InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CACNA1D

Summary

InnateDB Protein

IDBP-40233.7

Last Modified

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

Gene Symbol

CACNA1D

Protein Name

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

Synonyms

CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2; PASNA; SANDD;

Species

Homo sapiens

Ensembl Protein

ENSP00000288139

InnateDB Gene

IDBG-40229 (CACNA1D)

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-1D 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). {ECO:0000269PubMed:18482979}.

Subcellular Localization

Membrane {ECO:0000269PubMed:18482979}; Multi-pass membrane protein {ECO:0000269PubMed:18482979}.

Disease Associations

Sinoatrial node dysfunction and deafness (SANDD) [MIM:614896]: A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. {ECO:0000269PubMed:21131953}. Note=The disease is caused by mutations affecting the gene represented in this entry.Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474]: A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. {ECO:0000269PubMed:23913001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle. {ECO:0000269PubMed:1335101}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [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:0008331	high voltage-gated calcium channel activity
GO:0030506	ankyrin binding
GO:0046872	metal ion binding
GO:0051393	alpha-actinin binding
GO:0086007	voltage-gated calcium channel activity involved in cardiac muscle cell action potential
GO:0086059	voltage-gated calcium channel activity involved SA node cell action potential

Biological Process

GO:0006112	energy reserve metabolic process
GO:0006811	ion transport
GO:0006816	calcium ion transport
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007411	axon guidance
GO:0007605	sensory perception of sound
GO:0044281	small molecule metabolic process
GO:0050796	regulation of insulin secretion
GO:0051928	positive regulation of calcium ion transport
GO:0055085	transmembrane transport
GO:0060372	regulation of atrial cardiac muscle cell membrane repolarization
GO:0070509	calcium ion import
GO:0070588	calcium ion transmembrane transport
GO:0086010	membrane depolarization during action potential
GO:0086012	membrane depolarization during cardiac muscle cell action potential
GO:0086046	membrane depolarization involved in regulation of SA node cell action potential
GO:0086052	membrane repolarization during SA node cell action potential
GO:0086091	regulation of heart rate by cardiac conduction
GO:1901016	regulation of potassium ion transmembrane transporter activity
GO:1901379	regulation of potassium ion transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005891	voltage-gated calcium channel complex
GO:0016020	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
IPR005452 Voltage-dependent calcium channel, L-type, alpha-1D 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
PR01636

PIRSF

SMART

SM01062

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt