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    CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit [ Homo sapiens ]

    Gene ID: 775, updated on 25-Jan-2011
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    Summary

    Official Symbol
    CACNA1Cprovided by HGNC
    Official Full Name
    calcium channel, voltage-dependent, L type, alpha 1C subunitprovided by HGNC
    Primary source
    HGNC:1390
    See related
    Ensembl:ENSG00000151067; HPRD:00246; MIM:114205
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TS; CACH2; CACN2; CaV1.2; CCHL1A1; CACNL1A1; MGC120730; CACNA1C
    Summary
    This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. [provided by RefSeq]
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    Genomic regions, transcripts, and products

    Go to reference sequence details

    Go to nucleotideGraphics FASTA GenBank

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    Genomic context

    chromosome: 12; Location: 12p13.3

    See CACNA1C in MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene hypothetical LOC100271702 Neighboring gene DCP1 decapping enzyme homolog B (S. cerevisiae) Neighboring gene hypothetical protein LOC100507402 Neighboring gene ribosomal protein S6 pseudogene 18 Neighboring gene calcium channel, voltage-dependent, L type, alpha 1C subunit pseudogene Neighboring gene IQ motif and Sec7 domain 3 pseudogene

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    Bibliography

    Related articles in PubMed

    1. MicroRNA-328 contributes to adverse electrical remodeling in atrial fibrillation. Lu Y, et al. Circulation, 2010 Dec 7. PMID 21098446.
    2. Effects of a CACNA1C genotype on attention networks in healthy individuals. Thimm M, et al. Psychol Med, 2010 Nov 16. PMID 21078228.
    3. Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes. Curtis D, et al. Psychiatr Genet, 2011 Feb. PMID 21057379.
    4. Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. Wray NR, et al. Mol Psychiatry, 2010 Nov 2. PMID 21042317.
    5. Multiple C-terminal tail Ca(2+)/CaMs regulate Ca(V)1.2 function but do not mediate channel dimerization. Kim EY, et al. EMBO J, 2010 Dec 1. PMID 20953164.

    See all (129) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Genetic variation in the pleiotropic psychiatric disease gene CACNA1C is associated with brainstem volume.
      Title: Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals.
    2. Presented is the crystal structure of an in vivo produced Ca2+/calmodulin-CaV1.2 PreIQ-IQ domain complex.
      Title: Multiple C-terminal tail Ca(2+)/CaMs regulate Ca(V)1.2 function but do not mediate channel dimerization.
    3. Cardiac L-type calcium channel alpha1c subunit is a potential target for microRNA-328 in transgenic mice.
      Title: MicroRNA-328 contributes to adverse electrical remodeling in atrial fibrillation.
    4. We found that the risk allele conferred increased risk for schizophrenia (P=0.034) and recurrent major depression (P=0.013) with similar effect sizes to those previously observed in BD (allelic odds ratio approximately 1.15)
      Title: The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia.
    5. there is genetic variation local to CACNA1C gene affecting its expression, but that this variation is not responsible for increasing risk of bipolar disorder
      Title: Evidence for cis-acting regulation of ANK3 and CACNA1C gene expression.
    6. Suggest that atrial fibrillation is not associated with loss-of-function mutation of Cacna1c.
      Title: Absence of calcium channel alpha1C-subunit mutation in human atrial fibrillation.
    7. mutations in the lower part of IIS6 may affect conformations of interacting segments.
      Title: Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.
    8. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.
    9. Statistical analysis indicated that six genes, NFATC2, SCP2, CACNA1C, TCRA, POLE, and FAM3D, were associated with narcolepsy.
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    10. Phospholemman modulates the gating of cardiac L-type calcium channels
      Title: Phospholemman modulates the gating of cardiac L-type calcium channels.
    Submit: New GeneRIF Correction See all (78)
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    Phenotypes

    Brugada syndrome 3
    MIM: 611875
    Timothy syndrome
    MIM: 601005
    A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
    NHGRI GWA Catalog
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder
    NHGRI GWA Catalog
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    Interactions

