UGGT1

Chr 2q14.3

UDP-glucose glycoprotein glucosyltransferase 1

Aliases:: HUGT1
MANE:: ENST00000259253.11

OMIM: 605897 ↗NCBI: 56886 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

UGGT1 · Q9NYU2

v62025-08-01

Predicted Aligned Error matrix for UGGT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.5/ 100

Confident

1,555 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)46%
Low(50–70)5%
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)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
DDG2P
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
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital disorder of glycosylation
0.42
hypercholesterolemia, familial, 1
0.33
connective tissue disorder
0.27
chronic laryngitis
0.26
ovarian dysfunction
0.21
cervical carcinoma
0.08
infection
0.08
early-onset non-syndromic cataract
0.07
retinitis pigmentosa
0.07
Senior-Loken syndrome
0.07

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

Protein function (UniProt)

UDP-glucose:glycoprotein glucosyltransferase 1

Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation