Homo sapiens Gene: CACNA1C
Summary
InnateDB Gene IDBG-12068.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CACNA1C
Gene Name calcium channel, voltage-dependent, L type, alpha 1C subunit
Synonyms CACH2; CACN2; CACNL1A1; CaV1.2; CCHL1A1; LQT8; TS;
Species Homo sapiens
Ensembl Gene ENSG00000151067
Encoded Proteins
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:1970786-2697950
Strand Forward strand
Band p13.33
Transcripts
ENST00000347598 ENSP00000266376
ENST00000327702 ENSP00000329877
ENST00000344100 ENSP00000341092
ENST00000335762 ENSP00000336982
ENST00000399655 ENSP00000382563
ENST00000399649 ENSP00000382557
ENST00000399644 ENSP00000382552
ENST00000399641 ENSP00000382549
ENST00000399638 ENSP00000382547
ENST00000399637 ENSP00000382546
ENST00000399634 ENSP00000382542
ENST00000399629 ENSP00000382537
ENST00000399621 ENSP00000382530
ENST00000399617 ENSP00000382526
ENST00000399606 ENSP00000382515
ENST00000399603 ENSP00000382512
ENST00000399601 ENSP00000382510
ENST00000399597 ENSP00000382506
ENST00000399595 ENSP00000382504
ENST00000399591 ENSP00000382500
ENST00000406454 ENSP00000385896
ENST00000402845 ENSP00000385724
ENST00000480911 ENSP00000437936
ENST00000491104
ENST00000465278 ENSP00000478996
ENST00000496818 ENSP00000479274
ENST00000483136
ENST00000492150
ENST00000465934
ENST00000543114 ENSP00000445849
ENST00000616390 ENSP00000482910
ENST00000615400 ENSP00000480292
ENST00000621625 ENSP00000484796
ENST00000613940 ENSP00000483335
ENST00000620878 ENSP00000479029
ENST00000615303 ENSP00000480922
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 24 [view]
Protein-Protein 24 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0008331 high voltage-gated calcium channel activity
GO:0046872 metal ion binding
GO:0051393 alpha-actinin binding
Biological Process
GO:0006112 energy reserve metabolic process
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0006939 smooth muscle contraction
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007268 synaptic transmission
GO:0007411 axon guidance
GO:0007628 adult walking behavior
GO:0008217 regulation of blood pressure
GO:0008542 visual learning
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0017156 calcium ion-dependent exocytosis
GO:0019229 regulation of vasoconstriction
GO:0030073 insulin secretion
GO:0030252 growth hormone secretion
GO:0034765 regulation of ion transmembrane transport
GO:0035585 calcium-mediated signaling using extracellular calcium source
GO:0042593 glucose homeostasis
GO:0044281 small molecule metabolic process
GO:0046620 regulation of organ growth
GO:0050796 regulation of insulin secretion
GO:0055085 transmembrane transport
GO:0060083 smooth muscle contraction involved in micturition
GO:0060402 calcium ion transport into cytosol
GO:0070509 calcium ion import
GO:0070588 calcium ion transmembrane transport
GO:0086010 membrane depolarization during action potential
GO:0086064 cell communication by electrical coupling involved in cardiac conduction
Cellular Component
GO:0002095 caveolar macromolecular signaling complex
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030018 Z disc
GO:0043025 neuronal cell body
GO:0043198 dendritic shaft
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Integration of energy metabolism pathway
Developmental Biology pathway
NCAM signaling for neurite out-growth pathway
Adrenaline,noradrenaline inhibits insulin secretion pathway
NCAM1 interactions pathway
Axon guidance pathway
Regulation of insulin secretion pathway
Metabolism pathway
KEGG
MAPK signaling pathway pathway
Calcium signaling pathway pathway
Cardiac muscle contraction pathway
Vascular smooth muscle contraction pathway
Long-term potentiation pathway
GnRH signaling pathway pathway
Type II diabetes mellitus pathway
Alzheimer's disease pathway
Hypertrophic cardiomyopathy (HCM) pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Dilated cardiomyopathy pathway
INOH
GPCR Dopamine D1like receptor signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.690010 Hs.697137
RefSeq NM_000719 NM_001129827 NM_001129829 NM_001129830 NM_001129831 NM_001129832 NM_001129833 NM_001129834 NM_001129835 NM_001129836 NM_001129837 NM_001129838 NM_001129839 NM_001129840 NM_001129841 NM_001129842 NM_001129843 NM_001129844 NM_001129846 NM_001167623 NM_001167624 NM_001167625 NM_199460 XM_006719017
HUGO
OMIM
CCDS CCDS44787 CCDS44788 CCDS44789 CCDS44790 CCDS44791 CCDS44792 CCDS44793 CCDS44794 CCDS44795 CCDS44796 CCDS44797 CCDS44798 CCDS44799 CCDS44800 CCDS44801 CCDS53733 CCDS53734 CCDS53735 CCDS53736
HPRD 00246
IMGT
EMBL
GenPept
RNA Seq Atlas