    Product Interactant Other Gene Complex Source Pubs Description
    NP_000710.4 NP_002065.1 GNB1    BIND  PubMed Cav1.2 interacts with G-beta-1. This interaction was modeled on a demonstrated interaction between Cav1.2 and G-beta-1, both from unspecified species. 
    Q13936 Q9NZU7 CABP1    HPRD  PubMed  
    Q13936 P54284 CACNB3    HPRD  PubMed  
    Q13936 P62873 GNB1    HPRD  PubMed  
    Q13936 P35813 PPM1A    HPRD  PubMed  
    Q13936 P17612 PRKACA    HPRD  PubMed  
    Q13936 Q86UR5 RIMS1    HPRD  PubMed  
    Q13936 Q92736 RYR2    HPRD  PubMed  
    Q13936 P30626 SRI    HPRD  PubMed  
    BioGRID:107229 BioGRID:114863 CABP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:107229 BioGRID:107238 CACNB3    BioGRID  PubMed Co-crystal Structure 
    BioGRID:107229 BioGRID:111125 PCBD1    BioGRID  PubMed Two-hybrid 
    BioGRID:107229 BioGRID:112174 RYR2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107229 BioGRID:112595 SRI    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Related pseudogene(s)

    1 found   Review record(s) in Gene

    Homology

    Pathways from BioSystems

    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Diabetes pathways, organism-specific biosystem (from REACTOME)
      Diabetes pathways, organism-specific biosystem
      Diabetes pathways
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • GnRH signaling pathway, organism-specific biosystem (from KEGG)
      GnRH signaling pathway, organism-specific biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • GnRH signaling pathway, conserved biosystem (from KEGG)
      GnRH signaling pathway, conserved biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Inhibition of Insulin Secretion by Adrenaline/Noradrenaline, organism-specific biosystem (from REACTOME)
      Inhibition of Insulin Secretion by Adrenaline/Noradrenaline, organism-specific biosystemThe catecholamines adrenaline (epinephrine) and noradrenaline (norepinephrine) inhibit insulin secretion from pancreatic beta cells. Four effects are seen in the cells:1. Inhibition of exocytosis of ...
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • Long-term potentiation, organism-specific biosystem (from KEGG)
      Long-term potentiation, organism-specific biosystemHippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippo...
    • Long-term potentiation, conserved biosystem (from KEGG)
      Long-term potentiation, conserved biosystemHippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippo...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Regulation of Insulin Secretion, organism-specific biosystem (from REACTOME)
      Regulation of Insulin Secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, conserved biosystem (from KEGG)
      Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...

    Gene Ontology

    Provided by GOA

    Function Evidence Code Pubs
    calmodulin binding IPI PubMed 
    protein binding IPI PubMed 
    protein domain specific binding IEA  
    protein phosphatase 2A binding IEA  
    voltage-gated calcium channel activity IDA PubMed 
    voltage-gated ion channel activity IEA  
    Process Evidence Code Pubs
    axon guidance TAS  
    calcium ion transport IEA  
    calcium ion transport into cytosol TAS PubMed 
    elevation of cytosolic calcium ion concentration IDA PubMed 
    energy reserve metabolic process TAS  
    ion transport IEA  
    regulation of insulin secretion TAS  
    transmembrane transport IEA  
    Component Evidence Code Pubs
    T-tubule IEA  
    Z disc IEA  
    cytoplasm IDA PubMed 
    dendrite IEA  
    integral to membrane IDA PubMed 
    membrane fraction IEA  
    plasma membrane IDA PubMed 
    plasma membrane TAS  
    postsynaptic density IDA PubMed 
    voltage-gated calcium channel complex IDA PubMed 
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    General protein information

    Preferred Names
    voltage-dependent L-type calcium channel subunit alpha-1C
    Names
    voltage-dependent L-type calcium channel subunit alpha-1C
    OTTHUMP00000196730
    OTTHUMP00000196731
    OTTHUMP00000196732
    OTTHUMP00000196733
    OTTHUMP00000196734
    OTTHUMP00000196735
    OTTHUMP00000196736
    OTTHUMP00000196737
    OTTHUMP00000196738
    OTTHUMP00000196739
    OTTHUMP00000196740
    OTTHUMP00000196741
    OTTHUMP00000196742
    OTTHUMP00000196744
    OTTHUMP00000196746
    OTTHUMP00000196747
    OTTHUMP00000196748
    OTTHUMP00000196749
    OTTHUMP00000196750
    OTTHUMP00000196751
    DHPR, alpha-1 subunit
    voltage-gated calcium channel alpha subunit Cav1.2
    voltage-gated calcium channel subunit alpha Cav1.2
    calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit
    calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle
    calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle
    voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008801.1 RefSeqGene

      Range
      5001..649700
      Download
      GenBank FASTA Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000719.6 → NP_000710.5  voltage-dependent L-type calcium channel subunit alpha-1C isoform 18

      Description
      Transcript Variant: This variant (18), also referred to as HLCC70, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 18), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34810
      Consensus CDS
      CCDS44794.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382563, ENST00000399655
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 148
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 486
      Ion_trans; Ion transport protein
      pfam08763
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    2. NM_001129827.1 → NP_001123299.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 2

