DISC1
DISC1 scaffold protein
- 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
- Mouse ciliopathy phenotype:
- abnormal kidney morphology, cataract, enlarged heart, small kidney, abnormal heart morphology, abnormal vitreous body morphology
Subcellular localization
basal body, centrosome, cilia, transition zone
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 mainte nce 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.
Model organism evidence
Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.
PMIDs: 21945076
Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.