Relevance to Autism

Two de novo missense variants that were predicted in silico to be damaging were identified in the CSNK1E gene in ASD probands from the Autism Sequencing Consortium in De Rubeis et al., 2014. TADA-Denovo analysis using a combined dataset of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium, as well as a novel cohort of 262 Japanese ASD trios, in Takata et al., 2018 identified CSNK1E as a gene significantly enriched in damaging de novo mutations in ASD cases (pBH < 0.05). Functional studies in Drosophila (Kloss et al., 1998), Syrian hamsters (Lowrey et al., 2000), and mice (Meng et al., 2008) have demonstrated a role for CSNK1E in circadian rhythms.

Molecular Function

The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein.

External Links

References

Model Summary

Important functional differences between Csnk1d and Csnk1e.

References