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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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UGGT1
UDP-glucose glycoprotein glucosyltransferase 1
Chromosome 2 Β· 2q14.3
NCBI Gene: 56886Ensembl: ENSG00000136731.14HGNC: HGNC:15663UniProt: Q9NYU2
152PubMed Papers
20Diseases
0Drugs
9Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
UDP-glucose:glycoprotein glucosyltransferase activityprotein bindingunfolded protein bindingendoplasmic reticulumconnective tissue diseaseovarian dysfunctionchronic laryngitiscongenital disorder of glycosylation
✦AI Summary

UGGT1 (UDP-glucose glycoprotein glucosyltransferase 1) functions as a critical 'folding sensor' and gatekeeper of protein quality control in the endoplasmic reticulum (ER) 1. The enzyme recognizes glycoproteins with minor folding defects and reglucosylates their N-linked glycans, allowing these proteins to re-enter the lectin-chaperone folding cycle 2. This reglucosylation activity is essential for determining the fate of glycoproteins through competition between folding and degradation pathways 2. UGGT1 functions as a heterodimer with selenoprotein F (SEP15/SelenoF), which enhances its oxidoreductase capacity 13. Beyond general protein folding, UGGT1 cooperates with TAPBPR to quality-control MHC I complexes during antigen presentation 4. Clinically, bi-allelic UGGT1 loss-of-function variants cause congenital disorder of glycosylation (CDG), characterized by developmental delay, intellectual disability, seizures, microcephaly, and variable organ involvement 5. Pan-cancer analysis reveals UGGT1 overexpression correlates with advanced cancer stage, poor survival, and altered immune infiltration across multiple tumor types, establishing it as a therapeutic target 6. Additionally, UGGT1 upregulation in Alzheimer's disease brain capillaries associates with enhanced protein processing and N-glycosylation capacity 7.

Sources cited
1
UGGT is the gatekeeper of protein folding in the ER and interacts with selenoprotein SEP15/SelenoF as a cochaperone
PMID: 39133860
2
UGGT1 delays glycoprotein degradation and its glucosylation activity determines protein fate through competition with EDEMs
PMID: 39654396
3
UGGT1 forms heterodimers with SelenoF and both proteins can be expressed and purified as a functional complex
PMID: 40250575
4
UGGT1 cooperates with TAPBPR for quality control and reglucosylation of peptide-free MHC I
PMID: 37345806
5
Bi-allelic UGGT1 variants cause congenital disorder of glycosylation with developmental delay, intellectual disability, seizures, and organ involvement
PMID: 40267907
6
UGGT1 overexpression in cancers correlates with advanced stage, poor survival, and altered immune infiltration; knockdown inhibits cancer cell proliferation
PMID: 40707677
7
UGGT1 expression is upregulated in Alzheimer's disease brain capillaries along with other protein processing and N-glycosylation proteins
PMID: 35766008
Disease Associationsβ“˜20
connective tissue diseaseOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.25Weak
chronic laryngitisOpen Targets
0.23Weak
congenital disorder of glycosylationOpen Targets
0.19Weak
cervical carcinomaOpen Targets
0.09Suggestive
infectionOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
retinitis pigmentosaOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
snowflake vitreoretinal degenerationOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
Familial drusenOpen Targets
0.04Suggestive
Coats diseaseOpen Targets
0.04Suggestive
birdshot chorioretinopathyOpen Targets
0.04Suggestive
hereditary angioedemaOpen Targets
0.04Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.04Suggestive
hereditary angioedema with normal C1InhOpen Targets
0.04Suggestive
early-onset non-syndromic cataractOpen Targets
0.04Suggestive
Pathogenic Variants9
NM_020120.4(UGGT1):c.4636C>T (p.Arg1546Ter)Pathogenic
Congenital disorder of glycosylation, type IIcc
β˜…β˜†β˜†β˜†2025β†’ Residue 1546
NM_020120.4(UGGT1):c.381_384del (p.Ser126_Tyr127insTer)Pathogenic
Congenital disorder of glycosylation, type IIcc
β˜†β˜†β˜†β˜†2025β†’ Residue 126
NM_020120.4(UGGT1):c.1168_1191del (p.Asp390_Gly397del)Pathogenic
Congenital disorder of glycosylation, type IIcc
β˜†β˜†β˜†β˜†2025β†’ Residue 390
NM_020120.4(UGGT1):c.3464A>G (p.Gln1155Arg)Pathogenic
Congenital disorder of glycosylation, type IIcc
β˜†β˜†β˜†β˜†2025β†’ Residue 1155
NM_020120.4(UGGT1):c.978_979del (p.Ser327fs)Pathogenic
Congenital disorder of glycosylation, type IIcc
β˜†β˜†β˜†β˜†2025β†’ Residue 327
NM_020120.4(UGGT1):c.2168T>C (p.Phe723Ser)Pathogenic
Congenital disorder of glycosylation, type IIcc
β˜†β˜†β˜†β˜†2025β†’ Residue 723
NM_020120.4(UGGT1):c.3815G>A (p.Arg1272His)Pathogenic
Congenital disorder of glycosylation, type IIcc
β˜†β˜†β˜†β˜†2025β†’ Residue 1272
NM_020120.4(UGGT1):c.2132C>T (p.Ala711Val)Pathogenic
Congenital disorder of glycosylation, type IIcc
β˜†β˜†β˜†β˜†2025β†’ Residue 711
NM_020120.4(UGGT1):c.752del (p.Lys251fs)Pathogenic
Hypercholesterolemia, familial, 1
β˜†β˜†β˜†β˜†2022β†’ Residue 251
View on ClinVar β†—
Related Genes
SELENOFProtein interaction99%UGGT2Protein interaction96%CALRProtein interaction94%PDIA3Protein interaction94%LMAN1Protein interaction94%PDIA4Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
81%
Brain
73%
Lung
65%
Heart
58%
Ovary
36%
Gene Interaction Network
Click a node to explore
UGGT1SELENOFUGGT2CALRPDIA3LMAN1PDIA4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NYU2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.52 [0.43–0.62]
RankingsWhere UGGT1 stands among ~20K protein-coding genes
  • #2,983of 20,598
    Most Researched152 Β· top quartile
  • #2,930of 5,498
    Most Pathogenic Variants9
  • #4,306of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedUGGT1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Pan-cancer analysis of UGGT1 in human tumors and experimental validation in breast cancer.
PMID: 40707677
Sci Rep Β· 2025
1.00
2
UGGT1-mediated reglucosylation of
PMID: 39654396
Elife Β· 2024
0.90
3
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.
PMID: 40267907
Am J Hum Genet Β· 2025
0.80
4
Upregulation of ribosome complexes at the blood-brain barrier in Alzheimer's disease patients.
PMID: 35766008
J Cereb Blood Flow Metab Β· 2022
0.70
5
Correction: Pan-cancer analysis of UGGT1 in human tumors and experimental validation in breast cancer.
PMID: 41398349
Sci Rep Β· 2025
0.68