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

    Gene ID: 775, updated on 14-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:1390
    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; NEDHLSS; CACNL1A1; TS. LQT8; CACNA1C-IT2
    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
    mouse all
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    Genomic context

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    See CACNA1C in Genome Data Viewer
    Location:
    12p13.33
    Exon count:
    57
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (1970780..2697950)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (1965666..2703402)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (2162153..2807116)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit alpha2delta 4 Neighboring gene uncharacterized LOC124902858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2021735-2022235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2025891-2026467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2042322-2042920 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:2063223-2064422 Neighboring gene long intergenic non-protein coding RNA 940 Neighboring gene Sharpr-MPRA regulatory region 10568 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:2112705-2113344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5813 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:2120775-2121283 Neighboring gene CACNA1C intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4127 Neighboring gene decapping mRNA 1B Neighboring gene NANOG hESC enhancer GRCh37_chr12:2158750-2159251 Neighboring gene CACNA1C intronic transcript 2 Neighboring gene uncharacterized LOC107984131 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2244697-2245492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2246289-2247084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2248447-2248948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2248949-2249448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2292877-2293376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2296398-2296898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2298181-2298776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2300389-2300956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2300957-2301526 Neighboring gene Sharpr-MPRA regulatory region 515 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:2327895-2328089 Neighboring gene CACNA1C antisense RNA 4 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:2364607-2365108 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:2365109-2365608 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:2379570-2379768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2382663-2383258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2383259-2383852 Neighboring gene CACNA1C intronic transcript 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2446628-2447128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2456839-2457346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2460511-2461011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2462368-2462964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2462965-2463559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2485885-2486488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2486489-2487090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2518831-2519593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2524749-2525248 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2534057-2534597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2601921-2602422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2602423-2602923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2616670-2617170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2617171-2617671 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:2629110-2630309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2642317-2642824 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:2660049-2661248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2664536-2665036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2720576-2721076 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:2721501-2721653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2736099-2736770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2736771-2737440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2747711-2748212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2760867-2761740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2786203-2786704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2788182-2789145 Neighboring gene CACNA1C antisense RNA 2 Neighboring gene CACNA1C antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4129 Neighboring gene ribosomal protein S6 pseudogene 18 Neighboring gene calcium voltage-gated channel subunit alpha1 C pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr12:2861912-2862124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2862369-2862869 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. CACNA1C risk variant and amygdala activity in bipolar disorder, schizophrenia and healthy controls. Tesli M, et al. PLoS One, 2013. PMID 23437284, Free PMC Article
    2. The impact of a CACNA1C gene polymorphism on learning and hippocampal formation in healthy individuals: a diffusion tensor imaging study. Dietsche B, et al. Neuroimage, 2014 Apr 1. PMID 24269271
    3. CACNA1C, schizophrenia and major depressive disorder in the Han Chinese population. He K, et al. Br J Psychiatry, 2014 Jan. PMID 24262814
    4. Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation. Fan C, et al. Brain, 2013 Dec. PMID 24240197, Free PMC Article
    5. A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain. Gershon ES, et al. Mol Psychiatry, 2014 Aug. PMID 23979604, Free PMC Article

    See all (395) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia.
      Title: NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia.
    2. [CACNA1C rs58619945 genotype influences the cortical thickness of attention network among patients with Bipolar disorder].
      Title: [CACNA1C rs58619945 genotype influences the cortical thickness of attention network among patients with Bipolar Ⅰ disorder].
    3. Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder.
      Title: Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder.
    4. Structural basis for human Cav1.2 inhibition by multiple drugs and the neurotoxin calciseptine.
      Title: Structural basis for human Ca(v)1.2 inhibition by multiple drugs and the neurotoxin calciseptine.
    5. Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.
      Title: Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.
    6. The rs216009 single-nucleotide polymorphism of the CACNA1C gene is associated with phantom tooth pain.
      Title: The rs216009 single-nucleotide polymorphism of the CACNA1C gene is associated with phantom tooth pain.
    7. A novel risk variant block across introns 36-45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study.
      Title: A novel risk variant block across introns 36-45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study.
    8. CACNA1C-Related Channelopathies.
      Title: CACNA1C-Related Channelopathies.
    9. EMC chaperone-CaV structure reveals an ion channel assembly intermediate.
      Title: EMC chaperone-Ca(V) structure reveals an ion channel assembly intermediate.
    10. Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.
      Title: Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.
    Submit: New GeneRIF Correction See all GeneRIFs (309)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303.
    EBI GWAS Catalog
    A genome-wide association study of sleep habits and insomnia.
    EBI GWAS Catalog
    A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    EBI GWAS Catalog
    Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Genome-wide association study identifies five new schizophrenia loci.
    EBI GWAS Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
    EBI GWAS Catalog
    Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC120730, DKFZp761C1547

