UGGT1
UDP-Glucose Glycoprotein Glucosyltransferase 1
Gene Information Card
| Symbol | UGGT1 |
|---|---|
| Full Name | UDP-Glucose Glycoprotein Glucosyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 56886 ncbi.nlm.nih.gov/gene/56886 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9NYU2 |
| OMIM ID | 605996 |
| HGNC ID | 15663 |
| Aliases | UGGT, HUGT1, UGGT1A, UGGT1B |
Description
UGGT1 encodes a key endoplasmic reticulum (ER) quality control enzyme, UDP-glucose glycoprotein glucosyltransferase 1. This protein acts as a folding sensor, reglucosylating misfolded glycoproteins to retain them in the calnexin/calreticulin cycle until proper folding is achieved. It plays a critical role in glycoprotein homeostasis and ER stress response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorders of glycosylation (CDG) | Deficient UGGT1 activity impairs glycoprotein folding quality control, leading to accumulation of misfolded proteins in the ER. | Case reports and functional studies (PMID: 25716914) |
| Cancer (various types) | Altered UGGT1 expression may affect tumor cell survival under ER stress; potential role in chemoresistance. | Expression profiling and in vitro studies (COSMIC, TCGA) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Pancreas | 8.7 | Low |
| Kidney | 15.1 | Medium |
| Brain | 6.2 | Low |
| Heart | 4.5 | Low |
| Testis | 18.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | High expression |
| HepG2 | 16.8 | Medium expression |
| HeLa | 14.2 | Medium expression |
| K562 | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.001% (gnomAD) | Potential loss of glucosyltransferase activity |
| c.2567A>G (p.Asn856Ser) | Missense | 0.003% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in catalytic domain (e.g., p.Arg412Trp) reduce reglucosylation activity, impairing glycoprotein folding quality control.
Gain of Function (GOF)
Not reported in literature or databases.
Dominant Negative (DN)
Not reported in literature or databases.
View complete mutation data：
Gene Ontology (GO)
| • UDP-glucose:glycoprotein glucosyltransferase activity | • calnexin cycle |
| • endoplasmic reticulum | • protein folding |
| • response to ER stress |
Pathways
• Calnexin/calreticulin cycle
• ER quality control
• Glycoprotein biosynthesis
Protein Summary
UGGT1 is a 160 kDa ER luminal enzyme that specifically recognizes misfolded glycoproteins and transfers a glucose residue from UDP-glucose to the Man9GlcNAc2 glycan. This reglucosylation allows binding to calnexin/calreticulin, retaining the protein in the folding cycle. It is essential for proper glycoprotein maturation and ER homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGGT1 Knockout HEK293 Cell Line | EDJ-KQ16021 | Human | 56886 | Details Get a Quote |
| UGGT1 Knockout A-549 Cell Line | EDJ-KQ47118 | Human | 56886 | Details Get a Quote |
| UGGT1 Knockout HCT 116 Cell Line | EDJ-KQ47119 | Human | 56886 | Details Get a Quote |
| UGGT1 Knockout HeLa Cell Line | EDJ-KQ47120 | Human | 56886 | Details Get a Quote |
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