AlphaFold predicted structure
ALG11 · Q2TAA5
Mean pLDDT
91.3/ 100
Very high
492 residues
Confidence breakdown
- Very high(≥ 90)74%
- Confident(70–90)20%
- Low(50–70)5%
- Very low(< 50)1%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ALG11
Chr 13q14.3ALG11 alpha-1,2-mannosyltransferase
- Aliases:
- KIAA0266, CDG1P
- MANE:
- ENST00000521508.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Disease associations (Open Targets)
ALG11-congenital disorder of glycosylation
0.81congenital disorder of glycosylation
0.37congenital disorder of glycosylation type I
0.37Seizure
0.34placenta praevia
0.26neurodegenerative disease
0.23hereditary disease
0.19Wilson disease
0.12retinitis pigmentosa
0.06Familial exudative vitreoretinopathy
0.05
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-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 fourth and fifth mannose residues to the dolichol-linked oligosaccharide chain, to produce Man(5)GlcNAc(2)-PP-dolichol core oligosaccharide (PubMed:20080937). Man(5)GlcNAc(2)-PP-dolichol is a substrate for ALG3, the following enzyme in the biosynthetic pathway (PubMed:10581255)