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables high voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to high voltage-gated calcium channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables voltage-gated calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables voltage-gated calcium channel activity involved in AV node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    contributes_to voltage-gated calcium channel activity involved in cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables voltage-gated calcium channel activity involved in cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in calcium ion transmembrane transport via high voltage-gated calcium channel IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion transmembrane transport via high voltage-gated calcium channel IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium ion transport into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in calcium ion transport into cytosol TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cardiac muscle cell action potential involved in contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell communication by electrical coupling involved in cardiac conduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in embryonic forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in immune system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane depolarization during AV node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane depolarization during atrial cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane depolarization during cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of adenylate cyclase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of muscle contraction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of L-type voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of L-type voltage-gated calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    voltage-dependent L-type calcium channel subunit alpha-1C
    Names
    CACNA1C intronic transcript 2
    CACNA1C intronic transcript 2 (non-protein coding)
    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

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_000719.7 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000382563.1, ENST00000399655.6
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1560 → 1631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1654 → 2086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1495 → 1558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    2. NM_001129827.2 → NP_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
      B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
      Related
      ENSP00000266376.6, ENST00000347598.9
      Conserved Domains (5) summary
      pfam00520
      Location:1256 → 1535
      Ion_trans; Ion transport protein
      pfam08763
      Location:1608 → 1679
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1702 → 2134
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1543 → 1606
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    3. NM_001129829.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000341092.3, ENST00000344100.7
      Conserved Domains (5) summary
      pfam00520
      Location:141 → 416
      Ion_trans; Ion transport protein
      pfam08763
      Location:1582 → 1672
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1695 → 2127
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1517 → 1580
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    4. NM_001129830.3 → NP_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
      B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
      UniProtKB/TrEMBL
      A0A0A0MR67
      Related
      ENSP00000329877.7, ENST00000327702.12
      Conserved Domains (4) summary
      pfam00520
      Location:123 → 416
      Ion_trans; Ion transport protein
      pfam08763
      Location:1559 → 1633
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1653 → 2123
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1496 → 1549
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    5. NM_001129831.2 → NP_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
      B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
      Related
      ENSP00000382547.1, ENST00000399638.5
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1515
      Ion_trans; Ion transport protein
      pfam08763
      Location:1588 → 1659
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1682 → 2114
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1523 → 1586
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    6. NM_001129832.2 → NP_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
      B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
      Related
      ENSP00000382515.1, ENST00000399606.5
      Conserved Domains (5) summary
      pfam00520
      Location:1256 → 1507
      Ion_trans; Ion transport protein
      pfam08763
      Location:1580 → 1651
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1674 → 2106
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1515 → 1578
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    7. NM_001129833.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000385724.3, ENST00000402845.7
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1560 → 1650
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1673 → 2105
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1495 → 1558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    8. NM_001129834.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000382530.1, ENST00000399621.5
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1560 → 1650
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1673 → 2105
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1495 → 1558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    9. NM_001129835.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000382546.1, ENST00000399637.5
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1560 → 1650
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1673 → 2105
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1495 → 1558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    10. NM_001129836.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000382537.1, ENST00000399629.5
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1504
      Ion_trans; Ion transport protein
      pfam08763
      Location:1577 → 1648
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1671 → 2103
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1512 → 1575
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    11. NM_001129837.2 → NP_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/TrEMBL
      A0A804HKE9
      Related
      ENSP00000382504.1, ENST00000399595.5
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1476
      Ion_trans; Ion transport protein
      pfam08763
      Location:1549 → 1639
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1662 → 2094
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1484 → 1547
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    12. NM_001129838.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000382500.1, ENST00000399591.5
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1476
      Ion_trans; Ion transport protein
      pfam08763
      Location:1549 → 1639
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1662 → 2094
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1484 → 1547
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    13. NM_001129839.2 → NP_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/TrEMBL
      A0A804HKE9
      Related
      ENSP00000382557.1, ENST00000399649.5
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1474
      Ion_trans; Ion transport protein
      pfam08763
      Location:1547 → 1637
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1660 → 2092
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1482 → 1545
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    14. NM_001129840.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000382549.1, ENST00000399641.6
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1560 → 1631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1654 → 2086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1495 → 1558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    15. NM_001129841.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000382552.1, ENST00000399644.5
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1560 → 1631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1654 → 2086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1495 → 1558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    16. NM_001129842.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000382506.1, ENST00000399597.5
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1560 → 1631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1654 → 2086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1495 → 1558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    17. NM_001129843.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000382510.1, ENST00000399601.5
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1560 → 1631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1654 → 2086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1495 → 1558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    18. NM_001129844.2 → NP_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
      Consensus CDS
      CCDS91637.1
      UniProtKB/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000507169.1, ENST00000683482.1
      Conserved Domains (5) summary
      pfam00520
      Location:1233 → 1484
      Ion_trans; Ion transport protein
      pfam08763
      Location:1557 → 1628
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1651 → 2083
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1492 → 1555
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    19. NM_001129846.2 → NP_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
      Consensus CDS
      CCDS91636.1
      UniProtKB/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000507309.1, ENST00000682686.1
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1476
      Ion_trans; Ion transport protein
      pfam08763
      Location:1549 → 1620
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1643 → 2075
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1484 → 1547
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    20. NM_001167623.2 → NP_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/TrEMBL
      A0A804HIZ0
      Related
      ENSP00000382512.1, ENST00000399603.6
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1560 → 1631
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1654 → 2086
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1495 → 1558
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    21. NM_001167624.3 → NP_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
      B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
      UniProtKB/TrEMBL
      A0A0A0MSA1
      Related
      ENSP00000382526.1, ENST00000399617.6
      Conserved Domains (4) summary
      pfam00520
      Location:1218 → 1487
      Ion_trans; Ion transport protein
      pfam08763
      Location:1559 → 1633
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1653 → 2123
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1496 → 1549
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    22. NM_001167625.2 → NP_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
      Consensus CDS
      CCDS91634.1
      UniProtKB/TrEMBL
      E9PDI6, F5GY28
      Related
      ENSP00000382542.2, ENST00000399634.6
      Conserved Domains (5) summary
      pfam00520
      Location:1236 → 1476
      Ion_trans; Ion transport protein
      pfam08763
      Location:1549 → 1620
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1880 → 2146
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1484 → 1547
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    23. NM_199460.4 → NP_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
      B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
      Related
      ENSP00000507184.1, ENST00000682544.1
      Conserved Domains (4) summary
      pfam00520
      Location:123 → 416
      Ion_trans; Ion transport protein
      pfam08763
      Location:1607 → 1681
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1701 → 2171
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1544 → 1597
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      1970780..2697950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019926.3 → XP_016875415.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X1

      UniProtKB/TrEMBL
      A0A804HIR0

    2. XM_017019934.3 → XP_016875423.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X16

      UniProtKB/TrEMBL
      A0A804HJR1

    3. XM_017019946.3 → XP_016875435.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X20

      UniProtKB/TrEMBL
      A0A804HJR1

    4. XM_017019943.3 → XP_016875432.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X19

      UniProtKB/TrEMBL
      A0A804HJR1

    5. XM_017019932.3 → XP_016875421.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X11

      UniProtKB/TrEMBL
      F5GY28

    6. XM_017019949.3 → XP_016875438.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X25

      UniProtKB/TrEMBL
      A0A804HJR1

    7. XM_017019947.3 → XP_016875436.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X23

      UniProtKB/TrEMBL
      A0A804HJR1
      Related
      ENSP00000507612.1, ENST00000683840.1

