POMGNT1
Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)
Gene Information Card
| Symbol | POMGNT1 |
|---|---|
| Full Name | Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-) |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 55624 ncbi.nlm.nih.gov/gene/55624 |
| Ensembl ID | ENSG00000185960 |
| UniProt ID | Q8WZA1 |
| OMIM ID | 606822 |
| HGNC ID | 19139 |
| Aliases | MGAT1.2, GnT I.2, MEB, POMGnT1 |
Description
POMGNT1 encodes a glycosyltransferase that catalyzes the transfer of N-acetylglucosamine to O-linked mannose residues of alpha-dystroglycan, a critical step in the O-mannosylation pathway. Mutations in this gene cause muscle-eye-brain disease and other dystroglycanopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscle-eye-brain disease (MEB) | Loss-of-function mutations impair O-mannosylation of alpha-dystroglycan, disrupting basement membrane integrity in muscle, eye, and brain. | OMIM #253280; multiple reports in ClinVar and literature. |
| Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3) | Same mechanism as MEB; allelic disorder. | OMIM #253280; ClinVar. |
| Limb-girdle muscular dystrophy-dystroglycanopathy (type C3) | Milder mutations reduce but do not abolish enzyme activity. | OMIM #613151; ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Skeletal muscle | 8.2 | Low |
| Heart | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 9.8 | Medium |
| K562 | 4.2 | Low |
| HepG2 | 3.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1539+1G>A | Splice donor | Common in Finnish MEB patients | Loss of function |
| c.879G>A (p.Trp293*) | Nonsense | Rare | Loss of function |
| c.266G>A (p.Cys89Tyr) | Missense | Low frequency | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations, including splice-site and nonsense variants, lead to complete or near-complete loss of enzymatic activity, causing severe MEB phenotype.
Gain of Function (GOF)
Not described for POMGNT1.
Dominant Negative (DN)
Not described for POMGNT1.
View complete mutation data：
Gene Ontology (GO)
| • mannosyltransferase activity (GO:0000030) | • protein N-linked glycosylation (GO:0006487) |
| • glycosyltransferase activity (GO:0016757) | • Golgi apparatus (GO:0005794) |
Pathways
• O-mannosyl glycan biosynthesis (Reactome R-HSA-5173105)
• Dystroglycan-related disorders (KEGG hsa00514)
Protein Summary
POMGNT1 is a type II transmembrane glycosyltransferase localized to the Golgi apparatus. It adds N-acetylglucosamine in beta-1,2 linkage to O-mannose on alpha-dystroglycan, essential for proper laminin binding. Deficiency leads to hypoglycosylation of alpha-dystroglycan and muscular dystrophy with brain and eye involvement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POMGNT1 Knockout HEK293 Cell Line | EDJ-KQ14833 | Human | 55624 | Details Get a Quote |
| POMGNT1 Knockout HeLa Cell Line | EDJ-KQ44011 | Human | 55624 | Details Get a Quote |
| POMGNT1 Knockout A-549 Cell Line | EDJ-KQ45277 | Human | 55624 | Details Get a Quote |
| POMGNT1 Knockout HCT 116 Cell Line | EDJ-KQ45278 | Human | 55624 | Details Get a Quote |
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