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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ALG5
ALG5 dolichyl-phosphate beta-glucosyltransferase
Chromosome 13 Β· 13q13.3
NCBI Gene: 29880Ensembl: ENSG00000120697.11HGNC: HGNC:20266UniProt: Q9Y673
51PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membraneprotein bindingprotein N-linked glycosylationdolichol-linked oligosaccharide biosynthetic processpolycystic kidney disease 7Autosomal dominant polycystic kidney diseaseneurodegenerative diseaseinsomnia
✦AI Summary

ALG5 encodes dolichyl-phosphate beta-glucosyltransferase, a key enzyme in the N-glycosylation pathway 1. Operating on the cytoplasmic side of the endoplasmic reticulum membrane, ALG5 catalyzes glucose addition to dolichol-linked oligosaccharide precursors, producing dolichyl-beta-D-glucosyl phosphate as a substrate for downstream glycosyltransferases (ALG6, ALG8, ALG10) 1. This process is essential for synthesizing the 14-sugar Glc(3)Man(9)GlcNAc(2)-PP-Dol structure ultimately transferred to nascent proteins by oligosaccharyltransferases. Clinically, monoallelic ALG5 variants cause atypical polycystic kidney disease with small renal cysts, interstitial fibrosis, and progressive renal failure (reaching end-stage disease between 62-91 years) 2. ALG5 haploinsufficiency impairs polycystin-1 maturation and membrane localization, demonstrating how reduced ALG5 activity compromises protein N-glycosylation in renal epithelial cells 2. In bone metabolism, ALG5 downregulation associates with osteoporosis by impairing osteogenic differentiation through reduced N-glycosylation of SLC6A9, which decreases glycine uptake in mesenchymal stem cells 3. Additionally, ALG5 and STT3A upregulation in aged hippocampus sustains glucose homeostasis and cognitive function through N-glycosylation-dependent metabolic adaptation 4. ALG5 also functions as a host factor required for transmissible gastroenteritis virus infection through N-glycosylation of aminopeptidase N 5.

Sources cited
1
ALG5 catalyzes glucose addition in N-glycosylation pathway and dolichol-linked oligosaccharide synthesis mechanism
PMID: 40902550
2
Monoallelic ALG5 variants cause atypical polycystic kidney disease with kidney cysts and interstitial fibrosis; ALG5 haploinsufficiency impairs polycystin-1 maturation
PMID: 35896117
3
ALG5 identified as minor locus for polycystic kidney disease with age at kidney failure similar to PKD2
PMID: 38097330
4
ALG5 downregulation in osteoporosis inhibits osteogenesis by reducing N-glycosylation of SLC6A9
PMID: 39760914
5
ALG5 upregulation in aged hippocampus regulates N-glycosylation-dependent metabolic adaptation and glucose homeostasis
PMID: 40908792
6
ALG5 required for transmissible gastroenteritis virus infection through N-glycosylation of aminopeptidase N
PMID: 41205942
7
SMAD5 upregulates ALG5 to promote osteogenic differentiation and alleviate osteoporosis development
PMID: 39588532
Disease Associationsβ“˜21
polycystic kidney disease 7Open Targets
0.60Moderate
Autosomal dominant polycystic kidney diseaseOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.34Weak
insomniaOpen Targets
0.14Weak
alcohol drinkingOpen Targets
0.04Suggestive
Methicillin-Resistant Staphylococcus Aureus InfectionOpen Targets
0.04Suggestive
osteoporosis-pseudoglioma syndromeOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
lumbar disc herniationOpen Targets
0.02Suggestive
Palmar FibromatosisOpen Targets
0.02Suggestive
osteoporosisOpen Targets
0.02Suggestive
chronic kidney diseaseOpen Targets
0.02Suggestive
head and neck squamous cell carcinomaOpen Targets
0.02Suggestive
Polycystic Kidney DiseaseOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
hypotrichosis 1Open Targets
0.01Suggestive
Kidney CystOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
non-alcoholic steatohepatitisOpen Targets
0.01Suggestive
Hepatic cystsOpen Targets
0.01Suggestive
Polycystic kidney disease 7UniProt
Pathogenic Variants8
NM_013338.5(ALG5):c.239-2A>GLikely pathogenic
Polycystic kidney disease 7
β˜…β˜†β˜†β˜†2024
NM_013338.5(ALG5):c.672G>A (p.Trp224Ter)Likely pathogenic
Polycystic kidney disease 7
β˜…β˜†β˜†β˜†2023β†’ Residue 224
NM_013338.5(ALG5):c.115C>T (p.Arg39Ter)Likely pathogenic
Polycystic kidney disease 7
β˜…β˜†β˜†β˜†2023β†’ Residue 39
NM_013338.5(ALG5):c.235C>T (p.Arg79Trp)Pathogenic
Polycystic kidney disease 7
β˜†β˜†β˜†β˜†2025β†’ Residue 79
NM_013338.5(ALG5):c.773G>A (p.Trp258Ter)Pathogenic
Polycystic kidney disease 7
β˜†β˜†β˜†β˜†2022β†’ Residue 258
NM_013338.5(ALG5):c.635G>A (p.Arg212His)Pathogenic
Polycystic kidney disease 7
β˜†β˜†β˜†β˜†2022β†’ Residue 212
NM_013338.5(ALG5):c.623G>A (p.Arg208His)Pathogenic
Polycystic kidney disease 7|Gastric cancer
β˜†β˜†β˜†β˜†2022β†’ Residue 208
NM_013338.5(ALG5):c.703_704del (p.Gln235fs)Pathogenic
Polycystic kidney disease 7
β˜†β˜†β˜†β˜†2022β†’ Residue 235
View on ClinVar β†—
Related Genes
RFT1Shared pathway100%ALG10Shared pathway100%ALG13Shared pathway100%ALG6Protein interaction100%DPAGT1Protein interaction98%ALG9Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
74%
Lung
54%
Brain
49%
Ovary
48%
Heart
36%
Gene Interaction Network
Click a node to explore
ALG5RFT1ALG10ALG13ALG6DPAGT1ALG9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y673
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.52 [0.34–0.82]
RankingsWhere ALG5 stands among ~20K protein-coding genes
  • #8,641of 20,598
    Most Researched51
  • #3,090of 5,498
    Most Pathogenic Variants8
  • #6,981of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedALG5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.
PMID: 38097330
Adv Kidney Dis Health Β· 2023
1.00
2
ALG5 downregulation inhibits osteogenesis and promotes adipogenesis by regulating the N-glycosylation of SLC6A9 in osteoporosis.
PMID: 39760914
Cell Mol Life Sci Β· 2025
0.90
3
Compensatory roles of STT3A and ALG5 in glucose metabolism of aged macaque hippocampus.
PMID: 40908792
Brain Β· 2025
0.80
4
Genome-wide CRISPR screen identifies ALG5, ALG6, NF2, and FUT8 as key host proteins involved in transmissible gastroenteritis virus infection.
PMID: 41205942
Int J Biol Macromol Β· 2025
0.70
5
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
PMID: 35896117
Am J Hum Genet Β· 2022
0.60