DOLK

Chr 9q34.11

dolichol kinase

Aliases:: KIAA1094, DK1
MANE:: ENST00000372586.4

OMIM: 610746 ↗NCBI: 22845 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DOLK · Q9UPQ8

v62025-08-01

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

Mean pLDDT

90.1/ 100

Very high

538 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)21%
Low(50–70)3%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

DK1-congenital disorder of glycosylation
0.81
Abnormality of the cardiovascular system
0.52
congenital disorder of glycosylation
0.37
familial isolated dilated cardiomyopathy
0.37
SRD5A3-congenital disorder of glycosylation
0.37
congenital disorder of glycosylation type I
0.37
dilated cardiomyopathy
0.12
hypertrophic cardiomyopathy 26
0.12
male reproductive organ cancer
0.04
hyperinsulinemic hypoglycemia, familial, 4
0.03

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

Protein function (UniProt)

Dolichol kinase

Catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate (Dol-P) biosynthesis (PubMed:12213788, PubMed:16923818, PubMed:17273964, PubMed:22242004). Dol-P is a lipid carrier essential for the synthesis of N-linked and O-linked oligosaccharides and for GPI anchors (PubMed:12213788)