Cacna1d - calcium channel, voltage-dependent, L type, alpha 1D subunit Gene

Also Known as Cach3; Cacn4; Cav1.3; Cchl1a; D-LTCC; Cchl1a2; Cacnl1a2; 8430418G19Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 12289

Summary

This gene encodes a pore-forming subunit of the L-type, voltage-activated Calcium Channel family. These channels have been found to play a role in heart and smooth muscle contraction and in the transmission of auditory information. Homozygous knockout mice for this gene exhibit deafness and heart defects. These channels have also been linked to mitochondrial oxidative stress in a mouse model of Parkinson's disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]

Cacna1d Products (3)

mRNA	Protein	Name
NM_001083616.2	NP_001077085.1	voltage-dependent L-type calcium channel subunit alpha-1D isoform 2
NM_001302637.1	NP_001289566.1	voltage-dependent L-type calcium channel subunit alpha-1D isoform 3
NM_028981.3	NP_083257.2	voltage-dependent L-type calcium channel subunit alpha-1D isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ankyrin binding	IPI IPI: Inferred from physical interaction	21859974	MGI
enables high voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	12900400	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	10468580	MGI
enables voltage-gated calcium channel activity involved SA node cell action potential	IMP IMP: Inferred from mutant phenotype	15932895	MGI
enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IDA IDA: Inferred from direct assay	10929716	MGI
enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IMP IMP: Inferred from mutant phenotype	10929716	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	16706838	MGI
acts upstream of or within calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	12700358	MGI
acts upstream of or within establishment of localization in cell	IMP IMP: Inferred from mutant phenotype	12700358	MGI
acts upstream of or within membrane depolarization during SA node cell action potential	IMP IMP: Inferred from mutant phenotype	12700358	MGI
involved in positive regulation of adenylate cyclase activity	IDA IDA: Inferred from direct assay	24086669	MGI
involved in regulation of atrial cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	17110593	MGI
acts upstream of or within regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	12700358	MGI
involved in regulation of potassium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	17110593	MGI
involved in regulation of potassium ion transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	17110593	MGI
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	17074442	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in Z disc	IDA IDA: Inferred from direct assay	17110593	MGI
is active in cochlear hair cell ribbon synapse	IDA IDA: Inferred from direct assay	10929716	MGI
is active in cochlear hair cell ribbon synapse	IMP IMP: Inferred from mutant phenotype	10929716	MGI
located in plasma membrane	IDA IDA: Inferred from direct assay	10468580	MGI
is active in presynaptic active zone membrane	IDA IDA: Inferred from direct assay	16354915	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
voltage-dependent L-type calcium channel subunit alpha-1D	Cav1.3alpha1 alpha 1 E calcium channel, L type, alpha-1 polypeptide voltage-gated calcium channel subunit alpha Cav1.3

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01794	CACNA1D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20625	Cacna1d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27134	Cacna1d Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Cacna1d	NCBI	NCBI:776