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Aliases for CACNA1D Gene

Aliases for CACNA1D Gene

  • Calcium Channel, Voltage-Dependent, L Type, Alpha 1D Subunit 2 3
  • CACNL1A2 3 4 6
  • CCHL1A2 3 4 6
  • PASNA 3 6
  • SANDD 3 6
  • CACH3 3 4
  • CACN4 3 4
  • Calcium Channel, Neuroendocrine/Brain-Type, Alpha 1 Subunit 3
  • Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1D 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 2 4
  • Voltage-Gated Calcium Channel Alpha Subunit Cav1.3 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav1.3 4
  • Voltage-Gated Calcium Channel Alpha 1 Subunit 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide 3
  • Cav1.3 3

External Ids for CACNA1D Gene

Previous HGNC Symbols for CACNA1D Gene

  • CCHL1A2
  • CACNL1A2

Previous GeneCards Identifiers for CACNA1D Gene

  • GC03P052645
  • GC03P052780
  • GC03P053383
  • GC03P053486

Summaries for CACNA1D Gene

Entrez Gene Summary for CACNA1D Gene

  • 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]

GeneCards Summary for CACNA1D Gene

CACNA1D (Calcium Channel, Voltage-Dependent, L Type, Alpha 1D Subunit) is a Protein Coding gene. Diseases associated with CACNA1D include sinoatrial node dysfunction and deafness and primary aldosteronism, seizures, and neurologic abnormalities. Among its related pathways are MAPK signaling pathway and L1CAM interactions. GO annotations related to this gene include voltage-gated calcium channel activity and alpha-actinin binding. An important paralog of this gene is SCN1A.

UniProtKB/Swiss-Prot for CACNA1D Gene

  • Voltage-sensitive calcium channels (VSCC) 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, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).

Tocris Summary for CACNA1D Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families. Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1D Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1D Gene

Genomics for CACNA1D Gene

Regulatory Elements for CACNA1D Gene

Genomic Location for CACNA1D Gene

Start:
53,494,656 bp from pter
End:
53,813,733 bp from pter
Size:
319,078 bases
Orientation:
Plus strand

Genomic View for CACNA1D Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CACNA1D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1D Gene

Proteins for CACNA1D Gene

  • Protein details for CACNA1D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01668-CAC1D_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit alpha-1D
    Protein Accession:
    Q01668
    Secondary Accessions:
    • B0FYA3
    • Q13916
    • Q13931
    • Q71UT1
    • Q9UDC3

    Protein attributes for CACNA1D Gene

    Size:
    2161 amino acids
    Molecular mass:
    245141 Da
    Quaternary structure:
    • Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Channel activity is further modulated, depending on the presence of specific delta subunit isoforms. Interacts (via IQ domain) with CABP1 and CABP4 in a calcium independent manner (By similarity). Interacts with RIMBP2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for CACNA1D Gene

    Alternative splice isoforms for CACNA1D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1D Gene

Proteomics data for CACNA1D Gene at MOPED

Post-translational modifications for CACNA1D Gene

  • Glycosylation at Asn155, Asn225, and Asn329
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1D Gene

No data available for DME Specific Peptides for CACNA1D Gene

Domains for CACNA1D Gene

Gene Families for CACNA1D Gene

HGNC:
  • CACN :Calcium channel subunits
  • CACN1 :Voltage-gated ion channels / Calcium channels
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q01668

UniProtKB/Swiss-Prot:

CAC1D_HUMAN :
  • Q01668
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1D subfamily.
genes like me logo Genes that share domains with CACNA1D: view

Function for CACNA1D Gene

Molecular function for CACNA1D Gene

GENATLAS Biochemistry: transverse tubule (TT) calcium voltage-gated channel (VDCC),L type,alpha 1D subunit,175kDa,dihydropyridine (DHP) sensitive,isoform 2,neuroendocrine/brain
UniProtKB/Swiss-Prot Function: Voltage-sensitive calcium channels (VSCC) 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, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).

