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Gene: CACNA1D (calcium voltage-gated channel subunit alpha1 D) Homo sapiens
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Symbol: CACNA1D
Name: calcium voltage-gated channel subunit alpha1 D
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CACH3; CACN4; CACNL1A2; 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; Cav1.3; CCHL1A2; PASNA; SANDD; voltage-dependent L-type calcium channel subunit alpha-1D; voltage-gated calcium channel alpha 1 subunit; voltage-gated calcium channel alpha subunit Cav1.3; voltage-gated calcium channel subunit alpha Cav1.3
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38353,494,611 - 53,813,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37353,529,076 - 53,847,179 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36353,504,116 - 53,821,001 (+)NCBINCBI36hg18NCBI36
Build 34353,504,115 - 53,821,001NCBI
Celera353,496,179 - 53,813,773 (+)NCBI
Cytogenetic Map3p21.1NCBI
HuRef353,577,566 - 53,895,012 (+)NCBIHuRef
CHM1_1353,480,800 - 53,798,135 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CACNA1D
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 735457
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.