calcium voltage-gated channel subunit alpha1 C

Summary
Gene Symbol
  • CACNA1C
Organism
Homo sapiens (human)
NCBI Gene
775
PubChem
775
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Autism
  • Brugada syndrome
  • Calcium channel
  • Calmodulin-binding
  • Cell membrane
  • Cell projection
  • Disease variant
  • Disulfide bond
  • Epilepsy
  • Glycoprotein
  • Host-virus interaction
  • Intellectual disability
  • Long QT syndrome
  • Metal-binding
  • Phosphoprotein
  • Postsynaptic cell membrane
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Transmembrane helix
  • Voltage-gated channel
Proteins
Displaying entries 1 - 10 of 11 in total
UniProt Protein Name
E9PDI6
Q59GU3
A0A0A0MR67
A0A804HI37
A0A804HKC4
A0A804HIJ8
A0A804HJB6
A0A0A0MSA1
F5H522
Q5V9X9
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 4 entries
DO ID Disease Name Source
DOID:0060173 Timothy syndrome
DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
DOID:0110220 Brugada syndrome 3
DOID:0110649 long QT syndrome 8

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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