Gene Ontology (GO) - Molecular Function for CACNA1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005245 voltage-gated calcium channel activity IDA 11160515
GO:0005515 protein binding --
GO:0008331 contributes_to high voltage-gated calcium channel activity IDA 1309651
GO:0030506 ankyrin binding ISS 21859974
genes like me logo Genes that share ontologies with CACNA1D: view
genes like me logo Genes that share phenotypes with CACNA1D: view

Animal Models for CACNA1D Gene

MGI Knock Outs for CACNA1D:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CACNA1D Gene

Localization for CACNA1D Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1D Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1D Gene COMPARTMENTS Subcellular localization image for CACNA1D gene
Compartment Confidence
plasma membrane 5
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CACNA1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IDA 11160515
GO:0016020 membrane --
GO:0030018 Z disc ISS --
genes like me logo Genes that share ontologies with CACNA1D: view

Pathways for CACNA1D Gene

genes like me logo Genes that share pathways with CACNA1D: view

Gene Ontology (GO) - Biological Process for CACNA1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006811 ion transport --
GO:0006816 calcium ion transport IDA 11160515
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway ISS --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with CACNA1D: view

Compounds for CACNA1D Gene

(5) Tocris Compounds for CACNA1D Gene

Compound Action Cas Number
Isradipine Ca2+ channel blocker (L-type) [75695-93-1]
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) [116666-63-8]
omega-Conotoxin GVIA Ca2+ channel blocker (N-type) [106375-28-4]
Pregabalin Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels [148553-50-8]
SNX 482 Potent and selective CaV2.3 blocker (R-type) [203460-30-4]

(2) HMDB Compounds for CACNA1D Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Verapamil
  • Akilen
52-53-9

(14) Drugbank Compounds for CACNA1D Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amlodipine
  • Amlodipine Benzenesulfonate
88150-42-9 target inhibitor
Cinnarizine
298-57-7 target inhibitor
Clevidipine
166432-28-6 target
Dronedarone
141626-36-0 target
Felodipine
  • Dl-Felodipine
72509-76-3 target inhibitor

(5) IUPHAR Ligand for CACNA1D Gene

Ligand Type Action Affinity Pubmed IDs
[3H](+)-isradipine Gating inhibitor None 11
(-)-(S)-BayK8644 Activator None
isradipine Gating inhibitor None
verapamil Inhibitor Inhibition
BAYK 8644 Activator None

(2) Novoseek inferred chemical compound relationships for CACNA1D Gene

Compound -log(P) Hits PubMed IDs
calcium 54.1 20
sodium 7.58 1
genes like me logo Genes that share compounds with CACNA1D: view

Transcripts for CACNA1D Gene

Unigene Clusters for CACNA1D Gene

Calcium channel, voltage-dependent, L type, alpha 1D subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1D Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42 ^ 43 ^ 44a · 44b ^ 45 ^ 46 ^ 47
SP1:
SP2: -
SP3:

Relevant External Links for CACNA1D Gene

GeneLoc Exon Structure for
CACNA1D
ECgene alternative splicing isoforms for
CACNA1D

Expression for CACNA1D Gene

mRNA expression in normal human tissues for CACNA1D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA1D Gene

This gene is overexpressed in Pituitary (4.4) and Adrenal Gland (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CACNA1D Gene

SOURCE GeneReport for Unigene cluster for CACNA1D Gene Hs.476358

mRNA Expression by UniProt/SwissProt for CACNA1D Gene

Q01668-CAC1D_HUMAN
Tissue specificity: Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle.
genes like me logo Genes that share expressions with CACNA1D: view

