CACNA1I

calcium voltage-gated channel subunit alpha1 I

Ensembl:
ENSG00000100346
UniProt:
Q9P0X4
OMIM:
608230
Synonyms:
CAV3.3

Cilia effects upon perturbation of CACNA1I

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased locomotor activity; abnormal spleen morphology; increased circulating chloride level; small heart; small liver
Mouse ciliopathy phenotype:
abnormal pancreas morphology; increased heart weight
Human ciliopathy phenotype:
neurodevelopmental disorder with speech impairment and with or without seizures

Ciliopathy associations

  • Juvenile Myoclonic Epilepsy

Subcellular localization

acrosome, cell junctions, plasma membrane

Functional category

  • Motile cilium & axoneme; Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in CACNA1I cause Juvenile Myoclonic Epilepsy (PMID: 39616287).