Cacna1c
Gene Detail

Symbol Name ID

Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit MGI:103013

Synonyms

(alpha)1 subunit, Cav1.2, Cchl1a1, L-type Cav1.2

Feature Type

protein coding gene

Genetic Map

Chromosome 6

55.86 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr6:118592319-118780324 bp, - strand From Ensembl annotation of GRCm38   188006 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Cacna1c ± 2 cM)

Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1c

Human ortholog

CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit NCBI Gene ID 775
Human Synonyms: CACH2, CACN2, CACNL1A1, CaV1.2, CCHL1A1, LQT8, TS
Human Chr12:2162416-2807115 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human CACNA1C (2)

Alleles and phenotypes

All alleles(16) : Targeted(14) Gene trapped(2)
 

Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination.

 
Human Diseases Modeled Using Mouse Cacna1c (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (76 annotations)

Process	adult walking behavior, calcium ion-dependent exocytosis, ...
Component	caveolar macromolecular signaling complex, cytoplasm, ...
Function	alpha-actinin binding, calcium channel activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (19 records)
Data Summary: Results (249)    Tissues (131)    Images (94)
Theiler Stages: 15, 17, 19, 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	30
RNA in situ	24
In situ reporter (knock in)	101
Northern blot	8
Western blot	11
RT-PCR	66
RNase protection	9

cDNA source data(28)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(37) Genomic(2) cDNA(29) Primer pair(6)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000051331 (Evidence)
Entrez Gene	12288 (Evidence)
UniGene	436656
DFCI	TC1587639, TC1591466
DoTS	DT.110472898, DT.526035, DT.91335512
NIA Mouse Gene Index	U027794
International Mouse Knockout Project Status	Cacna1c

Sequences

Length	Strain/Species
genomic	ENSMUSG00000051331	Ensembl Gene Model | MGI Sequence Detail	188006	C57BL/6J
transcript	ENSMUST00000112793	Ensembl | MGI Sequence Detail	7765	Not Applicable
polypeptide	ENSMUSP00000108413	Ensembl | MGI Sequence Detail	2063	Not Applicable

All sequences(75) RefSeq(20) UniProt(17)

Polymorphisms

SNPs(4140 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	IPR005451	Voltage-dependent calcium channel, L-type, alpha-1C subunit
InterPro	IPR005446	Voltage-dependent calcium channel, L-type, alpha-1 subunit
Protein Ontology	PR:000002113	voltage-dependent L-type calcium channel subunit alpha-1C

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:188370 Blaich A, et al., Mutation of the calmodulin binding motif IQ of the L-type Ca(v)1.2 Ca2+ channel to EQ induces dilated cardiomyopathy and death. J Biol Chem. 2012 Jun 29;287(27):22616-25
All references(107)

Other accession IDs

MGD-MRK-23850