Cacna1a - calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Gene

Mus musculus

Also known as BI; la; tg; EA2; FHM; MHP; rkr; APCA; HPCA; MHP1; SCA6; smrl; Caca1a; Cav2.1; Ccha1a; nmf352; alpha1A; Cacnl1a4

Gene ID: 12286 | Gene type: protein coding

About Cacna1a

Summary

Enables high voltage-gated Calcium Channel activity and voltage-gated Calcium Channel activity involved in regulation of presynaptic cytosolic calcium levels. Acts upstream of or within several processes, including cellular ion homeostasis; chemical synaptic transmission; and nervous system development. Located in dendrite and neuronal cell body. Part of voltage-gated Calcium Channel complex. Is active in glutamatergic synapse. Is expressed in several structures, including central nervous system; dorsal root ganglion; heart; and trigeminal nerve. Used to study Lambert-Eaton myasthenic syndrome; brain disease (multiple); and episodic ataxia type 2. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 42; hereditary ataxia (multiple); and migraine (multiple). Orthologous to human CACNA1A (calcium voltage-gated channel subunit alpha1 A). [provided by Alliance of Genome Resources, Apr 2022]

Cacna1a Products(4)

mRNA	Protein	Name
NM_001252059.1	NP_001238988.1	voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 2
NM_001252060.1	NP_001238989.1	voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 3
NM_001252061.1	NP_001238990.1	voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 4
NM_007578.3	NP_031604.3	voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables high voltage-gated calcium channel activity	IGI IGI: Inferred from genetic interaction	11756409	MGI
enables high voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	9742139	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	1370480	MGI
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	8632762	MGI
enables voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	9614225	MGI
enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IDA IDA: Inferred from direct assay	25741235	MGI
enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IMP IMP: Inferred from mutant phenotype	25741235	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within adult walking behavior	IGI IGI: Inferred from genetic interaction	8719807	MGI
acts upstream of or within adult walking behavior	IMP IMP: Inferred from mutant phenotype	4799944	MGI
acts upstream of or within behavioral response to pain	IMP IMP: Inferred from mutant phenotype	16890369	MGI
acts upstream of or within calcium ion transport	IMP IMP: Inferred from mutant phenotype	9614225	MGI
acts upstream of or within calcium ion-regulated exocytosis of neurotransmitter	IMP IMP: Inferred from mutant phenotype	10670432	MGI
acts upstream of or within calcium-ion regulated exocytosis	IMP IMP: Inferred from mutant phenotype	12065603	MGI
acts upstream of or within central nervous system neuron differentiation	IMP IMP: Inferred from mutant phenotype	6945603	MGI
acts upstream of or within cerebellar Purkinje cell differentiation	IMP IMP: Inferred from mutant phenotype	1306163	MGI
acts upstream of or within cerebellar Purkinje cell layer development	IMP IMP: Inferred from mutant phenotype	1306163	MGI
acts upstream of or within cerebellar molecular layer development	IMP IMP: Inferred from mutant phenotype	7697385	MGI
acts upstream of or within cerebellum maturation	IMP IMP: Inferred from mutant phenotype	11344116	MGI
acts upstream of or within chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	10611370	MGI
acts upstream of or within dendrite morphogenesis	IMP IMP: Inferred from mutant phenotype	10336181	MGI
acts upstream of or within establishment of localization in cell	IMP IMP: Inferred from mutant phenotype	9614225	MGI
acts upstream of or within gamma-aminobutyric acid secretion	IMP IMP: Inferred from mutant phenotype	10670432	MGI
acts upstream of or within gamma-aminobutyric acid signaling pathway	IMP IMP: Inferred from mutant phenotype	8565963	MGI
acts upstream of or within glucose homeostasis	IMP IMP: Inferred from mutant phenotype	8957685	MGI
acts upstream of hormone biosynthetic process	IMP IMP: Inferred from mutant phenotype	11182254	MGI
acts upstream of or within intracellular chloride ion homeostasis	IMP IMP: Inferred from mutant phenotype	8565963	MGI
