DISC1

DISC1 scaffold protein

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000162946
UniProt:
Q9NRI5
OMIM:
605210

Cilia effects upon perturbation of DISC1

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.42) 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:
abnormal spleen morphology, hyperactivity, increased prepulse inhibition

Subcellular localization

basal body, centrosome, cilia, transition zone

References: PMID:41005307

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Neurogenesis & migration
  • Protein processing & maturation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transition zone

Function

Regulation of the formation and/or maintenance of primary cilia, and establish subtype-specific targeting of dopamine receptors to the ciliary surface. Interacts with centriolar and ciliary components (20531939). Ciliogenesis and intraflagellar transport regulation through MIPT3 interaction. DISC1 is involved in plus-end and minus-end microtubular transport (28125008). DISC1 knockdown reduced the numbers of primary cilia.