    8. XM_017019950.3 → XP_016875439.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X26

      UniProtKB/TrEMBL
      A0A804HJR1

    9. XM_017019927.3 → XP_016875416.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X2

      UniProtKB/TrEMBL
      A0A804HIR0

    10. XM_017019928.3 → XP_016875417.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X4

      UniProtKB/TrEMBL
      A0A804HIR0

    11. XM_047429513.1 → XP_047285469.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X3

    12. XM_017019929.3 → XP_016875418.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X5

      UniProtKB/TrEMBL
      A0A804HIR0

    13. XM_047429514.1 → XP_047285470.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X7

    14. XM_047429515.1 → XP_047285471.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X8

    15. XM_047429516.1 → XP_047285472.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X10

    16. XM_047429517.1 → XP_047285473.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X12

    17. XM_017019930.3 → XP_016875419.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X6

      UniProtKB/TrEMBL
      A0A804HJR1

    18. XM_017019931.3 → XP_016875420.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X9

      UniProtKB/TrEMBL
      A0A804HJR1

    19. XM_047429518.1 → XP_047285474.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X13

    20. XM_017019935.3 → XP_016875424.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X15

      UniProtKB/TrEMBL
      A0A804HJR1

    21. XM_047429519.1 → XP_047285475.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X17

    22. XM_017019955.3 → XP_016875444.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X32

      UniProtKB/TrEMBL
      A0A804HJR1

    23. XM_017019933.3 → XP_016875422.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X14

      UniProtKB/TrEMBL
      A0A804HIR0

    24. XM_017019944.3 → XP_016875433.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X21

      UniProtKB/TrEMBL
      A0A804HJR1

    25. XM_017019939.3 → XP_016875428.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X18

      UniProtKB/TrEMBL
      A0A804HJR1

    26. XM_017019948.3 → XP_016875437.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X24

      UniProtKB/TrEMBL
      A0A804HJR1

    27. XM_017019945.3 → XP_016875434.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X22

      UniProtKB/TrEMBL
      A0A804HJR1

    28. XM_011521020.3 → XP_011519322.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X28

      UniProtKB/TrEMBL
      A0A804HJR1, A0A804HKC4
      Related
      ENSP00000507867.1, ENST00000683824.1
      Conserved Domains (5) summary
      pfam00520
      Location:1291 → 1542
      Ion_trans; Ion transport protein
      pfam08763
      Location:1615 → 1686
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1709 → 2141
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1550 → 1613
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:232 → 321
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    29. XM_017019954.2 → XP_016875443.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X31

      UniProtKB/TrEMBL
      A0A804HIJ8, A0A804HJR1
      Related
      ENSP00000507105.1, ENST00000682462.1

    30. XM_006719017.3 → XP_006719080.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X30

      UniProtKB/TrEMBL
      A0A804HJB6, A0A804HJR1
      Related
      ENSP00000507434.1, ENST00000683781.1
      Conserved Domains (5) summary
      pfam00520
      Location:1266 → 1517
      Ion_trans; Ion transport protein
      pfam08763
      Location:1590 → 1661
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1684 → 2116
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1525 → 1588
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:232 → 321
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    31. XM_017019953.2 → XP_016875442.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X29

      UniProtKB/TrEMBL
      A0A804HI37, A0A804HJR1
      Related
      ENSP00000506882.1, ENST00000683956.1

    32. XM_011521023.4 → XP_011519325.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X33

      UniProtKB/TrEMBL
      A0A804HKE9, F5H522
      Related
      ENSP00000336982.5, ENST00000335762.10
      Conserved Domains (5) summary
      pfam00520
      Location:1261 → 1512
      Ion_trans; Ion transport protein
      pfam08763
      Location:1585 → 1656
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:1679 → 2111
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:1520 → 1583
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl01503
      Location:202 → 291
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    33. XM_047429520.1 → XP_047285476.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X27

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654718.1 Reference GRCh38.p14 PATCHES

      Range
      311696..1046066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332286.1 → XP_054188261.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X1

