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Tclin
CACNA1S
Voltage-dependent L-type calcium channel subunit alpha-1S

Protein Summary
Description
Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000362061
  • ENSP00000355192
  • ENSG00000081248

Symbol
  • CACH1
  • CACN1
  • CACNL1A3
  • MHS5
  • HOKPP
  • TTPP1
  • Cav1.1
  • HOKPP1
  • hypoPP
  • CCHL1A3
  • CACNL1A3
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
0.9
protein domain
0.85
drug
0.72
cellular component
0.69
gene perturbation
0.65


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 235.4   (req: < 5)
Gene RIFs: 34   (req: <= 3)
Antibodies: 159   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 235.4   (req: >= 5)
Gene RIFs: 34   (req: > 3)
Antibodies: 159   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 40
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drugs: 5
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Protein-Protein Interactions (193)
CACNB1
Tbio
Family:  IC
Novelty:  0.06568749
Score:  0.99
Data Source:  Reactome,STRINGDB
CACNB2
Tbio
Family:  IC
Novelty:  0.01745218
Score:  0.989
Data Source:  Reactome,STRINGDB
RYR1
Tclin
Family:  IC
Novelty:  0.00077827
Score:  0.987
Data Source:  STRINGDB
CACNA2D1
Tclin
Family:  IC
Novelty:  0.01744541
Score:  0.974
Data Source:  Reactome,STRINGDB
CACNB4
Tbio
Family:  IC
Novelty:  0.01564026
Score:  0.971
Data Source:  Reactome,STRINGDB
CACNG1
Tbio
Family:  IC
Novelty:  0.11899252
Score:  0.97
Data Source:  STRINGDB
CACNA2D2
Tclin
Family:  IC
Novelty:  0.02041017
Score:  0.965
Data Source:  Reactome,STRINGDB
CACNB3
Tbio
Family:  IC
Novelty:  0.04007679
Score:  0.959
Data Source:  Reactome,STRINGDB
CACNA2D4
Tbio
Family:  IC
Novelty:  0.02238343
Score:  0.959
Data Source:  Reactome,STRINGDB
CACNA2D3
Tbio
Family:  IC
Novelty:  0.05267262
Score:  0.948
Data Source:  Reactome,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (37)
Axon guidance (R-HSA-422475)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 8
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Axon guidance
Reactome
Cardiac conduction
Reactome
Developmental Biology
Reactome
Muscle contraction
Reactome
NCAM signaling for neurite out-growth
Name
Explore in Pharos
Explore in Source
Axon guidance
Cardiac conduction
Developmental Biology
Muscle contraction
NCAM signaling for neurite out-growth
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (12)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
glomerular filtration rate
8
2
7
5.7
95.7
creatinine measurement
3
2
3
89.2
1
1
0
1.4
81.8
appendicular lean mass
2
1
2
73.3
lymphocyte count
3
1
3
60.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
glomerular filtration rate
7
5.7
95.7
creatinine measurement
3
89.2
0
1.4
81.8
appendicular lean mass
2
73.3
lymphocyte count
3
60.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
calcium voltage-gated channel subunit alpha1 S
VGNC:11750
469635
Mouse
MGI:88294
12292
Rat
RGD:70983
682930
Dog
calcium voltage-gated channel subunit alpha1 S
VGNC:38640
490244
Horse
calcium voltage-gated channel subunit alpha1 S
VGNC:15987
100034092
Species
Name
OMA
EggNOG
Inparanoid
Chimp
calcium voltage-gated channel subunit alpha1 S
Mouse
Rat
Dog
calcium voltage-gated channel subunit alpha1 S
Horse
calcium voltage-gated channel subunit alpha1 S
Publication Statistics
PubMed Score 235.40
PubMed score by year
PubTator Score 221.32
PubTator score by year
Patents
Patents by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title