POMGNT1 Gene Summary [Human]
This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
Details
| Type | Protein Coding |
| Official Symbol | POMGNT1 |
| Official Name | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Source:HGNC Symbol;Acc:HGNC:19139] |
| Ensembl ID | ENSG00000085998 |
| Bio databases IDs | |
| Aliases | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), protein O-mannose beta-1,2-N-acetylglucosaminyltransferase |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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