Orthologs for CACNA1D Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1D 35
  • 99.58 (n)
  • 99.76 (a)
CACNA1D 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA1D 35
  • 92.6 (n)
  • 97.47 (a)
CACNA1D 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1D 35
  • 93.36 (n)
  • 97.19 (a)
CACNA1D 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1d 35
  • 91.07 (n)
  • 97.19 (a)
Cacna1d 16
Cacna1d 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1D 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1D 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna1d 35
  • 90.36 (n)
  • 96.29 (a)
chicken
(Gallus gallus)
Aves CACNA1D 35
  • 80.48 (n)
  • 88.22 (a)
CACNA1D 36
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cacna1da 35
  • 73 (n)
  • 79.81 (a)
cacna1da 36
  • 77 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012434 35
  • 60.01 (n)
  • 63.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ca-alpha1D 35
  • 62.11 (n)
  • 65.76 (a)
Ca-alpha1D 37
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-19 35
  • 60.49 (n)
  • 64.33 (a)
nca-1 37
  • 26 (a)
unc-2 37
  • 44 (a)
egl-19 37
  • 66 (a)
Species with no ortholog for CACNA1D:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CACNA1D Gene

ENSEMBL:
Gene Tree for CACNA1D (if available)
TreeFam:
Gene Tree for CACNA1D (if available)

Paralogs for CACNA1D Gene

Selected SIMAP similar genes for CACNA1D Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CACNA1D: view

Variants for CACNA1D Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1D Gene

Q01668-CAC1D_HUMAN
A change from seven to eight ATG trinucleotide repeats, resulting in an additional N-terminal methionine, has been found in a patient with non-insulin-dependent diabetes mellitus (NIDDM)

Sequence variations from dbSNP and Humsavar for CACNA1D Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs14165 -- 53,813,381(-) TGCCC(C/T)GTCGG downstream-variant-500B
rs184323 -- 53,494,643(-) cgctc(C/T)gcgcc upstream-variant-2KB
rs219847 -- 53,499,800(-) CACAA(C/T)AGTCT intron-variant
rs312479 -- 53,494,986(-) GATTT(A/T)AAAAA upstream-variant-2KB
rs312480 -- 53,495,113(-) cgttg(A/G)ggCGG utr-variant-5-prime, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CACNA1D Gene

Variant ID Type Subtype PubMed ID
esv2673204 CNV Deletion 23128226
esv2725284 CNV Deletion 23290073
nsv3826 CNV Insertion 18451855
nsv521276 CNV Loss 19592680
nsv520027 CNV Loss 19592680
nsv876803 CNV Loss 21882294
dgv283n21 CNV Loss 19592680
nsv876804 CNV Gain 21882294

Relevant External Links for CACNA1D Gene

HapMap Linkage Disequilibrium report
CACNA1D
Human Gene Mutation Database (HGMD)
CACNA1D

Disorders for CACNA1D Gene

(2) OMIM Diseases for CACNA1D Gene (114206)

UniProtKB/Swiss-Prot

CAC1D_HUMAN
  • Sinoatrial node dysfunction and deafness (SANDD) [MIM:614896]: A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. {ECO:0000269 PubMed:21131953}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474]: A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. {ECO:0000269 PubMed:23913001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for CACNA1D Gene

Disease -log(P) Hits PubMed IDs
insulinoma 48.5 2

Relevant External Links for CACNA1D

Genetic Association Database (GAD)
CACNA1D
Human Genome Epidemiology (HuGE) Navigator
CACNA1D
genes like me logo Genes that share disorders with CACNA1D: view

Publications for CACNA1D Gene

  1. A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3. (PMID: 1664412) Chin H.M. … McBride O.W. (Genomics 1991) 2 3 23
  2. The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes. (PMID: 7557998) Yamada Y. … Seino Y. (Genomics 1995) 3 4 23
  3. Genetic polymorphisms of L-type calcium channel alpha1C and alpha1D subunit genes are associated with sensitivity to the antihypertensive effects of L-type dihydropyridine calcium-channel blockers. (PMID: 19225208) Kamide K. … Kawano Y. (Circ. J. 2009) 3 23 48
  4. Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. (PMID: 1309651) Williams M.E. … Harpold M.M. (Neuron 1992) 3 4
  5. Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells. (PMID: 1309948) Seino S. … Bell G.I. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4

Products for CACNA1D Gene

Sources for CACNA1D Gene

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