 18 or HLCC70
    49 - 13624 245 2186 - 2008 19065143
    HLCC90
    47 - 13603 243.6 2179 - 2008 19065143
    variant 3 or HLCC126
    48 - 13585 - 2173 - 2008 19065143
    variant 4 or HLCC85
    48 - 13564 - 2166 - 2008 19065143
    variant 5 or HLCC88
    48 - 13540 - 2158 - 2008 19065143
    variant 6 or HLCC87
    47 - 13537 - 2157 - 2008 19065143
    47 - 13537 - 2157 - 2008 19065143
    variant 8 or HLCC71
    47 - 13537 - 2157 - 2008 19065143
    variant 9or HLCC72
    47 - 13531 - 2155 - 2008 19065143
    variant 10 or HLCC89
    46 - 13504 - 2146 - 2008 19065143
    variant 11 or HLCC73
    46 - 13504 - 2146 - 2008 19065143
    variant 12 or HLCC74
    46 - 13498 - 2144 - 2008 19065143
    variant 13 or HLCC125
    47 - 13480 - 2138 - 2008 19065143
    47 - 13480 - 2138 - 2008 19065143
    variant 15 or HLCC69
    47 - 13480 - 2138 - 2008 19065143
    variant 16 or HLCC78
    47 - 13480 - 2138 - 2008 19065143
    variant 17 or HLCC77
    47 - 13471 239 2135 - 2008 19065143
    46 - 13447 238 2127 - 2008 19065143
    variant 20 or HLCC76
    50 - 13729 249 2221 - 2008 19065143
    48 - 13585 - 2173 - 2008 19065143
    47 - 13480 - 2138 - 2008 19065143
    47 - 13660 - 2198 - 2008 19065143
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinepancreas    
    Lymphoid/Immunespleen   highly
    Nervousbrain    
    Reproductivefemale systemuterus  highly
     male systemtestis  highly
     male systemprostate   
    Skin/Tegumentskin appendageshairfollicle   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
    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