      Description
      Transcript Variant: This variant (2), also referred to as HLCC90, lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34821
      Consensus CDS
      CCDS44788.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000266376, ENST00000347598
      Conserved Domains (3) summary
      pfam08016
      Location:1266 – 1528
      Blast Score: 144
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1273 – 1523
      Blast Score: 472
      Ion_trans; Ion transport protein
      pfam08763
      Location:1659 – 1690
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    3. NM_001129829.1 → NP_001123301.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 3

      Description
      Transcript Variant: This variant (3), also referred to as HLCC126, lacks three alternate in-frame exons and uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,AY830713
      Consensus CDS
      CCDS44792.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000341092, ENST00000344100
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1502
      Blast Score: 138
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:162 – 404
      Blast Score: 470
      Ion_trans; Ion transport protein
      pfam08763
      Location:1652 – 1683
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    4. NM_001129830.1 → NP_001123302.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 4

      Description
      Transcript Variant: This variant (4), also referred to as HLCC85, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34822
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000404460, ENST00000416461
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 149
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 490
      Ion_trans; Ion transport protein
      pfam08763
      Location:1611 – 1642
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    5. NM_001129831.1 → NP_001123303.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 5

      Description
      Transcript Variant: This variant (5), also referred to as HLCC88, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 5), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34819
      Consensus CDS
      CCDS44790.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382547, ENST00000399638
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1508
      Blast Score: 145
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1503
      Blast Score: 474
      Ion_trans; Ion transport protein
      pfam08763
      Location:1639 – 1670
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    6. NM_001129832.1 → NP_001123304.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 6

      Description
      Transcript Variant: This variant (6), also referred to as HLCC87, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 6), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34818
      Consensus CDS
      CCDS44789.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382515, ENST00000399606
      Conserved Domains (3) summary
      pfam08016
      Location:1266 – 1500
      Blast Score: 147
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1273 – 1495
      Blast Score: 483
      Ion_trans; Ion transport protein
      pfam08763
      Location:1631 – 1662
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    7. NM_001129833.1 → NP_001123305.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 7

      Description
      Transcript Variant: This variant (7), also referred to has HLCC127, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 7), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,AY830712
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000383921, ENST00000405596
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 142
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 508
      Ion_trans; Ion transport protein
      pfam08763
      Location:1630 – 1661
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    8. NM_001129834.1 → NP_001123306.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 8

      Description
      Transcript Variant: This variant (8), also referred to as HLCC71, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 8), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34811
      Consensus CDS
      CCDS44793.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382530, ENST00000399621
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 148
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 489
      Ion_trans; Ion transport protein
      pfam08763
      Location:1630 – 1661
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    9. NM_001129835.1 → NP_001123307.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 9

      Description
      Transcript Variant: This variant (9), also referred to has HLCC72, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 9), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z74996
      Consensus CDS
      CCDS44799.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382546, ENST00000399637
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 149
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 490
      Ion_trans; Ion transport protein
      pfam08763
      Location:1630 – 1661
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    10. NM_001129836.1 → NP_001123308.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 10

      Description
      Transcript Variant: This variant (10), also referred to has HLCC89, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 10), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34820
      Consensus CDS
      CCDS44797.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382537, ENST00000399629
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1497
      Blast Score: 148
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1492
      Blast Score: 486
      Ion_trans; Ion transport protein
      pfam08763
      Location:1628 – 1659
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    11. NM_001129837.1 → NP_001123309.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 11

      Description
      Transcript Variant: This variant (11), also referred to as HLCC73, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 11), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34812
      Consensus CDS
      CCDS44795.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382504, ENST00000399595
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1469
      Blast Score: 149
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1464
      Blast Score: 498
      Ion_trans; Ion transport protein
      pfam08763
      Location:1619 – 1650
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    12. NM_001129838.1 → NP_001123310.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 12

      Description
      Transcript Variant: This variant (12), also referred to has HLCC74, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 12), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34813
      Consensus CDS
      CCDS44801.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382500, ENST00000399591
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1469
      Blast Score: 149
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1464
      Blast Score: 500
      Ion_trans; Ion transport protein
      pfam08763
      Location:1619 – 1650
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    13. NM_001129839.1 → NP_001123311.1  voltage-dependent L-type calcium channel subunit alpha-1C isoforom 13

