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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ALG3
ALG3 alpha-1,3- mannosyltransferase
Chromosome 3 Β· 3q27.1
NCBI Gene: 10195Ensembl: ENSG00000214160.11HGNC: HGNC:23056UniProt: Q92685
48PubMed Papers
21Diseases
0Drugs
36Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulum membranedol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activityprotein N-linked glycosylationdolichol-linked oligosaccharide biosynthetic processALG3-congenital disorder of glycosylationcongenital disorder of glycosylationgenetic disordercongenital disorder of glycosylation type I
✦AI Summary

ALG3 encodes an alpha-1,3-mannosyltransferase that catalyzes a critical step in N-linked glycosylation by adding the first luminal mannose to Man(5)GlcNAc(2)-PP-dolichol, generating Man(6)GlcNAc(2)-PP-dolichol as substrate for ALG9 1. This enzyme operates within the endoplasmic reticulum during dolichol-linked oligosaccharide biosynthesis, which serves as the glycan precursor for asparagine-linked protein glycosylation [UniProt annotation]. ALG3 is also involved in broader cellular processes through protein-protein interactions with OSBP, CREB3, and LRP1, suggesting roles beyond glycosylation 2. Pathogenic ALG3 variants cause congenital disorder of glycosylation type 1D (ALG3-CDG), a rare autosomal recessive condition characterized by severe neurologic, cardiac, musculoskeletal, and ophthalmic manifestations, with nearly 50% mortality before the neonatal period 3. Visual impairment commonly results from optic nerve hypoplasia 3. Additionally, ALG3 is markedly upregulated in multiple malignancies including triple-negative breast cancer, nasopharyngeal carcinoma, and hepatocellular carcinoma, where elevated expression correlates with poor prognosis and reduced immunotherapy efficacy 456. In cancer contexts, ALG3-mediated N-glycosylation of PD-L1 and FOXD1 modulates the tumor microenvironment by reducing CD8+ T cell infiltration and enhancing regulatory T cell populations, promoting immune evasion and chemotherapy resistance 45. Thus, ALG3 represents both a disease-causing gene in glycosylation disorders and an emerging oncoimmunological biomarker.

Sources cited
1
ALG3 encodes an alpha-1,3-mannosyltransferase that catalyzes a critical step in N-linked glycosylation by adding the first luminal mannose to Man(5)GlcNAc(2)-PP-dolichol, generating Man(6)GlcNAc(2)-PP-dolichol as substrate for ALG9 .
PMID: 10581255
2
ALG3 is also involved in broader cellular processes through protein-protein interactions with OSBP, CREB3, and LRP1, suggesting roles beyond glycosylation .
PMID: 29547901
3
Pathogenic ALG3 variants cause congenital disorder of glycosylation type 1D (ALG3-CDG), a rare autosomal recessive condition characterized by severe neurologic, cardiac, musculoskeletal, and ophthalmic manifestations, with nearly 50% mortality before the neonatal period .
PMID: 34090370
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
ALG3-congenital disorder of glycosylationOpen Targets
0.82Strong
congenital disorder of glycosylationOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.41Moderate
congenital disorder of glycosylation type IOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.30Weak
Intellectual disabilityOpen Targets
0.26Weak
mathematical abilityOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
urinary bladder carcinomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
Abnormality of the skeletal systemOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.04Suggestive
triple-negative breast cancerOpen Targets
0.04Suggestive
oral squamous cell carcinomaOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
Congenital disorder of glycosylation 1DUniProt
Pathogenic Variants36
NM_005787.6(ALG3):c.1061G>A (p.Arg354His)Pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2026β†’ Residue 354
NM_005787.6(ALG3):c.206T>C (p.Ile69Thr)Likely pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 69
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)Pathogenic
ALG3-congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 171
NM_005787.6(ALG3):c.1188G>A (p.Trp396Ter)Pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 396
NM_005787.6(ALG3):c.2T>C (p.Met1Thr)Pathogenic
not provided|ALG3-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_005787.6(ALG3):c.1060C>T (p.Arg354Cys)Likely pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 354
NM_005787.6(ALG3):c.165C>T (p.Gly55=)Pathogenic
ALG3-congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 55
NM_005787.6(ALG3):c.444+1G>TLikely pathogenic
not provided|ALG3-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025
NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)Pathogenic
ALG3-congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 266
NM_005787.6(ALG3):c.521A>G (p.Asn174Ser)Likely pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2023β†’ Residue 174
NM_005787.6(ALG3):c.606-2A>CPathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025
NM_005787.6(ALG3):c.488G>A (p.Arg163His)Likely pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 163
NM_005787.6(ALG3):c.859C>T (p.Arg287Ter)Pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 287
NM_005787.6(ALG3):c.566T>C (p.Leu189Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 189
NM_005787.6(ALG3):c.444+1G>ALikely pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024
NM_005787.6(ALG3):c.29_45dup (p.Gln16fs)Pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 16
NM_005787.6(ALG3):c.116del (p.Pro39fs)Pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 39
NM_005787.6(ALG3):c.1188dup (p.Asn397fs)Pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 397
NM_005787.6(ALG3):c.67C>T (p.Gln23Ter)Pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 23
NM_005787.6(ALG3):c.890_891del (p.His297fs)Pathogenic
ALG3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 297
View on ClinVar β†—
Related Genes
ALG6Protein interaction100%ALG2Protein interaction99%DPAGT1Protein interaction99%PIGVProtein interaction99%PIGMProtein interaction99%ALG1Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Lung
45%
Ovary
28%
Bone Marrow
25%
Heart
25%
Brain
13%
Gene Interaction Network
Click a node to explore
ALG3ALG6ALG2DPAGT1PIGVPIGMALG1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q92685
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.57–0.97]
RankingsWhere ALG3 stands among ~20K protein-coding genes
  • #9,039of 20,598
    Most Researched48
  • #1,657of 5,498
    Most Pathogenic Variants36
  • #9,237of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedALG3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
PMID: 37239976
Int J Mol Sci Β· 2023
0.90
3
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
PMID: 34090370
BMC Ophthalmol Β· 2021
0.80
4
Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular processes relevant to congenital disorders of glycosylation, cancer, neurodegeneration and a variety of further pathologies.
PMID: 29547901
Hum Mol Genet Β· 2018
0.70
5
ALG3 predicts poor prognosis and increases resistance to anti-PD-1 therapy through modulating PD-L1 N-link glycosylation in TNBC.
PMID: 39116492
Int Immunopharmacol Β· 2024
0.60