AlphaFold predicted structure
CHKA · P35790
Mean pLDDT
82.3/ 100
Confident
457 residues
Confidence breakdown
- Very high(≥ 90)69%
- Confident(70–90)7%
- Low(50–70)3%
- Very low(< 50)21%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CHKA
Chr 11q13.2choline kinase alpha
- Aliases:
- CKI
- MANE:
- ENST00000265689.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
0.68microcephaly
0.60Seizure
0.60Intellectual disability
0.50Global developmental delay
0.50Short stature
0.50Abnormal muscle tone
0.50Abnormality of movement
0.50short stature due to GHSR deficiency
0.50neurodegenerative disease
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Choline kinase alpha
Plays a key role in phospholipid biosynthesis by catalyzing the phosphorylation of free choline to phosphocholine, the first step in phosphatidylcholine biosynthesis (PubMed:17007874, PubMed:19915674, PubMed:23416529, PubMed:34077757). Also phosphorylates ethanolamine, thereby contributing to phosphatidylethanolamine biosynthesis (PubMed:17007874, PubMed:19915674). Has higher activity with choline (PubMed:17007874, PubMed:19915674). May contribute to tumor cell growth (PubMed:19915674)
Diseases associated with CHKA
Curated MONDO disease pages that list CHKA among their top associated genes.