      Description
      Transcript Variant: This variant (13), also referred to has HLCC125, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 13), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,AY830711
      Consensus CDS
      CCDS44796.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382557, ENST00000399649
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1467
      Blast Score: 145
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1462
      Blast Score: 497
      Ion_trans; Ion transport protein
      pfam08763
      Location:1617 – 1648
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    14. NM_001129840.1 → NP_001123312.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 14

      Description
      Transcript Variant: This variant (14), also referred to has HLCC105, lacks four alternate in-frame exons and contains an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 14), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,AJ224873
      Consensus CDS
      CCDS44787.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382549, ENST00000399641
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 148
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    15. NM_001129841.1 → NP_001123313.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 15

      Description
      Transcript Variant: This variant (15), also referred to has HLCC69, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 15), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34809
      Consensus CDS
      CCDS44798.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382552, ENST00000399644
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 142
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 506
      Ion_trans; Ion transport protein
      pfam08763
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    16. NM_001129842.1 → NP_001123314.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 16

      Description
      Transcript Variant: This variant (16), also referred to has HLCC78, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 16), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34816
      Consensus CDS
      CCDS44791.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382506, ENST00000399597
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 141
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 504
      Ion_trans; Ion transport protein
      pfam08763
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    17. NM_001129843.1 → NP_001123315.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 17

      Description
      Transcript Variant: This variant (17), also referred to has HLCC77, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 17), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34815
      Consensus CDS
      CCDS44800.1
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000382510, ENST00000399601
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 148
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    18. NM_001129844.1 → NP_001123316.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 19

      Description
      Transcript Variant: This variant (19) lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 19), compared to isoform 1.
      Source sequence(s)
      AC005342,AC005866,AC007618,BC146846
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000399378, ENST00000432168
      Conserved Domains (3) summary
      pfam08016
      Location:1243 – 1477
      Blast Score: 141
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1250 – 1472
      Blast Score: 504
      Ion_trans; Ion transport protein
      pfam08763
      Location:1608 – 1639
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    19. NM_001129846.1 → NP_001123318.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 20

      Description
      Transcript Variant: This variant (20), also referred to as HLCC76, lacks four alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 20), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,Z34814
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000408925, ENST00000446282
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1469
      Blast Score: 148
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1464
      Blast Score: 497
      Ion_trans; Ion transport protein
      pfam08763
      Location:1600 – 1631
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    20. NM_001167623.1 → NP_001161095.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 21

      Description
      Transcript Variant: This variant (21) lacks four alternate in-frame exons and contains another alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform 21), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,AF465484,L29536,Z34816
      UniProtKB/Swiss-Prot
      Q13936
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 141
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 504
      Ion_trans; Ion transport protein
      pfam08763
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    21. NM_001167624.1 → NP_001161096.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 22

      Description
      Transcript Variant: This variant (22) lacks two alternate in-frame exons and contains another alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform 22), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,AF465484,L29534,Z34816
      UniProtKB/Swiss-Prot
      Q13936
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1480
      Blast Score: 142
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1475
      Blast Score: 508
      Ion_trans; Ion transport protein
      pfam08763
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    22. NM_001167625.1 → NP_001161097.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 23

      Description
      Transcript Variant: This variant (23) lacks five alternate in-frame exons and contains another two alternate in-frame exons compared to variant 1, resulting in a shorter protein (isoform 23), compared to isoform 1.
      Source sequence(s)
      AC005342,AC007618,AF465484,L29529,Z34814
      UniProtKB/Swiss-Prot
      Q13936
      Conserved Domains (3) summary
      pfam08016
      Location:1246 – 1469
      Blast Score: 149
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1253 – 1464
      Blast Score: 500
      Ion_trans; Ion transport protein
      pfam08763
      Location:1600 – 1631
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    23. NM_199460.2 → NP_955630.2  voltage-dependent L-type calcium channel subunit alpha-1C isoform 1

      Description
      Transcript Variant: This variant (1), also referred to as HFCC, encodes the longest isoform (1).
      Source sequence(s)
      AC007618,M92269
      UniProtKB/Swiss-Prot
      Q13936
      Related Ensembl
      ENSP00000372145, ENST00000382698
      Conserved Domains (3) summary
      pfam08016
      Location:1266 – 1528
      Blast Score: 145
      PKD_channel; Polycystin cation channel
      pfam00520
      Location:1273 – 1523
      Blast Score: 475
      Ion_trans; Ion transport protein
      pfam08763
      Location:1659 – 1690
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain

    RefSeqs of Annotated Genomes: Build 37.2

    The following sections contain reference sequences that belong to a specific genome build. Explain

    GRCh37.p2 Reference primary assembly

    Genomic

    1. NC_000012.11

      Range
      2162416..2807115
      Download
      GenBank FASTA Sequence Viewer (Graphics)

