InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CACNA1C

Summary

InnateDB Protein

IDBP-229937.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CACNA1C

Protein Name

calcium channel, voltage-dependent, L type, alpha 1C subunit

Synonyms

CACH2; CACN2; CACNL1A1; CaV1.2; CCHL1A1; LQT8; TS;

Species

Homo sapiens

Ensembl Protein

ENSP00000382500

InnateDB Gene

IDBG-12068 (CACNA1C)

Protein Structure

UniProt Annotation

Function

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function. {ECO:0000269PubMed:12176756, ECO:0000269PubMed:17071743, ECO:0000269PubMed:7737988, ECO:0000269PubMed:8392192, ECO:0000269PubMed:9013606, ECO:0000269PubMed:9607315}.

Subcellular Localization

Membrane; Multi-pass membrane protein. Cell membrane {ECO:0000250}. Note=The interaction between RRAD and CACNB2 regulates its trafficking to the cell membrane. {ECO:0000250}.

Disease Associations

Timothy syndrome (TS) [MIM:601005]: Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism. {ECO:0000269PubMed:15454078, ECO:0000269PubMed:15863612}. Note=The disease is caused by mutations affecting the gene represented in this entry.Brugada syndrome 3 (BRGDA3) [MIM:611875]: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269PubMed:17224476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain, heart, jejunum, ovary, pancreatic beta-cells and vascular smooth muscle. Overall expression is reduced in atherosclerotic vascular smooth muscle. {ECO:0000269PubMed:12176756, ECO:0000269PubMed:17071743, ECO:0000269PubMed:8392192}.

Comments

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:0007204	positive regulation of cytosolic calcium ion concentration
GO:0007411	axon guidance
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0034765	regulation of ion transmembrane transport
GO:0035585	calcium-mediated signaling using extracellular calcium source
GO:0044281	small molecule metabolic process
GO:0050796	regulation of insulin secretion
GO:0055085	transmembrane transport
GO:0060402	calcium ion transport into cytosol
GO:0070509	calcium ion import
GO:0086010	membrane depolarization during action potential
GO:0086064	cell communication by electrical coupling involved in cardiac conduction

Cellular Component

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

Protein Structure and Domains

PDB ID

InterPro

IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
IPR005451 Voltage-dependent calcium channel, L-type, alpha-1C subunit
IPR005821 Ion transport domain
IPR013122 Polycystin cation channel, PKD1/PKD2
IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain

PFAM

PF00520
PF08016
PF08763

PRINTS

PR00167
PR01630
PR01635

PIRSF

SMART

SM01062

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt