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

    Gene ID: 776, updated on 12-Jun-2016
    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 HPRD:00247; MIM:114206; Vega:OTTHUMG00000158278
    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]
    Orthologs
    Location:
    3p14.3
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (53495049..53813151)
    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 uncharacterized LOC105377094 Neighboring gene ribosomal protein S25 pseudogene 4 Neighboring gene choline dehydrogenase Neighboring gene interleukin 17 receptor B Neighboring gene ARP8 actin-related protein 8 homolog Neighboring gene selenoprotein K

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
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    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
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    • Aldosterone synthesis and secretion, organism-specific biosystem (from KEGG)
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    • Amphetamine addiction, conserved biosystem (from KEGG)
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    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
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    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
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    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
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    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Carbohydrate digestion and absorption, organism-specific biosystem (from KEGG)
      Carbohydrate digestion and absorption, organism-specific biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
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    • Cardiac conduction, organism-specific biosystem (from REACTOME)
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    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
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    • Cholinergic synapse, organism-specific biosystem (from KEGG)
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    • Circadian entrainment, organism-specific biosystem (from KEGG)
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    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
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    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
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    • Glutamatergic synapse, conserved biosystem (from KEGG)
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    • GnRH signaling pathway, organism-specific biosystem (from KEGG)
      GnRH signaling pathway, organism-specific biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • GnRH signaling pathway, conserved biosystem (from KEGG)
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    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
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    • Insulin secretion, organism-specific biosystem (from KEGG)
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    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
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    • Muscle contraction, organism-specific biosystem (from REACTOME)
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    • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
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    • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
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    • Phase 1 - inactivation of fast Na+ channels, organism-specific biosystem (from REACTOME)
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    • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
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    • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
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    • Renin secretion, organism-specific biosystem (from KEGG)
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    Products Interactant Other Gene Complex Source Pubs Description

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cardiac conduction TAS
    Traceable Author Statement
    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 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
     
    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 
    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

    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
      5001..322417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000720.3NP_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, AC132810, AW008794, M76558, M83566
      Consensus CDS
      CCDS2872.1
      UniProtKB/Swiss-Prot
      Q01668
      UniProtKB/TrEMBL
      Q59GD8
      Related
      ENSP00000288139, OTTHUMP00000212730, ENST00000288139, OTTHUMT00000350555
      Conserved Domains (2) summary
      pfam08763
      Location:16191650
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12591483
      Ion_trans; Ion transport protein
    2. NM_001128839.2NP_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)
      AC132810, AW008794, EU363339, M76558, M83566
      Consensus CDS
      CCDS46849.1
      UniProtKB/Swiss-Prot
      Q01668
      Related
      ENSP00000409174, OTTHUMP00000212731, ENST00000422281, OTTHUMT00000350556
      Conserved Domains (2) summary
      pfam08763
      Location:15841615
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12391448
      Ion_trans; Ion transport protein
    3. NM_001128840.2NP_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, AC132810, AW008794, M76558, M83566
      Consensus CDS
      CCDS46848.1
      UniProtKB/Swiss-Prot
      Q01668
      UniProtKB/TrEMBL
      Q59GD8
      Related
      ENSP00000288133, OTTHUMP00000212732, ENST00000350061, OTTHUMT00000350557
      Conserved Domains (2) summary
      pfam08763
      Location:15991630
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12391463
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      53495049..53813151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265448.3XP_005265505.1  

      Conserved Domains (2) summary
      pfam08763
      Location:15841615
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12391448
      Ion_trans; Ion transport protein
    2. XM_011534094.2XP_011532396.1  

      Conserved Domains (2) summary
      pfam08763
      Location:16841715
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:201442
      Ion_trans; Ion transport protein
    3. XM_017007141.1XP_016862630.1  

    4. XM_017007137.1XP_016862626.1  

    5. XM_017007139.1XP_016862628.1  

    6. XM_017007142.1XP_016862631.1  

    7. XM_017007145.1XP_016862634.1  

    8. XM_017007143.1XP_016862632.1  

    9. XM_017007138.1XP_016862627.1  

    10. XM_017007140.1XP_016862629.1  

    11. XM_011534100.2XP_011532402.1  

      Conserved Domains (2) summary
      pfam08763
      Location:16491680
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:201442
      Ion_trans; Ion transport protein
    12. XM_017007144.1XP_016862633.1  

      Related
      ENSP00000418014, OTTHUMP00000212733, ENST00000481478, OTTHUMT00000350558
    13. XM_011534096.2XP_011532398.1  

      Conserved Domains (2) summary
      pfam08763
      Location:16211652
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:12761485
      Ion_trans; Ion transport protein
    14. XM_011534097.2XP_011532399.1  

      See identical proteins and their annotated locations for XP_011532399.1

      Conserved Domains (2) summary
      pfam08763
      Location:15051536
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:22263
      Ion_trans; Ion transport protein
    15. XM_011534099.2XP_011532401.1  

      Conserved Domains (2) summary
      pfam08763
      Location:13801411
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:9921244
      Ion_trans; Ion transport protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      53480800..53798135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)