Format

Send to:

Choose Destination

CACNA1D calcium voltage-gated channel subunit alpha1 D [ Homo sapiens (human) ]

Gene ID: 776, updated on 13-Mar-2020

Summary

Official Symbol
CACNA1Dprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Dprovided by HGNC
Primary source
HGNC:HGNC:1391
See related
Ensembl:ENSG00000157388 MIM:114206
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
CACH3; CACN4; PASNA; SANDD; Cav1.3; CCHL1A2; CACNL1A2
Summary
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Expression
Broad expression in adrenal (RPKM 4.1), lung (RPKM 2.3) and 16 other tissues See more
Orthologs

Genomic context

See CACNA1D in Genome Data Viewer
Location:
3p21.1
Exon count:
53
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (53494611..53813733)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (53529076..53847179)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2578 Neighboring gene ribosomal protein S25 pseudogene 4 Neighboring gene choline dehydrogenase Neighboring gene interleukin 17 receptor B Neighboring gene actin related protein 8 Neighboring gene selenoprotein K

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
Primary aldosteronism, seizures, and neurologic abnormalities
MedGen: C3809609 OMIM: 615474 GeneReviews: Not available
Compare labs
Sinoatrial node dysfunction and deafness
MedGen: C3554018 OMIM: 614896 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
NHGRI GWA Catalog
Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
NHGRI GWA Catalog
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
NHGRI GWA Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adenylate cyclase-modulating G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion import IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transport IDA
Inferred from Direct Assay
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 
induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
membrane depolarization during SA node cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane depolarization during cardiac muscle cell action potential IC
Inferred by Curator
more info
PubMed 
positive regulation of adenylate cyclase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of atrial cardiac muscle cell membrane repolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
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 potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of potassium ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
cochlear hair cell ribbon synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
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-1D
Names
calcium channel, L type, alpha-1 polypeptide, isoform 2
calcium channel, neuroendocrine/brain-type, alpha 1 subunit
calcium channel, voltage-dependent, L type, alpha 1D subunit
voltage-gated calcium channel alpha 1 subunit
voltage-gated calcium channel alpha subunit Cav1.3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032999.1 RefSeqGene

    Range
    4563..323685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000720.4NP_000711.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform a

    See identical proteins and their annotated locations for NP_000711.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB209171, AC005905, AC012467, AC132810, AW008794, M76558, M83566
    Consensus CDS
    CCDS2872.1
    UniProtKB/Swiss-Prot
    Q01668
    UniProtKB/TrEMBL
    Q59GD8
    Related
    ENSP00000288139.3, ENST00000288139.11
    Conserved Domains (4) summary
    pfam00520
    Location:12421495
    Ion_trans; Ion transport protein
    pfam08763
    Location:15681639
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16632178
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15031566
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. NM_001128839.3NP_001122311.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform c

    See identical proteins and their annotated locations for NP_001122311.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform c), compared to isoform a.
    Source sequence(s)
    AC005905, AC012467, AC132810, AW008794, EU363339, M76558, M83566
    Consensus CDS
    CCDS46849.1
    UniProtKB/Swiss-Prot
    Q01668
    Related
    ENSP00000409174.2, ENST00000422281.7
    Conserved Domains (4) summary
    pfam00520
    Location:12221460
    Ion_trans; Ion transport protein
    pfam08763
    Location:15331604
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16282134
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14681531
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  3. NM_001128840.3NP_001122312.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform b

    See identical proteins and their annotated locations for NP_001122312.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AB209171, AC005905, AC012467, AC132810, AW008794, M76558, M83566
    Consensus CDS
    CCDS46848.1
    UniProtKB/Swiss-Prot
    Q01668
    UniProtKB/TrEMBL
    Q59GD8
    Related
    ENSP00000288133.5, ENST00000350061.11
    Conserved Domains (4) summary
    pfam00520
    Location:12221475
    Ion_trans; Ion transport protein
    pfam08763
    Location:15481619
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16432158
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14831546
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    53494611..53813733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265448.3XP_005265505.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X12

    UniProtKB/TrEMBL
    A0A1B0GUN6
    Related
    ENSP00000490183.1, ENST00000636570.1
    Conserved Domains (4) summary
    pfam00520
    Location:12221460
    Ion_trans; Ion transport protein
    pfam08763
    Location:15331604
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16282143
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14681531
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. XM_011534094.2XP_011532396.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X2

    Conserved Domains (4) summary
    pfam00520
    Location:180454
    Ion_trans; Ion transport protein
    pfam08763
    Location:16331704
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:17282243
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15681631
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  3. XM_017007141.1XP_016862630.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X6

  4. XM_017007137.1XP_016862626.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X1

  5. XM_017007139.1XP_016862628.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X4

  6. XM_017007142.1XP_016862631.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X7

  7. XM_017007145.1XP_016862634.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X10

  8. XM_017007143.1XP_016862632.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X8

  9. XM_017007138.1XP_016862627.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X3

  10. XM_017007140.1XP_016862629.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X5

  11. XM_011534100.2XP_011532402.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X15

    Conserved Domains (4) summary
    pfam00520
    Location:180454
    Ion_trans; Ion transport protein
    pfam08763
    Location:15981669
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16932208
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15331596
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  12. XM_017007144.1XP_016862633.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X9

    Related
    ENSP00000418014.1, ENST00000481478.1
  13. XM_011534096.2XP_011532398.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X11

    Conserved Domains (4) summary
    pfam00520
    Location:12591497
    Ion_trans; Ion transport protein
    pfam08763
    Location:15701641
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16652180
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15051568
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  14. XM_011534097.2XP_011532399.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X13

    See identical proteins and their annotated locations for XP_011532399.1

    Conserved Domains (4) summary
    pfam00520
    Location:14275
    Ion_trans; Ion transport protein
    pfam08763
    Location:14541525
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:15492064
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:13891452
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  15. XM_011534099.2XP_011532401.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X14

    Conserved Domains (4) summary
    pfam00520
    Location:9751256
    Ion_trans; Ion transport protein
    pfam08763
    Location:13291400
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:14241939
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:12641327
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
Support Center