Format

Send to:

Choose Destination
    • Showing Current items.

    CACNA1C calcium voltage-gated channel subunit alpha1 C [ Homo sapiens (human) ]

    Gene ID: 775, updated on 4-Oct-2020

    Summary

    Official Symbol
    CACNA1Cprovided by HGNC
    Official Full Name
    calcium voltage-gated channel subunit alpha1 Cprovided by HGNC
    Primary source
    HGNC:HGNC:1390
    See related
    Ensembl:ENSG00000151067 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; LQT8; CACH2; CACN2; CaV1.2; CCHL1A1; CACNL1A1; TS. LQT8
    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]
    Expression
    Broad expression in endometrium (RPKM 5.2), heart (RPKM 4.5) and 19 other tissues See more
    Orthologs

    Genomic context

    See CACNA1C in Genome Data Viewer
    Location:
    12p13.33
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (1969552..2697950)
    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 voltage-gated channel auxiliary subunit alpha2delta 4 Neighboring gene uncharacterized LOC112268103 Neighboring gene long intergenic non-protein coding RNA 940 Neighboring gene CACNA1C intronic transcript 1 Neighboring gene decapping mRNA 1B Neighboring gene CACNA1C intronic transcript 2 Neighboring gene uncharacterized LOC107984131 Neighboring gene CACNA1C antisense RNA 4 Neighboring gene CACNA1C intronic transcript 3 Neighboring gene CACNA1C antisense RNA 2 Neighboring gene CACNA1C antisense RNA 1 Neighboring gene ribosomal protein S6 pseudogene 18 Neighboring gene calcium voltage-gated channel subunit alpha1 C pseudogene Neighboring gene long intergenic non-protein coding RNA 2371 Neighboring gene ITFG2 antisense RNA 1 Neighboring gene IQ motif and Sec7 domain 3 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303.
    GeneReviews: Not available
    A genome-wide association study of sleep habits and insomnia.
    GeneReviews: Not available
    A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
    GeneReviews: Not available
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Brugada syndrome 3
    MedGen: C2678478 OMIM: 611875 GeneReviews: Brugada Syndrome
    Compare labs
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    GeneReviews: Not available
    Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
    GeneReviews: Not available
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    GeneReviews: Not available
    Genome-wide association study identifies five new schizophrenia loci.
    GeneReviews: Not available
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    GeneReviews: Not available
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    GeneReviews: Not available
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    GeneReviews: Not available
    Long QT syndrome 8
    MedGen: CN260585 OMIM: 618447 GeneReviews: Not available
    Compare labs
    Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
    GeneReviews: Not available
    Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
    GeneReviews: Not available
    Seventy-five genetic loci influencing the human red blood cell.
    GeneReviews: Not available
    Timothy syndrome
    MedGen: C1832916 OMIM: 601005 GeneReviews: Long QT Syndrome, Timothy Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2016-03-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2016-03-24)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC120730, DKFZp761C1547

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    calcium ion import IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium ion transmembrane transport via high voltage-gated calcium channel IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium ion transport into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium ion transport into cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    calcium-mediated signaling using extracellular calcium source TAS
    Traceable Author Statement
    more info
    PubMed 
    camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac conduction TAS
    Traceable Author Statement
    more info
     
    cardiac muscle cell action potential involved in contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell communication by electrical coupling involved in cardiac conduction TAS
    Traceable Author Statement
    more info
    PubMed 
    embryonic forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    immune system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane depolarization during AV node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane depolarization during atrial cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane depolarization during cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of adenylate cyclase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
    Inferred from Sequence or Structural Similarity
    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 heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
     
    regulation of ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    L-type voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    perikaryon 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 
    postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    voltage-dependent L-type calcium channel subunit alpha-1C
    Names
    DHPR, alpha-1 subunit
    calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit
    calcium channel, voltage-dependent, L type, alpha 1C subunit
    voltage-dependent L-type Ca2+ channel alpha 1 subunit
    voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*