acts upstream of or within membrane depolarization	IMP IMP: Inferred from mutant phenotype	8158221	MGI
acts upstream of or within musculoskeletal movement, spinal reflex action	IMP IMP: Inferred from mutant phenotype	11718712	MGI
acts upstream of or within negative regulation of hormone biosynthetic process	IMP IMP: Inferred from mutant phenotype	11182254	MGI
acts upstream of or within negative regulation of neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	4941467	MGI
acts upstream of or within nervous system process	IMP IMP: Inferred from mutant phenotype	1486501	MGI
acts upstream of or within neuromuscular process	IGI IGI: Inferred from genetic interaction	10630211	MGI
acts upstream of or within neuromuscular process	IMP IMP: Inferred from mutant phenotype	11344116	MGI
acts upstream of or within neuromuscular process controlling balance	IMP IMP: Inferred from mutant phenotype	4799944	MGI
acts upstream of or within neuromuscular synaptic transmission	IMP IMP: Inferred from mutant phenotype	10686170	MGI
acts upstream of neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	4941467	MGI
acts upstream of or within neuron cellular homeostasis	IMP IMP: Inferred from mutant phenotype	10899223	MGI
acts upstream of or within neuron-neuron synaptic transmission	IMP IMP: Inferred from mutant phenotype	16540584	MGI
acts upstream of or within positive regulation of cytosolic calcium ion concentration	IDA IDA: Inferred from direct assay	8632762	MGI
acts upstream of or within receptor clustering	IMP IMP: Inferred from mutant phenotype	12624181	MGI
acts upstream of or within regulation of acetylcholine secretion, neurotransmission	IMP IMP: Inferred from mutant phenotype	10686170	MGI
acts upstream of or within regulation of axonogenesis	IMP IMP: Inferred from mutant phenotype	572084	MGI
acts upstream of or within regulation of calcium ion-dependent exocytosis	IDA IDA: Inferred from direct assay	8632762	MGI
acts upstream of or within regulation of hormone levels	IMP IMP: Inferred from mutant phenotype	8229069	MGI
acts upstream of or within regulation of membrane potential	IMP IMP: Inferred from mutant phenotype	1355109	MGI
acts upstream of or within regulation of sulfur amino acid metabolic process	IMP IMP: Inferred from mutant phenotype	1485534	MGI
acts upstream of or within response to pain	IMP IMP: Inferred from mutant phenotype	11718712	MGI
acts upstream of or within rhythmic synaptic transmission	IMP IMP: Inferred from mutant phenotype	16474392	MGI
acts upstream of or within spinal cord motor neuron differentiation	IMP IMP: Inferred from mutant phenotype	17156092	MGI
acts upstream of or within synapse assembly	IMP IMP: Inferred from mutant phenotype	10336181	MGI
NOT acts upstream of or within synaptic transmission, GABAergic	IMP IMP: Inferred from mutant phenotype	10322048	MGI
acts upstream of or within synaptic transmission, glutamatergic	IMP IMP: Inferred from mutant phenotype	10322048	MGI
acts upstream of or within transmission of nerve impulse	IMP IMP: Inferred from mutant phenotype	1355109	MGI
acts upstream of or within vestibular nucleus development	IMP IMP: Inferred from mutant phenotype	8719615	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in dendrite	IDA IDA: Inferred from direct assay	15451373	MGI
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	25741235	MGI
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	25741235	MGI
located in neuronal cell body	IDA IDA: Inferred from direct assay	15451373	MGI
is active in postsynaptic membrane	IDA IDA: Inferred from direct assay	15090043	MGI
is active in presynaptic active zone membrane	IDA IDA: Inferred from direct assay	15090043	MGI
part of voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	10328888	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 P/Q-type calcium channel subunit alpha-1A

brain calcium channel I	calcium channel, L type, alpha-1 polypeptide
leaner	rocker
tottering	voltage-gated calcium channel subunit alpha Cav2.1

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01791	CACNA1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS21232	Cacna1a Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Cacna1a	NCBI	NCBI:773

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