    2. NT_009759.16 

      Range
      2102416..2747115
      Download
      GenBank FASTA Sequence Viewer (Graphics)

    Alternate assembly Celera

    Genomic

    1. AC_000055.1

      Range
      3770102..4421688
      Download
      GenBank FASTA Sequence Viewer (Graphics)

    2. NW_925295.1 

      Range
      1973684..2625270
      Download
      GenBank FASTA Sequence Viewer (Graphics)

    Alternate assembly HuRef

    Genomic

    1. AC_000144.1

      Range
      2016426..2664567
      Download
      GenBank FASTA Sequence Viewer (Graphics)

    2. NW_001838049.2 

      Range
      2780109..3428250, complement
      Download
      GenBank FASTA Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC005293.1 (2..143125) None
    genomic AC005342.1 (177612..220255) None
    genomic AC005344.1 (306..153835) None
    genomic AC005414.2 (203..109369) None
    genomic AC005866.4 None
    genomic AC006051.1 None
    genomic AC007618.21 (5781..40875) None
    genomic CH471116.2 EAW88895.1
      EAW88896.1
      EAW88897.1
      EAW88898.1
      EAW88899.1
      EAW88900.1
      EAW88901.1
      EAW88902.1
      EAW88903.1
      EAW88904.1
      EAW88905.1
      EAW88906.1
      EAW88907.1
      EAW88908.1
      EAW88909.1
      EAW88910.1
    genomic L04568.1 AAA02500.2
    genomic M61130.1 AAA58409.1
    genomic M91370.1 AAA74590.1
    genomic M92269.1 AAA17030.1
    genomic Z26257.1 None
    genomic Z26308.1 None
    mRNA AB209016.1 BAD92253.1
    mRNA AF070589.1 AAC28649.1
    mRNA AF465484.1 AAM70049.1
    mRNA AJ224873.1 CAA12174.1
    mRNA AJ536834.1 CAD61168.1
    mRNA AJ537510.1 CAD61169.1
    mRNA AK092125.1 None
    mRNA AK302698.1 BAH13781.1
    mRNA AK308652.1 None
    mRNA AK309111.1 None
    mRNA AY129012.1 AAM98755.1
    mRNA AY562395.1 AAT67986.1
    mRNA AY562396.1 AAT67987.1
    mRNA AY830711.1 AAX37354.1
    mRNA AY830712.1 AAX37355.1
    mRNA AY830713.1 AAX37356.1
    mRNA BC093695.1 AAH93695.1
    mRNA BC146846.1 AAI46847.1
    mRNA CR605077.1 None
    mRNA L29529.1 AAA51899.1
    mRNA L29534.1 AAA51900.1
    mRNA L29536.1 AAA51901.1
    mRNA M57971.1 AAA62832.1
    mRNA M57972.1 AAB59461.1
    mRNA Z26294.1 CAA81218.1
    mRNA Z26295.1 CAA81219.1
    mRNA Z34809.1 CAA84340.1
    mRNA Z34810.1 CAA84341.1
    mRNA Z34811.1 CAA84342.1
    mRNA Z34812.1 CAA84343.1
    mRNA Z34813.1 CAA84344.1
    mRNA Z34814.1 CAA84345.1
    mRNA Z34815.1 CAA84346.1
    mRNA Z34816.1 CAA84347.1
    mRNA Z34817.1 CAA84348.1
    mRNA Z34818.1 CAA84349.1
    mRNA Z34819.1 CAA84350.1
    mRNA Z34820.1 CAA84351.1
    mRNA Z34821.1 CAA84352.1
    mRNA Z34822.1 CAA84353.1
    mRNA Z74996.1 CAA99284.1

    Protein Accession Links
    GenePept Link UniProtKB Link
    O95234 GenPept UniProtKB/TrEMBL:O95234
    Q13936.4 GenPept UniProtKB/Swiss-Prot:Q13936
    Q4G0H8 GenPept UniProtKB/TrEMBL:Q4G0H8
    Q59GU3 GenPept UniProtKB/TrEMBL:Q59GU3
    Q5V9X8 GenPept UniProtKB/TrEMBL:Q5V9X8
    Q5V9X9 GenPept UniProtKB/TrEMBL:Q5V9X9
    Q6YL47 GenPept UniProtKB/TrEMBL:Q6YL47
    Q86XX0 GenPept UniProtKB/TrEMBL:Q86XX0
    Q86XX1 GenPept UniProtKB/TrEMBL:Q86XX1
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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    Supplemental Content