ALG10
Alpha-1,2-glucosyltransferase involved in N-glycosylation and congenital disorders of glycosylation
Gene Information Card
| Symbol | ALG10 |
|---|---|
| Full Name | ALG10 alpha-1,2-glucosyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 12p11.21 |
| NCBI Gene ID | 84920 ncbi.nlm.nih.gov/gene/84920 |
| Ensembl ID | ENSG00000139133 |
| UniProt ID | Q5BKT4 |
| OMIM ID | 609459 |
| HGNC ID | 23162 |
| Aliases | DIE2, KCR1, ALG10A, DIE2 (yeast homolog) |
Description
ALG10 encodes alpha-1,2-glucosyltransferase, an enzyme that catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide (LLO) precursor during N-glycosylation. This reaction is essential for proper protein folding and quality control in the endoplasmic reticulum. Mutations in ALG10 cause a subtype of congenital disorders of glycosylation (CDG), characterized by defective N-glycan assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type I (ALG10-CDG) | Deficient ALG10 activity impairs LLO biosynthesis, leading to hypoglycosylation of proteins. | OMIM #609459; ClinVar; PMID: 20533528 |
| ALG10-CDG with neurological involvement | Loss of ALG10 function disrupts neuronal glycosylation, causing developmental delay and seizures. | OMIM #609459; PMID: 20533528 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Brain | 6.5 | Medium |
| Kidney | 5.1 | Low |
| Heart | 4.8 | Low |
| Pancreas | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | nTPM from GTEx |
| HepG2 | 6.8 | nTPM from GTEx |
| K562 | 4.2 | nTPM from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1070G>A (p.Arg357His) | Missense | Rare | Reduced enzymatic activity; associated with CDG |
| c.1243C>T (p.Arg415Trp) | Missense | Rare | Loss of function; reported in ALG10-CDG |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish glucosyltransferase activity, leading to LLO truncation and hypoglycosylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006487 – protein N-linked glycosylation | • GO:0004582 – dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase activity |
| • GO:0005789 – endoplasmic reticulum membrane | • GO:0016021 – integral component of membrane |
Pathways
• KEGG hsa00510 – N-Glycan biosynthesis
• Reactome R-HSA-446203 – Asparagine N-linked glycosylation
Protein Summary
ALG10 is a 526-amino acid transmembrane protein localized to the endoplasmic reticulum membrane. It functions as a dolichyl-phosphate-glucose-dependent glucosyltransferase, transferring glucose from dolichyl-phosphate-glucose to the growing LLO. The protein is essential for the final steps of LLO assembly before transfer to nascent polypeptides.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALG10 Knockout HEK293 Cell Line | EDJ-KQ10257 | Human | 84920 | Details Get a Quote |
| ALG10B Knockout HEK293 Cell Line | EDJ-KQ10409 | Human | 144245 | Details Get a Quote |
| ALG10 Knockout A-549 Cell Line | EDJ-KQ37474 | Human | 84920 | Details Get a Quote |
| ALG10 Knockout HCT 116 Cell Line | EDJ-KQ37475 | Human | 84920 | Details Get a Quote |
| ALG10 Knockout HeLa Cell Line | EDJ-KQ37476 | Human | 84920 | Details Get a Quote |
| ALG10B Knockout A-549 Cell Line | EDJ-KQ37765 | Human | 144245 | Details Get a Quote |
| ALG10B Knockout HCT 116 Cell Line | EDJ-KQ37766 | Human | 144245 | Details Get a Quote |
| ALG10B Knockout HeLa Cell Line | EDJ-KQ37767 | Human | 144245 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
