InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CACNA1S

Summary

InnateDB Protein

IDBP-105697.5

Last Modified

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

Gene Symbol

CACNA1S

Protein Name

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

Synonyms

CACNL1A3; Cav1.1; CCHL1A3; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000355192

InnateDB Gene

IDBG-105693 (CACNA1S)

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-1S 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-1S subunit play an important role in excitation-contraction coupling in skeletal muscle.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. {ECO:0000269PubMed:17418573, ECO:0000269PubMed:18162704, ECO:0000269PubMed:19118277, ECO:0000269PubMed:7987325, ECO:0000269PubMed:8004673}. Note=The disease is caused by mutations affecting the gene represented in this entry.Malignant hyperthermia 5 (MHS5) [MIM:601887]: Autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants. {ECO:0000269PubMed:9199552}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Thyrotoxic periodic paralysis 1 (TTPP1) [MIM:188580]: A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. {ECO:0000269PubMed:15001631}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Skeletal muscle specific.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005245	voltage-gated calcium channel activity
GO:0008331	high voltage-gated calcium channel activity
GO:0046872	metal ion binding

Biological Process

GO:0001501	skeletal system development
GO:0002074	extraocular skeletal muscle development
GO:0006811	ion transport
GO:0006816	calcium ion transport
GO:0006936	muscle contraction
GO:0006941	striated muscle contraction
GO:0007029	endoplasmic reticulum organization
GO:0007411	axon guidance
GO:0007519	skeletal muscle tissue development
GO:0007520	myoblast fusion
GO:0007528	neuromuscular junction development
GO:0034765	regulation of ion transmembrane transport
GO:0043501	skeletal muscle adaptation
GO:0048741	skeletal muscle fiber development
GO:0055001	muscle cell development
GO:0055085	transmembrane transport
GO:0070509	calcium ion import
GO:0086010	membrane depolarization during action potential

Cellular Component

GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0005891	voltage-gated calcium channel complex
GO:0016020	membrane
GO:0016529	sarcoplasmic reticulum
GO:0030315	T-tubule
GO:0031674	I band

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
IPR005450 Voltage-dependent calcium channel, L-type, alpha-1S 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
PR01634

PIRSF

SMART

SM01062

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt