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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: 208.17   (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: 208.17   (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
GWAS Traits (9)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
glomerular filtration rate
5
1
4
5.7
79.1
1
1
0
1.4
74.7
lymphocyte count
2
1
2
72.3
appendicular lean mass
2
1
2
67.1
creatinine measurement
2
1
2
50.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
glomerular filtration rate
4
5.7
79.1
0
1.4
74.7
lymphocyte count
2
72.3
appendicular lean mass
2
67.1
creatinine measurement
2
50.6
Protein Data Bank (2)
1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (37)
Axon guidance (R-HSA-422475)

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

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
Protein-Protein Interactions (193)
1 – 10 of 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
Publication Statistics
PubMed Score  208.17

PubMed score by year
PubTator Score  221.32

PubTator score by year
Patents
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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