NOTCH3

notch receptor 3

Ensembl:
ENSG00000074181
UniProt:
Q9UM47
OMIM:
600276
Synonyms:
CADASIL, CASIL

Cilia effects upon perturbation of NOTCH3

Cilia number / % ciliated:
Unknown
Loss-of-function effect:
Shorter cilia
Overexpression effect:
Unknown

Ciliogenesis screen results (3 screens)

  • 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:
increased neutrophil cell number, improved glucose tolerance, decreased prepulse inhibition, decreased liver weight, increased red blood cell distribution width, increased spleen weight
Mouse ciliopathy phenotype:
enlarged kidney, abnormal kidney morphology, increased heart weight, increased kidney weight

Subcellular localization

cilia, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Neurogenesis & migration
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane
  • Cardiac & muscle development
  • Axon guidance & growth
  • Transcription regulation

Function

In contrast to Presenilin-2, antibodies against full-length Notch3 were brightest along the length of primary cilia, suggesting that this receptor might be enriched in the ciliary membrane (21703454).