SCYL1
Tier: Cilia-Associated Genes
- Ensembl:
- ENSG00000142186
- UniProt:
- Q96KG9
- OMIM:
- 607982
- Synonyms:
- GKLP, NKTL, NTKL, P105, TAPK, TEIF, TRAP, HT019, SCAR21, MGC78454
Cilia effects upon perturbation of SCYL1
- Loss-of-function effect:
- Shorter cilia
Subcellular localization
Golgi apparatus, cytosol
References: doi:10.64898/2026.06.09.731172
Function
SCY1-like pseudokinase 1; catalytically inactive kinase regulating COPI-mediated retrograde Golgi-ER protein trafficking and Golgi morphology, and a transcriptional regulator of TERT/POLB. Cilia-associated on functional grounds (Lee et al. 2026): key driver of a convergent ciliary transcriptional program downstream of schizophrenia common-risk genes; CRISPR perturbation in mouse neocortical cells significantly decreased primary cilia length. Mutations cause CALFAN/SCAR21 syndrome (low-GGT cholestasis/liver failure, cerebellar atrophy, ataxia, peripheral neuropathy). Golgi/cytosolic, not ciliary-localizing; ciliary link is functional (cilia-length phenotype).