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

    Gene ID: 776, updated on 3-Apr-2024

    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; AllianceGenome:HGNC:1391
    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]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Broad expression in adrenal (RPKM 4.1), lung (RPKM 2.3) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    3p21.1
    Exon count:
    55
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (53494611..53813733)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (53527880..53846976)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (53528638..53847760)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA26 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53507244-53507747 Neighboring gene Sharpr-MPRA regulatory region 2578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53528087-53528586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53528917-53529702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53529703-53530487 Neighboring gene ribosomal protein S25 pseudogene 4 Neighboring gene NANOG hESC enhancer GRCh37_chr3:53545870-53546371 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:53559857-53561056 Neighboring gene NANOG hESC enhancer GRCh37_chr3:53565752-53566253 Neighboring gene NANOG hESC enhancer GRCh37_chr3:53579614-53580115 Neighboring gene uncharacterized LOC124906242 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:53750142-53751341 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53752305-53752885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53752886-53753466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53765682-53766222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53766223-53766761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53787515-53788014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53798133-53798649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53802933-53803434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53838519-53839320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53840931-53841432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53841433-53841932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53857324-53857923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53878721-53879561 Neighboring gene Sharpr-MPRA regulatory region 239 Neighboring gene choline dehydrogenase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14469 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:53925074-53925974 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
    Aldosterone-producing adenoma with seizures and neurological abnormalities
    MedGen: C3809609 OMIM: 615474 GeneReviews: Not available
    Compare labs
    Sinoatrial node dysfunction and deafness
    MedGen: C3554018 OMIM: 614896 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cardiac muscle cell action potential involved in contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during SA node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during cardiac muscle cell action potential IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of adenylate cyclase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of atrial cardiac muscle cell membrane repolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of potassium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of L-type voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    voltage-dependent L-type calcium channel subunit alpha-1D
    Names
    calcium channel, L type, alpha-1 polypeptide
    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)

    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_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/TrEMBL
      H0Y879
      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/TrEMBL
      A0A7G9IPG1
      Related
      ENSP00000409174.2, ENST00000422281.7
      Conserved Domains (4) summary
      pfam00520
      Location:125417
      Ion_trans; Ion transport protein
      pfam08763
      Location:15321606
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16272134
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14691522
      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
      B0FYA3, Q01668, Q13916, Q13931, Q71UT1, Q9UDC3
      UniProtKB/TrEMBL
      A0A7G9IPG1
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005265448.4XP_005265505.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X14

      UniProtKB/TrEMBL
      A0A1B0GUN6, A0A7G9IPG1
      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_047448874.1XP_047304830.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X18

      Related
      ENSP00000490039.1, ENST00000636938.1
    3. XM_011534094.3XP_011532396.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X2

      UniProtKB/TrEMBL
      H0Y879
      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
    4. XM_017007144.2XP_016862633.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X8

      UniProtKB/TrEMBL
      H0Y879
      Related
      ENSP00000418014.2, ENST00000481478.2
    5. XM_017007141.2XP_016862630.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X6

      UniProtKB/TrEMBL
      A0A7G9IPG1
    6. XM_017007137.2XP_016862626.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X1

      UniProtKB/TrEMBL
      H0Y879
    7. XM_017007139.2XP_016862628.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X4

      UniProtKB/TrEMBL
      H0Y879
    8. XM_047448871.1XP_047304827.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X7

    9. XM_017007142.2XP_016862631.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X10

      UniProtKB/TrEMBL
      H0Y879
    10. XM_017007145.2XP_016862634.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X11

      UniProtKB/TrEMBL
      H0Y879
    11. XM_047448872.1XP_047304828.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X12

    12. XM_017007143.2XP_016862632.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X9

      UniProtKB/TrEMBL
      H0Y879
    13. XM_017007138.2XP_016862627.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X3

      UniProtKB/TrEMBL
      H0Y879
    14. XM_017007140.2XP_016862629.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X5

      UniProtKB/TrEMBL
      A0A7G9IPG1
    15. XM_011534100.3XP_011532402.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X19

      UniProtKB/TrEMBL
      A0A7G9IPG1
      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
    16. XM_011534096.3XP_011532398.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X13

      UniProtKB/TrEMBL
      A0A7G9IPG1
      Related
      ENSP00000489769.1, ENST00000637424.1
      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
    17. XM_047448873.1XP_047304829.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X17

      Related
      ENSP00000490889.2, ENST00000636627.2
    18. XM_011534097.3XP_011532399.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X15

      See identical proteins and their annotated locations for XP_011532399.1

      UniProtKB/TrEMBL
      H0Y879
      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
    19. XM_011534099.3XP_011532401.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X16

      UniProtKB/TrEMBL
      Q59GD8
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      53527880..53846976
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347781.1XP_054203756.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X14

      UniProtKB/TrEMBL
      A0A1B0GUN6
    2. XM_054347785.1XP_054203760.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X18

    3. XM_054347769.1XP_054203744.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X2

    4. XM_054347775.1XP_054203750.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X8

    5. XM_054347773.1XP_054203748.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X6

    6. XM_054347768.1XP_054203743.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X1

    7. XM_054347771.1XP_054203746.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X4

    8. XM_054347774.1XP_054203749.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X7

    9. XM_054347777.1XP_054203752.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X10

    10. XM_054347778.1XP_054203753.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X11

    11. XM_054347779.1XP_054203754.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X12

    12. XM_054347776.1XP_054203751.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X9

    13. XM_054347770.1XP_054203745.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X3

    14. XM_054347772.1XP_054203747.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X5

    15. XM_054347786.1XP_054203761.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X19

    16. XM_054347780.1XP_054203755.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X13

    17. XM_054347784.1XP_054203759.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X17

    18. XM_054347782.1XP_054203757.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X15

    19. XM_054347783.1XP_054203758.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X16