    2. XM_054332301.1 → XP_054188276.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X16

    3. XM_054332305.1 → XP_054188280.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X20

    4. XM_054332304.1 → XP_054188279.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X19

    5. XM_054332296.1 → XP_054188271.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X11

    6. XM_054332310.1 → XP_054188285.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X25

    7. XM_054332308.1 → XP_054188283.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X23

    8. XM_054332311.1 → XP_054188286.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X26

    9. XM_054332287.1 → XP_054188262.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X2

    10. XM_054332289.1 → XP_054188264.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X4

    11. XM_054332288.1 → XP_054188263.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X3

    12. XM_054332290.1 → XP_054188265.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X5

    13. XM_054332292.1 → XP_054188267.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X7

    14. XM_054332293.1 → XP_054188268.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X8

    15. XM_054332295.1 → XP_054188270.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X10

    16. XM_054332297.1 → XP_054188272.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X12

    17. XM_054332291.1 → XP_054188266.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X6

    18. XM_054332294.1 → XP_054188269.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X9

    19. XM_054332298.1 → XP_054188273.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X13

    20. XM_054332300.1 → XP_054188275.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X15

    21. XM_054332302.1 → XP_054188277.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X17

    22. XM_054332317.1 → XP_054188292.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X32

    23. XM_054332299.1 → XP_054188274.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X14

    24. XM_054332306.1 → XP_054188281.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X21

    25. XM_054332303.1 → XP_054188278.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X18

    26. XM_054332309.1 → XP_054188284.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X24

    27. XM_054332307.1 → XP_054188282.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X22

    28. XM_054332313.1 → XP_054188288.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X28

      UniProtKB/TrEMBL
      A0A804HKC4

    29. XM_054332316.1 → XP_054188291.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X31

      UniProtKB/TrEMBL
      A0A804HIJ8

    30. XM_054332315.1 → XP_054188290.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X30

      UniProtKB/TrEMBL
      A0A804HJB6

    31. XM_054332314.1 → XP_054188289.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X29

      UniProtKB/TrEMBL
      A0A804HI37

    32. XM_054332318.1 → XP_054188293.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X33

      UniProtKB/TrEMBL
      F5H522

    33. XM_054332312.1 → XP_054188287.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X27

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      1965666..2703402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373150.1 → XP_054229125.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X1

    2. XM_054373165.1 → XP_054229140.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X16

    3. XM_054373169.1 → XP_054229144.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X20

    4. XM_054373168.1 → XP_054229143.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X19

    5. XM_054373160.1 → XP_054229135.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X11

    6. XM_054373174.1 → XP_054229149.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X25

    7. XM_054373172.1 → XP_054229147.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X23

    8. XM_054373175.1 → XP_054229150.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X26

    9. XM_054373151.1 → XP_054229126.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X2

    10. XM_054373153.1 → XP_054229128.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X4

    11. XM_054373152.1 → XP_054229127.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X3

    12. XM_054373154.1 → XP_054229129.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X5

    13. XM_054373156.1 → XP_054229131.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X7

    14. XM_054373157.1 → XP_054229132.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X8

    15. XM_054373159.1 → XP_054229134.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X10

    16. XM_054373161.1 → XP_054229136.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X12

    17. XM_054373155.1 → XP_054229130.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X6

    18. XM_054373158.1 → XP_054229133.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X9

    19. XM_054373162.1 → XP_054229137.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X13

    20. XM_054373164.1 → XP_054229139.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X15

    21. XM_054373166.1 → XP_054229141.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X17

    22. XM_054373181.1 → XP_054229156.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X32

    23. XM_054373163.1 → XP_054229138.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X14

    24. XM_054373170.1 → XP_054229145.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X21

    25. XM_054373167.1 → XP_054229142.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X18

    26. XM_054373173.1 → XP_054229148.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X24

    27. XM_054373171.1 → XP_054229146.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X22

    28. XM_054373177.1 → XP_054229152.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X28

      UniProtKB/TrEMBL
      A0A804HKC4

    29. XM_054373180.1 → XP_054229155.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X31

      UniProtKB/TrEMBL
      A0A804HIJ8

    30. XM_054373179.1 → XP_054229154.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X30

      UniProtKB/TrEMBL
      A0A804HJB6

    31. XM_054373178.1 → XP_054229153.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X29

      UniProtKB/TrEMBL
      A0A804HI37

    32. XM_054373182.1 → XP_054229157.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X33

      UniProtKB/TrEMBL
      F5H522

    33. XM_054373176.1 → XP_054229151.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X27

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13936.4 GenPept UniProtKB/Swiss-Prot:Q13936

    Gene LinkOut

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