Pomgnt1 Gene Summary [Rat]
Predicted to enable beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity and manganese ion binding activity. Predicted to be involved in O-glycan processing. Predicted to act upstream of or within several processes, including nervous system development; protein O-linked mannosylation; and reactive gliosis. Predicted to be located in membrane. Predicted to be active in Golgi membrane. Human ortholog(s) of this gene implicated in lissencephaly; muscular dystrophy (multiple); and retinitis pigmentosa. Orthologous to human POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pomgnt1 |
| Official Name | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Source:RGD Symbol;Acc:1359396] |
| Ensembl ID | ENSRNOG00000023455 |
| Bio databases IDs | |
| Aliases | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| Synonyms | 0610016I07Rik, 4930467B06RIK, GNTI.2, LGMD2O, LGMDR15, MEB, MGAT1.2, protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), protein O-linked mannose N-acetylglucosaminyltransferase 1 (β 1,2-), protein O-linked mannose β 1,2-N-acetylglucosaminyltransferase, RP76 |
| Species | Rat, Rattus norvegicus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in rat Pomgnt1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase
- acetylglucosaminyltransferase
- Interleukin-like EMT inducer
- enzyme
- protein binding
- manganese ion binding
- glycosyltransferase family A
- Domains similar to the Pancreatic-derived factor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A3
- muscle-eye-brain disease
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
- muscular dystrophy-dystroglycanopathy
- POMGNT1-related disorder
- mental retardation
- limb-girdle muscular dystrophy type 2
- muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B3
- retinal dystrophy
- retinitis pigmentosa type 76
role in cell
- expression in
- proliferation
- size
- myelination
- infectibility
- cell-cell adhesion
- abnormal morphology
- number
- phosphorylation in
- modification in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Plasma Membrane
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the rat Pomgnt1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- localization of cell
- protein O-linked glycosylation
- gene expression
- basement membrane organization
- myelination
- O-glycan processing
- protein O-linked mannosylation
- dentate gyrus development
Cellular Component
Where in the cell the gene product is active
- membrane
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- acetylglucosaminyltransferase activity
- beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity
- manganese ion binding
- carbohydrate binding