ALG5 (ALG5 Dolichyl-Phosphate Beta-Glucosyltransferase)
A key enzyme in N-glycosylation, associated with congenital disorders of glycosylation (CDG).
Gene Information Card
| Symbol | ALG5 |
|---|---|
| Full Name | ALG5 dolichyl-phosphate beta-glucosyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 13q13.3 |
| NCBI Gene ID | 29880 ncbi.nlm.nih.gov/gene/29880 |
| Ensembl ID | ENSG00000120697 |
| UniProt ID | Q9Y673 |
| OMIM ID | 604565 |
| HGNC ID | 20268 |
| Aliases | DIBD1, DPM1L, MGC117188 |
Description
The ALG5 gene encodes dolichyl-phosphate beta-glucosyltransferase, an enzyme that catalyzes the transfer of glucose from UDP-glucose to dolichyl-phosphate, forming dolichyl-beta-D-glucosyl phosphate. This reaction is essential for the synthesis of the lipid-linked oligosaccharide precursor required for N-glycosylation. Mutations in ALG5 cause a congenital disorder of glycosylation (ALG5-CDG, also known as CDG-Iz), characterized by neurological involvement, developmental delay, and seizures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| ALG5-CDG (Congenital Disorder of Glycosylation type Iz) | Loss-of-function mutations impair dolichyl-phosphate glucosylation, disrupting N-glycan precursor assembly and leading to hypoglycosylation of proteins. | ClinVar, OMIM |
| Epileptic encephalopathy, early infantile | Biallelic ALG5 variants cause severe neurological phenotypes including seizures and developmental delay. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Low |
| Liver | 8.5 | Low |
| Kidney | 7.1 | Low |
| Heart | 6.3 | Low |
| Testis | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K-562 | 7.5 | Low expression |
| HepG2 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.773G>A (p.Arg258His) | Missense | Rare | Reduced enzyme activity; associated with ALG5-CDG |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of translation initiation; pathogenic |
| c.1048C>T (p.Arg350*) | Nonsense | Rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ALG5 mutations are loss-of-function, reducing or abolishing glucosyltransferase activity, leading to impaired N-glycosylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004582 (dolichyl-phosphate beta-glucosyltransferase activity) | • GO:0006488 (dolichol-linked oligosaccharide biosynthetic process) |
| • GO:0016021 (integral component of membrane) | • GO:0005789 (endoplasmic reticulum membrane) |
Pathways
• KEGG hsa00510 (N-Glycan biosynthesis)
• Reactome R-HSA-446193 (Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide
• LLO))
Protein Summary
ALG5 is a 324-amino acid transmembrane protein localized to the endoplasmic reticulum membrane. It functions as a dolichyl-phosphate beta-glucosyltransferase, transferring glucose to dolichyl-phosphate. This step is critical for the assembly of the lipid-linked oligosaccharide (LLO) donor for N-glycosylation. Deficiency leads to incomplete LLO and protein hypoglycosylation, underlying ALG5-CDG.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALG5 Knockout HEK293 Cell Line | EDJ-KQ9062 | Human | 29880 | Details Get a Quote |
| ALG5 Knockout A-549 Cell Line | EDJ-KQ35522 | Human | 29880 | Details Get a Quote |
| ALG5 Knockout HCT 116 Cell Line | EDJ-KQ35523 | Human | 29880 | Details Get a Quote |
| ALG5 Knockout HeLa Cell Line | EDJ-KQ35524 | Human | 29880 | Details Get a Quote |
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