COLGALT1

Chr 19p13.11

collagen beta(1-O)galactosyltransferase 1

Aliases:: FLJ22329
MANE:: ENST00000252599.9

OMIM: 617531 ↗NCBI: 79709 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

COLGALT1 · Q8NBJ5

v62025-08-01

Predicted Aligned Error matrix for COLGALT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.9/ 100

Confident

622 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)12%
Low(50–70)7%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial cerebral small vessel disease
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cerebral small vessel disease
0.73
hereditary disease
0.42
familial porencephaly
0.37
response to COVID-19 vaccine
0.18
vascular dementia
0.11
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
0.09
neoplasm
0.08
hepatocellular carcinoma
0.08
Hepatic fibrosis
0.07
digestive system disorder
0.07

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

Protein function (UniProt)

Procollagen galactosyltransferase 1

Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen (PubMed:19075007, PubMed:22216269, PubMed:27402836). By acting on collagen glycosylation, facilitates the formation of collagen triple helix (PubMed:27402836). Also involved in the biosynthesis of collagen type IV (PubMed:30412317)