Cacna1d
Gene Detail

Symbol Name ID

Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit MGI:88293

Synonyms

8430418G19Rik, C79217, Cacnl1a2, Cav1.3alpha1, Cchl1a, Cchl1a2, D-LTCC

Feature Type

protein coding gene

Genetic Map

Chromosome 14

18.43 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(13)

Sequence Map

Chr14:30039949-30491156 bp, - strand From Ensembl annotation of GRCm38   451208 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:578  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1d

Human homologs

Human Homolog		CACNA1D, calcium channel, voltage-dependent, L type, alpha 1D subunit
NCBI Gene ID		776
neXtProt AC		NX_Q01668
Human Synonyms		CACH3, CACN4, CACNL1A2, Cav1.3, CCHL1A2, SANDD
Human Chr (Location)		3p14.3; chr3:53529031-53846492 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CACNA1D

Alleles and phenotypes

All alleles(11) : Targeted(5) Gene trapped(6)
 

Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia.

 

Gene Ontology (GO) classifications

All GO classifications: (54 annotations)

Process	adenylate cyclase-modulating G-protein coupled receptor signaling pathway, calcium ion import, ...
Component	apical plasma membrane, dendrite, ...
Function	alpha-actinin binding, ankyrin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (17 records)
Data Summary: Results (138)    Tissues (38)    Images (29)
Theiler Stages: 15, 20, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	109
Western blot	4
RT-PCR	25

cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(23) cDNA(17) Primer pair(5) Other(1)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000015968 (Evidence)
Entrez Gene	12289 (Evidence)
NIA Mouse Gene Index	U035355
Consensus CDS Project	CCDS36846.1, CCDS36847.1
International Mouse Knockout Project Status	Cacna1d

Sequences

Length	Strain/Species
genomic	ENSMUSG00000015968	Ensembl Gene Model | MGI Sequence Detail	451208	C57BL/6J
transcript	ENSMUST00000112250	Ensembl | MGI Sequence Detail	8680	Not Applicable
polypeptide	ENSMUSP00000107869	Ensembl | MGI Sequence Detail	2166	Not Applicable

All sequences(31) RefSeq(4) UniProt(3)

Polymorphisms

RFLP(3) : SNPs(1822 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR005821	Ion transport domain
InterPro	IPR002077	Voltage-dependent calcium channel, alpha-1 subunit
InterPro	IPR014873	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
InterPro	IPR005452	Voltage-dependent calcium channel, L-type, alpha-1D subunit
InterPro	IPR005446	Voltage-dependent calcium channel, L-type, alpha-1 subunit
InterPro	IPR027359	Voltage-dependent potassium channel, four helix bundle domain
Protein Ontology	PR:000002114	voltage-dependent L-type calcium channel subunit alpha-1D

References

(Earliest) J:26177 Perez-Reyes E, et al., Molecular diversity of L-type calcium channels. Evidence for alternative splicing of the transcripts of three non-allelic genes. J Biol Chem. 1990 Nov 25;265(33):20430-6
(Latest) J:193641 Nakano Y, et al., A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. PLoS Genet. 2012;8(10):e1002966
All references(100)

Other accession IDs

MGD-MRK-1798, MGD-MRK-1799, MGD-MRK-18686, MGI:1921774, MGI:2145861