Homo sapiens Gene: CACNA1D
Summary
InnateDB Gene IDBG-40229.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CACNA1D
Gene Name calcium channel, voltage-dependent, L type, alpha 1D subunit
Synonyms CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2; PASNA; SANDD;
Species Homo sapiens
Ensembl Gene ENSG00000157388
Encoded Proteins
calcium channel, voltage-dependent, L type, alpha 1D subunit
calcium channel, voltage-dependent, L type, alpha 1D subunit
calcium channel, voltage-dependent, L type, alpha 1D subunit
calcium channel, voltage-dependent, L type, alpha 1D subunit
calcium channel, voltage-dependent, L type, alpha 1D subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:53494656-53813733
Strand Forward strand
Band p21.1
Transcripts
ENST00000350061 ENSP00000288133
ENST00000288139 ENSP00000288139
ENST00000422281 ENSP00000409174
ENST00000481085 ENSP00000418045
ENST00000464429
ENST00000481478 ENSP00000418014
ENST00000498251
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005515 protein binding
GO:0008331 high voltage-gated calcium channel activity
GO:0030506 ankyrin binding
GO:0046872 metal ion binding
GO:0051393 alpha-actinin binding
GO:0086007 voltage-gated calcium channel activity involved in cardiac muscle cell action potential
GO:0086059 voltage-gated calcium channel activity involved SA node cell action potential
Biological Process
GO:0006112 energy reserve metabolic process
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007411 axon guidance
GO:0007605 sensory perception of sound
GO:0034765 regulation of ion transmembrane transport
GO:0044281 small molecule metabolic process
GO:0050796 regulation of insulin secretion
GO:0051928 positive regulation of calcium ion transport
GO:0055085 transmembrane transport
GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization
GO:0070509 calcium ion import
GO:0070588 calcium ion transmembrane transport
GO:0086010 membrane depolarization during action potential
GO:0086012 membrane depolarization during cardiac muscle cell action potential
GO:0086046 membrane depolarization involved in regulation of SA node cell action potential
GO:0086052 membrane repolarization during SA node cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:1901016 regulation of potassium ion transmembrane transporter activity
GO:1901379 regulation of potassium ion transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0016020 membrane
GO:0030018 Z disc
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Integration of energy metabolism pathway
Developmental Biology pathway
NCAM signaling for neurite out-growth pathway
Adrenaline,noradrenaline inhibits insulin secretion pathway
NCAM1 interactions pathway
Axon guidance pathway
Regulation of insulin secretion pathway
Metabolism pathway
KEGG
MAPK signaling pathway pathway
Calcium signaling pathway pathway
Cardiac muscle contraction pathway
Vascular smooth muscle contraction pathway
GnRH signaling pathway pathway
Type II diabetes mellitus pathway
Carbohydrate digestion and absorption pathway
Alzheimer's disease pathway
Hypertrophic cardiomyopathy (HCM) pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Dilated cardiomyopathy pathway
INOH
GPCR Dopamine D1like receptor signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q01668
TrEMBL Q59GD8
UniProt Splice Variant
Entrez Gene 776
UniGene Hs.476358
RefSeq NM_000720 NM_001128839 NM_001128840
HUGO HGNC:1391
OMIM 114206
CCDS CCDS2872 CCDS46848 CCDS46849
HPRD
IMGT
EMBL AB209171 AC005905 AC012467 AC024149 AC132810 AF055575 D43747 EU363339 M76558 M83566
GenPept AAA35629 AAA58402 AAD08651 ABY66526 BAA07804 BAD92408
RNA Seq Atlas 776