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

Gene ID: 775, updated on 2-Mar-2021

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
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Genomic context

See CACNA1C in Genome Data Viewer
Location:
12p13.33
Exon count:
56
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (1969552..2697950)
105.20201022 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 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 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: CACNA1C-Related Disorders
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 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)

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_000719.7NP_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 109.20210226

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)
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