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

    Gene ID: 775, updated on 5-Jul-2015
    Official Symbol
    CACNA1Cprovided by HGNC
    Official Full Name
    calcium channel, voltage-dependent, L type, alpha 1C subunitprovided by HGNC
    Primary source
    HGNC:HGNC:1390
    See related
    Ensembl:ENSG00000151067; HPRD:00246; MIM:114205; Vega:OTTHUMG00000150243
    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; LQT8; CACH2; CACN2; CaV1.2; CCHL1A1; CACNL1A1
    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. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
    Orthologs
    See CACNA1C in Epigenomics, MapViewer
    Location:
    12p13.3
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (1970786..2697949)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (2079952..2807115)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene calcium channel, voltage-dependent, alpha 2/delta subunit 4 Neighboring gene lysosomal-associated membrane protein 1 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 940 Neighboring gene uncharacterized LOC105369604 Neighboring gene decapping mRNA 1B Neighboring gene CACNA1C intronic transcript 2 Neighboring gene CACNA1C antisense RNA 4 Neighboring gene CACNA1C intronic transcript 3 Neighboring gene uncharacterized LOC105369603 Neighboring gene CACNA1C antisense RNA 2 Neighboring gene CACNA1C antisense RNA 1 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 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Brugada syndrome 3
    MedGen: C2678478 OMIM: 611875 GeneReviews: Brugada Syndrome
    Compare labs
    Timothy syndrome
    MedGen: C1832916 OMIM: 601005 GeneReviews: Timothy Syndrome
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303.
    NHGRI GWA Catalog
    A genome-wide association study of sleep habits and insomnia.
    NHGRI GWA Catalog
    A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
    NHGRI GWA Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    NHGRI GWA Catalog
    Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    NHGRI GWA Catalog
    Genome-wide association study identifies five new schizophrenia loci.
    NHGRI GWA Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    NHGRI GWA Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    NHGRI GWA Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
    NHGRI GWA Catalog
    Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
    NHGRI GWA Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    NHGRI GWA Catalog
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    • Dopaminergic synapse, organism-specific biosystem (from KEGG)
      Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
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    • GABAergic synapse, organism-specific biosystem (from KEGG)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC120730

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to high voltage-gated calcium channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphatase 2A binding IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance TAS
    Traceable Author Statement
    more info
     
    calcium ion import IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transport into cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    calcium ion-dependent exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    calcium-mediated signaling using extracellular calcium source TAS
    Traceable Author Statement
    more info
    PubMed 
    cell communication by electrical coupling involved in cardiac conduction TAS
    Traceable Author Statement
    more info
    PubMed 
    energy reserve metabolic process TAS
    Traceable Author Statement
    more info
     
    glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    growth hormone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane depolarization during action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    smooth muscle contraction involved in micturition IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    caveolar macromolecular signaling complex IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendritic shaft IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    voltage-dependent L-type calcium channel subunit alpha-1C
    Names
    DHPR, alpha-1 subunit
    calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle
    calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit
    voltage-dependent L-type Ca2+ channel alpha 1 subunit
    voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*

    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_008801.2 RefSeqGene

      Range
      87465..732164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_334

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000710.5

      Status: REVIEWED

      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
      ENSP00000382563, OTTHUMP00000196730, ENST00000399655, OTTHUMT00000317019
      Conserved Domains (3) summary
      pfam08763
      Location:16111642
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    2. NM_001129827.1NP_001123299.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 2

      Status: REVIEWED

      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. This isoform (2) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
      Source sequence(s)
      AC005342, AC007618, Z34821
      Consensus CDS
      CCDS44788.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000480292, ENST00000615400
      Conserved Domains (3) summary
      pfam08763
      Location:16591690
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12731523
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    3. NM_001129829.1NP_001123301.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 3

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16521683
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531497
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    4. NM_001129830.2NP_001123302.2  voltage-dependent L-type calcium channel subunit alpha-1C isoform 4

      Status: REVIEWED

      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)
      AC007618, AF465484, AK309111, KF455578, Z34822
      Consensus CDS
      CCDS53736.1
      UniProtKB/TrEMBL
      A0A0A0MR67
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000484796, ENST00000621625
      Conserved Domains (3) summary
      pfam08763
      Location:16111642
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    5. NM_001129831.1NP_001123303.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 5

      Status: REVIEWED

      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. This isoform (5) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
      Source sequence(s)
      AC005342, AC007618, Z34819
      Consensus CDS
      CCDS44790.1
      UniProtKB/Swiss-Prot
      Q13936
      Conserved Domains (3) summary
      pfam08763
      Location:16391670
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531503
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    6. NM_001129832.1NP_001123304.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 6

