calcium voltage-gated channel subunit alpha1 S

Summary
Gene Symbol
  • CACNA1S
Organism
Homo sapiens (human)
NCBI Gene
779
PubChem
779
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Calcium channel
  • Calmodulin-binding
  • Cell membrane
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Metal-binding
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Transmembrane helix
  • Voltage-gated channel
Proteins
Displaying all 2 entries
UniProt Protein Name
Q13698
  • Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle
  • Voltage-gated calcium channel subunit alpha Cav1.1
B1ALM3
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
voltage-dependent calcium channel
Functional Category
  • E: Amino acid transport and metabolism
  • J: Translation, ribosomal structure and biogenesis
  • P: Inorganic ion transport and metabolism
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0081350 congenital myopathy 18
DOID:14452 hypokalemic periodic paralysis
DOID:8545 malignant hyperthermia

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: March 31, 2025