    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_008801.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000719.7NP_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
      ENSP00000382563.1, ENST00000399655.6
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16542086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    2. NM_001129827.2NP_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
      ENSP00000266376.6, ENST00000347598.9
      Conserved Domains (5) summary
      pfam00520
      Location:12561535
      Ion_trans; Ion transport protein
      pfam08763
      Location:16081679
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:17022134
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:15431606
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    3. NM_001129829.2NP_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
      Related
      ENSP00000341092.3, ENST00000344100.7
      Conserved Domains (5) summary
      pfam00520
      Location:141416
      Ion_trans; Ion transport protein
      pfam08763
      Location:15821672
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16952127
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:15171580
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    4. NM_001129830.3NP_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)
      AC005342, AC007618, AF465484, AK309111, KF455578, Z34822
      Consensus CDS
      CCDS53736.1
      UniProtKB/Swiss-Prot
      Q13936
      UniProtKB/TrEMBL
      A0A0A0MR67
      Related
      ENSP00000329877.7, ENST00000327702.12
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16542121
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    5. NM_001129831.2NP_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
      Related
      ENSP00000382547.1, ENST00000399638.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361515
      Ion_trans; Ion transport protein
      pfam08763
      Location:15881659
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16822114
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:15231586
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    6. NM_001129832.2NP_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
      Related
      ENSP00000382515.1, ENST00000399606.5
      Conserved Domains (5) summary
      pfam00520
      Location:12561507
      Ion_trans; Ion transport protein
      pfam08763
      Location:15801651
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16742106
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:15151578
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    7. NM_001129833.2NP_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
      Related
      ENSP00000385724.3, ENST00000402845.7
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601650
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16732105
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    8. NM_001129834.2NP_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
      Related
      ENSP00000382530.1, ENST00000399621.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601650
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16732105
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    9. NM_001129835.2NP_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
      Related
      ENSP00000382546.1, ENST00000399637.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601650
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16732105
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    10. NM_001129836.2NP_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
      Related
      ENSP00000382537.1, ENST00000399629.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361504
      Ion_trans; Ion transport protein
      pfam08763
      Location:15771648
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16712103
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:15121575
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    11. NM_001129837.2NP_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
      Related
      ENSP00000382504.1, ENST00000399595.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361476
      Ion_trans; Ion transport protein
      pfam08763
      Location:15491639
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16622094
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14841547
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    12. NM_001129838.2NP_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
      Related
      ENSP00000382500.1, ENST00000399591.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361476
      Ion_trans; Ion transport protein
      pfam08763
      Location:15491639
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16622094
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14841547
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    13. NM_001129839.2NP_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
      Related
      ENSP00000382557.1, ENST00000399649.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361474
      Ion_trans; Ion transport protein
      pfam08763
      Location:15471637
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16602092
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14821545
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    14. NM_001129840.2NP_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
      Related
      ENSP00000382549.1, ENST00000399641.6
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16542086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    15. NM_001129841.2NP_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
      Related
      ENSP00000382552.1, ENST00000399644.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16542086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    16. NM_001129842.2NP_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
      Related
      ENSP00000382506.1, ENST00000399597.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16542086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    17. NM_001129843.2NP_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
      Related
      ENSP00000382510.1, ENST00000399601.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16542086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    18. NM_001129844.2NP_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 (5) summary
      pfam00520
      Location:12331484
      Ion_trans; Ion transport protein
      pfam08763
      Location:15571628
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16512083
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14921555
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    19. NM_001129846.2NP_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 (5) summary
      pfam00520
      Location:12361476
      Ion_trans; Ion transport protein
      pfam08763
      Location:15491620
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16432075
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14841547
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    20. NM_001167623.2NP_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
      Related
      ENSP00000382512.1, ENST00000399603.6
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16542086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    21. NM_001167624.3NP_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)
      AC005342, AC007618, AF465484, AK309111, KF455578, L29534, Z34816
      Consensus CDS
      CCDS53733.1
      UniProtKB/Swiss-Prot
      Q13936
      UniProtKB/TrEMBL
      A0A0A0MSA1
      Related
      ENSP00000382526.1, ENST00000399617.5
      Conserved Domains (5) summary
      pfam00520
      Location:12361487
      Ion_trans; Ion transport protein
      pfam08763
      Location:15601631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16542121
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14951558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    22. NM_001167625.2NP_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
      Conserved Domains (5) summary
      pfam00520
      Location:12361476
      Ion_trans; Ion transport protein
      pfam08763
      Location:15491620
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:18802146
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14841547
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    23. NM_199460.4NP_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, AC005342, AC007618, AF465484, AK309111, AY562395, KF455578, L29534, L29536, Z34816, Z34822
      UniProtKB/Swiss-Prot
      Q13936
      UniProtKB/TrEMBL
      Q59GU3, Q5V9X9
      Conserved Domains (5) summary
      pfam00520
      Location:12561535
      Ion_trans; Ion transport protein
      pfam08763
      Location:16081679
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:17022169
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:15431606
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      1969552..2697950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019926.2XP_016875415.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X1

