CSNK1G1

Chr 15q22.31

casein kinase 1 gamma 1

Aliases:: CK1gamma1
MANE:: ENST00000303052.13

OMIM: 606274 ↗NCBI: 53944 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CSNK1G1 · Q9HCP0

v62025-08-01

Predicted Aligned Error matrix for CSNK1G1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.5/ 100

Confident

422 residues

Confidence breakdown

Very high(≥ 90)66%
Confident(70–90)5%
Low(50–70)2%
Very low(< 50)28%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Global developmental delay
0.37
Abnormality of the face
0.37
Intellectual disability
0.37
autism
0.37
Seizure
0.37
Abnormality of limbs
0.37
neurodegenerative disease
0.25
bronchiectasis
0.24
neurodevelopmental disorder
0.12
neoplasm
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Casein kinase I isoform gamma-1

Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN