ALG1

Chr 16p13.3

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Aliases:: HMT-1, HMAT1, CDG1K, Mat-1
MANE:: ENST00000262374.10

OMIM: 605907 ↗NCBI: 56052 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ALG1 · Q9BT22

v62025-08-01

Predicted Aligned Error matrix for ALG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.1/ 100

Very high

464 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)16%
Low(50–70)1%
Very low(< 50)0%

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
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

ALG1-congenital disorder of glycosylation
0.86
congenital disorder of glycosylation
0.61
neurodegenerative disease
0.54
hereditary disease
0.51
congenital disorder of glycosylation type I
0.44
Encephalopathy
0.43
congenital nephrotic syndrome, Finnish type
0.29
focal segmental glomerulosclerosis
0.12
acute tonsillitis
0.08
pathological myopia
0.08

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

Protein function (UniProt)

Chitobiosyldiphosphodolichol beta-mannosyltransferase

Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. Catalyzes, on the cytoplasmic face of the endoplasmic reticulum, the addition of the first mannose residues to the dolichol-linked oligosaccharide chain, to produce Man1GlcNAc(2)-PP-dolichol core oligosaccharide. Man1GlcNAc(2)-PP-dolichol is a substrate for ALG2, the following enzyme in the biosynthetic pathway