CSNK1A1

Chr 5

casein kinase 1 alpha 1

Also known as: CK1, CK1a, CKIa, HEL-S-77p, HLCDGP1, PRO2975

NCBI Gene: 1452 ENSG00000113712 UniProt: P48729

The CSNK1A1 protein is a serine/threonine kinase that phosphorylates numerous substrates and participates in Wnt signaling, chromosome segregation during mitosis, and keratin cytoskeleton regulation. This gene is highly constrained against loss-of-function variants (pLI 0.998, LOEUF 0.215), but no established human disease phenotypes have been reported in association with CSNK1A1 mutations. Given its essential cellular functions and extreme intolerance to loss-of-function variation, pathogenic variants would likely affect fundamental developmental or neurological processes.

ResearchSummary from RefSeq, UniProt

Enables protein serine/threonine kinase activity. Involved in several processes, including intermediate filament cytoskeleton organization; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and regulation of signal transduction. Located in cytoskeleton; cytosol; and nucleus. Part of beta-catenin destruction complex. Biomarker of Alzheimer's disease and inclusion body myositis. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.21

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429