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

Gene ID: 775, updated on 19-Jul-2014
Official Symbol
CACNA1Cprovided by HGNC
Official Full Name
calcium channel, voltage-dependent, L type, alpha 1C subunitprovided by HGNC
Primary source
HGNC:1390
See related
HPRD:00246; MIM:114205
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TS; LQT8; CACH2; CACN2; CaV1.2; CCHL1A1; CACNL1A1
Summary
This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
See CACNA1C in Epigenomics, MapViewer
Location:
12p13.3
Exon count:
55
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (1970786..2697949)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (2079952..2807115)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene calcium channel, voltage-dependent, alpha 2/delta subunit 4 Neighboring gene lysosomal-associated membrane protein 1 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 940 Neighboring gene decapping mRNA 1B Neighboring gene CACNA1C antisense RNA 4 Neighboring gene CACNA1C intronic transcript 3 (non-protein coding) Neighboring gene CACNA1C antisense RNA 1 Neighboring gene ribosomal protein S6 pseudogene 18 Neighboring gene calcium channel, voltage-dependent, L type, alpha 1C subunit pseudogene Neighboring gene IQ motif and Sec7 domain 3 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2011-11-17)

ISCA Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2011-11-17)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303.
NHGRI GWA Catalog
A genome-wide association study of sleep habits and insomnia.
NHGRI GWA Catalog
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
NHGRI GWA Catalog
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association study identifies five new schizophrenia loci.
NHGRI GWA Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
NHGRI GWA Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
NHGRI GWA Catalog
Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC120730

Gene Ontology Provided by GOA

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

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 

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

mRNA and Protein(s)

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

    See proteins identical to 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
    Conserved Domains (3) summary
    pfam08763
    Location:16111642
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 498
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  2. NM_001129827.1NP_001123299.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also referred to as HLCC90, lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. This isoform (2) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34821
    Consensus CDS
    CCDS44788.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16591690
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12731523
    Blast Score: 486
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 91
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  3. NM_001129829.1NP_001123301.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also referred to as HLCC126, lacks three alternate in-frame exons and uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AY830713
    Consensus CDS
    CCDS44792.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16521683
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531497
    Blast Score: 481
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  4. NM_001129830.2NP_001123302.2  voltage-dependent L-type calcium channel subunit alpha-1C isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), also referred to as HLCC85, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    AC007618, AF465484, AK309111, KF455578, Z34822
    Consensus CDS
    CCDS53736.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16111642
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 502
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  5. NM_001129831.1NP_001123303.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), also referred to as HLCC88, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 5), compared to isoform 1. This isoform (5) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34819
    Consensus CDS
    CCDS44790.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16391670
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531503
    Blast Score: 489
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 91
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  6. NM_001129832.1NP_001123304.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), also referred to as HLCC87, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 6), compared to isoform 1. This isoform (6) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34818
    Consensus CDS
    CCDS44789.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16311662
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12731495
    Blast Score: 496
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 91
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  7. NM_001129833.1NP_001123305.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), also referred to has HLCC127, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 7), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AY830712
    Consensus CDS
    CCDS53735.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16301661
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 521
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  8. NM_001129834.1NP_001123306.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), also referred to as HLCC71, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 8), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34811
    Consensus CDS
    CCDS44793.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16301661
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 501
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  9. NM_001129835.1NP_001123307.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), also referred to has HLCC72, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 9), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z74996
    Consensus CDS
    CCDS44799.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16301661
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 503
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  10. NM_001129836.1NP_001123308.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), also referred to has HLCC89, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 10), compared to isoform 1. This isoform (10) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34820
    Consensus CDS
    CCDS44797.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16281659
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531492
    Blast Score: 500
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 91
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  11. NM_001129837.1NP_001123309.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 11

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), also referred to as HLCC73, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 11), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34812
    Consensus CDS
    CCDS44795.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16191650
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531464
    Blast Score: 510
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  12. NM_001129838.1NP_001123310.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 12