      Status: REVIEWED

      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. This isoform (6) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
      Source sequence(s)
      AC005342, AC007618, Z34818
      Consensus CDS
      CCDS44789.1
      UniProtKB/Swiss-Prot
      Q13936
      Conserved Domains (3) summary
      pfam08763
      Location:16311662
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12731495
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    7. NM_001129833.1NP_001123305.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 7

      Status: REVIEWED

      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
      Consensus CDS
      CCDS53735.1
      UniProtKB/Swiss-Prot
      Q13936
      Conserved Domains (3) summary
      pfam08763
      Location:16301661
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    8. NM_001129834.1NP_001123306.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 8

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16301661
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    9. NM_001129835.1NP_001123307.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 9

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16301661
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    10. NM_001129836.1NP_001123308.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 10

      Status: REVIEWED

      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. This isoform (10) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
      Source sequence(s)
      AC005342, AC007618, Z34820
      Consensus CDS
      CCDS44797.1
      UniProtKB/Swiss-Prot
      Q13936
      Conserved Domains (3) summary
      pfam08763
      Location:16281659
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531492
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    11. NM_001129837.1NP_001123309.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 11

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16191650
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531464
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    12. NM_001129838.1NP_001123310.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 12

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16191650
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531464
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    13. NM_001129839.1NP_001123311.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 13

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16171648
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531462
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    14. NM_001129840.1NP_001123312.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 14

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16111642
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    15. NM_001129841.1NP_001123313.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 15

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16111642
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    16. NM_001129842.1NP_001123314.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 16

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16111642
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    17. NM_001129843.1NP_001123315.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 17

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16111642
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    18. NM_001129844.1NP_001123316.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 19

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16081639
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12501472
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    19. NM_001129846.1NP_001123318.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 20

      Status: REVIEWED

      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
      Conserved Domains (3) summary
      pfam08763
      Location:16001631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531464
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    20. NM_001167623.1NP_001161095.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 21

      Status: REVIEWED

      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
      Consensus CDS
      CCDS53734.1
      UniProtKB/Swiss-Prot
      Q13936
      Conserved Domains (3) summary
      pfam08763
      Location:16111642
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    21. NM_001167624.2NP_001161096.2  voltage-dependent L-type calcium channel subunit alpha-1C isoform 22

      Status: REVIEWED

      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)
      AC007618, AF465484, AK309111, KF455578, L29534, Z34816
      Consensus CDS
      CCDS53733.1
      UniProtKB/TrEMBL
      A0A0A0MSA1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000483335, ENST00000613940
      Conserved Domains (3) summary
      pfam08763
      Location:16111642
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    22. NM_001167625.1NP_001161097.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 23

      Status: REVIEWED

      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
      Related
      ENSP00000479029, ENST00000620878
      Conserved Domains (3) summary
      pfam08763
      Location:16001631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531464
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    23. NM_199460.3NP_955630.3  voltage-dependent L-type calcium channel subunit alpha-1C isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also referred to as HFCC, encodes the longest isoform (1). This isoform (1) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
      Source sequence(s)
      AB209016, AC007618, AF465484, AK309111, AY562395, KF455578, L29534, L29536, Z34816, Z34822
      UniProtKB/Swiss-Prot
      Q13936
      UniProtKB/TrEMBL
      Q59GU3
      UniProtKB/TrEMBL
      Q5V9X9
      Related
      ENSP00000480922, ENST00000615303
      Conserved Domains (3) summary
      pfam08763
      Location:16591690
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12731523
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

      Range
      1970786..2697949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521020.1XP_011519322.1  

      Conserved Domains (3) summary
      pfam08763
      Location:16661697
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:13081530
      Ion_trans; Ion transport protein
      cl01503
      Location:232321
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    2. XM_006719017.1XP_006719080.1  

      Conserved Domains (3) summary
      pfam08763
      Location:16411672
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12831505
      Ion_trans; Ion transport protein
      cl01503
      Location:232321
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    3. XM_011521022.1XP_011519324.1  

      Conserved Domains (3) summary
      pfam08763
      Location:16111642
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    4. XM_011521023.1XP_011519325.1  

      Conserved Domains (3) summary
      pfam08763
      Location:16361667
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12781500
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    5. XM_011521021.1XP_011519323.1  

      Conserved Domains (3) summary
      pfam08763
      Location:16111642
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12531475
      Ion_trans; Ion transport protein
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    6. XM_011521018.1XP_011519320.1  

      Conserved Domains (2) summary
      pfam08763
      Location:11931224
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:7881038
      Ion_trans; Ion transport protein
    7. XM_011521017.1XP_011519319.1  

      Conserved Domains (2) summary
      pfam08763
      Location:13781409
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:9731223
      Ion_trans; Ion transport protein
    8. XM_011521019.1XP_011519321.1  

      Conserved Domains (2) summary
      pfam08763
      Location:563594
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:158408
      Ion_trans; Ion transport protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      2161408..2806152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)