OGT (O-Linked N-Acetylglucosamine (GlcNAc) Transferase)
A key enzyme in O-GlcNAc modification, regulating cellular signaling and gene expression.
Gene Information Card
| Symbol | OGT |
|---|---|
| Full Name | O-Linked N-Acetylglucosamine (GlcNAc) Transferase |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 8473 ncbi.nlm.nih.gov/gene/8473 |
| Ensembl ID | ENSG00000147162 |
| UniProt ID | O15294 |
| OMIM ID | 300255 |
| HGNC ID | 8127 |
| Aliases | HRNT1, O-GlcNAc transferase, OGT1 |
Description
The OGT gene encodes O-linked N-acetylglucosamine (GlcNAc) transferase, an enzyme that catalyzes the addition of a single N-acetylglucosamine residue to serine or threonine residues of nuclear and cytoplasmic proteins. This O-GlcNAc modification is dynamic, reversible, and regulates numerous cellular processes including transcription, proteasomal degradation, and cell signaling. OGT is essential for embryonic stem cell viability and plays critical roles in development, metabolism, and neuronal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability (XLID) | Loss-of-function mutations in OGT impair O-GlcNAcylation of key neuronal proteins, disrupting synaptic plasticity and cognitive function. | ClinVar, OMIM |
| Congenital disorder of glycosylation (OGT-CDG) | Missense mutations reduce OGT enzymatic activity, leading to multisystem developmental abnormalities. | OMIM, PubMed |
| Cancer (breast, prostate, colorectal) | Overexpression of OGT promotes oncogenic signaling via O-GlcNAcylation of transcription factors (e.g., c-Myc, NF-κB) and metabolic enzymes. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Pancreas | 9.8 | Medium |
| Liver | 7.2 | Medium |
| Heart | 6.1 | Medium |
| Skeletal Muscle | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression in embryonic kidney cells |
| HeLa | 11.7 | High expression in cervical cancer cells |
| HepG2 | 8.9 | Medium expression in liver cancer cells |
| SH-SY5Y | 14.1 | High expression in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1543C>T (p.Arg515Trp) | Missense | <0.01% | Reduced catalytic activity; associated with XLID |
| c.2260G>A (p.Gly754Ser) | Missense | <0.01% | Impaired substrate recognition; linked to OGT-CDG |
| c.1246_1248del (p.Lys416del) | Deletion | <0.01% | Loss of function; observed in intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion mutations that reduce or abolish OGT enzymatic activity, leading to decreased O-GlcNAcylation and developmental disorders.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a gain-of-function by increasing O-GlcNAcylation of oncoproteins.
Dominant Negative (DN)
Not reported for OGT.
View complete mutation data：
Gene Ontology (GO)
| • protein O-linked glycosylation (GO:0006493) | • protein binding (GO:0005515) |
| • transferase activity (GO:0016740) | • nucleus (GO:0005634) |
| • cytosol (GO:0005829) |
Pathways
• O-GlcNAc modification (Reactome: R-HSA-8957275)
• Hexosamine biosynthetic pathway (KEGG: map00520)
Protein Summary
OGT is a 1046-amino acid enzyme with N-terminal tetratricopeptide repeats (TPRs) that mediate protein-protein interactions and a C-terminal catalytic domain. It transfers GlcNAc from UDP-GlcNAc to target proteins. OGT is ubiquitously expressed, with highest levels in brain and pancreas. The enzyme is essential for cellular homeostasis and its dysregulation is linked to intellectual disability, diabetes, and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EOGT Knockout HEK293 Cell Line | EDJ-KQ13296 | Human | 285203 | Details Get a Quote |
| EOGT Knockout A-549 Cell Line | EDJ-KQ42740 | Human | 285203 | Details Get a Quote |
| EOGT Knockout HCT 116 Cell Line | EDJ-KQ42741 | Human | 285203 | Details Get a Quote |
| EOGT Knockout HeLa Cell Line | EDJ-KQ42742 | Human | 285203 | Details Get a Quote |
| OGT Knockdown HaCaT stable cell line | EDJ-KD006 | Human | 8473 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