    2. XM_017019927.2XP_016875416.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X2

    3. XM_017019928.2XP_016875417.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X3

    4. XM_017019929.2XP_016875418.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X4

    5. XM_017019935.2XP_016875424.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X10

    6. XM_017019955.2XP_016875444.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X32

    7. XM_017019946.2XP_016875435.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X21

      Related
      ENSP00000385896.3, ENST00000406454.7
    8. XM_017019932.2XP_016875421.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X7

      Related
      ENSP00000382542.1, ENST00000399634.5
    9. XM_017019934.2XP_016875423.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X9

    10. XM_017019943.2XP_016875432.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X18

    11. XM_017019949.2XP_016875438.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X24

    12. XM_017019947.2XP_016875436.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X22

    13. XM_017019950.2XP_016875439.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X25

    14. XM_017019930.2XP_016875419.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X5

    15. XM_017019931.2XP_016875420.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X6

    16. XM_017019933.2XP_016875422.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X8

    17. XM_017019937.2XP_016875426.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X12

    18. XM_017019944.2XP_016875433.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X19

    19. XM_017019936.2XP_016875425.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X11

    20. XM_017019942.2XP_016875431.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X17

    21. XM_017019941.2XP_016875430.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X16

    22. XM_017019939.2XP_016875428.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X14

    23. XM_017019948.2XP_016875437.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X23

    24. XM_017019938.2XP_016875427.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X13

    25. XM_017019945.2XP_016875434.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X20

    26. XM_017019940.2XP_016875429.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X15

    27. XM_017019952.2XP_016875441.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X27

    28. XM_017019951.2XP_016875440.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X26

    29. XM_011521020.2XP_011519322.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X28

      Conserved Domains (5) summary
      pfam00520
      Location:12911542
      Ion_trans; Ion transport protein
      pfam08763
      Location:16151686
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:17092141
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:15501613
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:232321
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    30. XM_017019954.1XP_016875443.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X31

    31. XM_006719017.2XP_006719080.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X30

      Conserved Domains (5) summary
      pfam00520
      Location:12661517
      Ion_trans; Ion transport protein
      pfam08763
      Location:15901661
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16842116
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:15251588
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:232321
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein
    32. XM_017019953.1XP_016875442.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X29

    33. XM_011521023.3XP_011519325.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X33

      UniProtKB/TrEMBL
      F5H522
      Related
      ENSP00000336982.5, ENST00000335762.9
      Conserved Domains (5) summary
      pfam00520
      Location:12611512
      Ion_trans; Ion transport protein
      pfam08763
      Location:15851656
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16792111
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:15201583
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_018654718.1 Reference GRCh38.p13 PATCHES

      Range
      395131..1046066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center