POGLUT3
Protein O-Glucosyltransferase 3
Gene Information Card
| Symbol | POGLUT3 |
|---|---|
| Full Name | Protein O-Glucosyltransferase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 100130449 ncbi.nlm.nih.gov/gene/100130449 |
| Ensembl ID | ENSG00000203877 |
| UniProt ID | A6NMT0 |
| OMIM ID | 618847 |
| HGNC ID | 37277 |
| Aliases | C3orf70, TMEM260 |
Description
POGLUT3 (Protein O-Glucosyltransferase 3) encodes a glycosyltransferase that catalyzes the addition of glucose to serine residues in EGF-like domains of proteins, including Notch receptors. This modification is essential for proper Notch signaling and cellular differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not applicable | No disease associations currently reported in ClinVar or OMIM. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Low |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| K562 | 8.7 | Low expression |
| HeLa | 6.4 | Low expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • protein O-glucosyltransferase activity (GO:0035269) | • endoplasmic reticulum (GO:0005783) |
| • protein glycosylation (GO:0006486) | • Notch signaling pathway (GO:0007219) |
Pathways
• Notch signaling (Reactome: R-HSA-157118)
• O-glycosylation of proteins (Reactome: R-HSA-5173105)
Protein Summary
POGLUT3 is a 456-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as a protein O-glucosyltransferase, transferring glucose from UDP-glucose to serine residues in EGF-like domains. This modification is critical for the folding, trafficking, and activity of Notch receptors and other EGF-domain-containing proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POGLUT3 Knockout HEK293 Cell Line | EDJ-KQ10398 | Human | 143888 | Details Get a Quote |
| POGLUT3 Knockout A-549 Cell Line | EDJ-KQ37743 | Human | 143888 | Details Get a Quote |
| POGLUT3 Knockout HCT 116 Cell Line | EDJ-KQ37744 | Human | 143888 | Details Get a Quote |
| POGLUT3 Knockout HeLa Cell Line | EDJ-KQ37745 | Human | 143888 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