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), also referred to has HLCC74, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 12), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34813
    Consensus CDS
    CCDS44801.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16191650
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531464
    Blast Score: 512
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  13. NM_001129839.1NP_001123311.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 13

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), also referred to has HLCC125, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 13), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AY830711
    Consensus CDS
    CCDS44796.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16171648
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531462
    Blast Score: 509
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  14. NM_001129840.1NP_001123312.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 14

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), also referred to has HLCC105, lacks four alternate in-frame exons and contains an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 14), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AJ224873
    Consensus CDS
    CCDS44787.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16111642
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 499
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  15. NM_001129841.1NP_001123313.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 15

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), also referred to has HLCC69, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 15), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34809
    Consensus CDS
    CCDS44798.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16111642
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 520
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  16. NM_001129842.1NP_001123314.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 16

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), also referred to has HLCC78, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 16), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34816
    Consensus CDS
    CCDS44791.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16111642
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 518
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  17. NM_001129843.1NP_001123315.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 17

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), also referred to has HLCC77, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 17), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34815
    Consensus CDS
    CCDS44800.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16111642
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 499
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  18. NM_001129844.1NP_001123316.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 19

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19) lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 19), compared to isoform 1.
    Source sequence(s)
    AC005342, AC005866, AC007618, BC146846
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16081639
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12501472
    Blast Score: 518
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  19. NM_001129846.1NP_001123318.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 20

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20), also referred to as HLCC76, lacks four alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 20), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34814
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16001631
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531464
    Blast Score: 509
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  20. NM_001167623.1NP_001161095.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 21

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21) lacks four alternate in-frame exons and contains another alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform 21), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AF465484, L29536, Z34816
    Consensus CDS
    CCDS53734.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16111642
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 518
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  21. NM_001167624.2NP_001161096.2  voltage-dependent L-type calcium channel subunit alpha-1C isoform 22

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22) lacks two alternate in-frame exons and contains another alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform 22), compared to isoform 1.
    Source sequence(s)
    AC007618, AF465484, AK309111, KF455578, L29534, Z34816
    Consensus CDS
    CCDS53733.1
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16111642
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531475
    Blast Score: 521
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  22. NM_001167625.1NP_001161097.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 23

    Status: REVIEWED

    Description
    Transcript Variant: This variant (23) lacks five alternate in-frame exons and contains another two alternate in-frame exons compared to variant 1, resulting in a shorter protein (isoform 23), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AF465484, L29529, Z34814
    UniProtKB/Swiss-Prot
    Q13936
    Conserved Domains (3) summary
    pfam08763
    Location:16001631
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12531464
    Blast Score: 513
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  23. NM_199460.3NP_955630.3  voltage-dependent L-type calcium channel subunit alpha-1C isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also referred to as HFCC, encodes the longest isoform (1). This isoform (1) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AB209016, AC007618, AF465484, AK309111, AY562395, KF455578, L29534, L29536, Z34816, Z34822
    UniProtKB/Swiss-Prot
    Q13936
    UniProtKB/TrEMBL
    Q59GU3
    UniProtKB/TrEMBL
    Q5V9X9
    Conserved Domains (3) summary
    pfam08763
    Location:16591690
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12731523
    Blast Score: 489
    Ion_trans; Ion transport protein
    cl01503
    Location:202291
    Blast Score: 92
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

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

mRNA and Protein(s)

  1. XM_006719017.1XP_006719080.1  

    Conserved Domains (3) summary
    pfam08763
    Location:16411672
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:12831505
    Blast Score: 498
    Ion_trans; Ion transport protein
    cl01503
    Location:232321
    Blast Score: 91
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  2. XM_006719015.1XP_006719078.1  

    Conserved Domains (2) summary
    pfam08763
    Location:13781409
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:9731223
    Blast Score: 508
    Ion_trans; Ion transport protein
  3. XM_006719016.1XP_006719079.1  

    Conserved Domains (2) summary
    pfam08763
    Location:932963
    Blast Score: 176
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:527777
    Blast Score: 505
    Ion_trans; Ion transport protein

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    2016425..2664566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

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