Pomt1 Gene Summary [Mouse]
Predicted to enable mannosyltransferase activity. Acts upstream of or within extracellular matrix organization. Located in acrosomal vesicle and sarcoplasmic reticulum. Part of dolichyl-phosphate-mannose-protein mannosyltransferase complex. Is expressed in several structures, including central nervous system; eye; germ cell of gonad; heart; and hemolymphoid system gland. Used to study muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in cardiomyopathy; cleft lip; lissencephaly; and muscular dystrophy (multiple). Orthologous to human POMT1 (protein O-mannosyltransferase 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pomt1 |
| Official Name | protein-O-mannosyltransferase 1 [Source:MGI Symbol;Acc:MGI:2138994] |
| Ensembl ID | ENSMUSG00000039254 |
| Bio databases IDs | |
| Aliases | protein-O-mannosyltransferase 1 |
| Synonyms | LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, protein-O-mannosyltransferase 1, RT |
| Species | Mouse, Mus musculus |
| 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 mouse Pomt1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- mannosyltransferase
- MIR domain
- enzyme
- protein binding
- C-terminal four TMM region of protein-O-mannosyltransferase
- beta-trefoil_MIR
- dolichyl-phosphate-mannose-protein mannosyltransferase
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 A1
- limb-girdle muscular dystrophy type 2
- muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B1
- limb-girdle muscular dystrophy type 2K
- hereditary disorder
- Walker-Warburg syndrome
- POMT1-related disorder
- muscular dystrophy-dystroglycanopathy
- POMT1-related myopathy
- dystroglycanopathy
role in cell
- activation in
- integrity
- organization
- O-mannosylation in
- modification in
- stiffness
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
- sarcoplasmic reticulum
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- acrosome
- microsomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pomt1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein O-linked glycosylation
- extracellular matrix organization
- protein O-linked mannosylation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- sarcoplasmic reticulum
- acrosomal vesicle
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- mannosyltransferase activity
- metal ion binding
- dolichyl-phosphate-mannose-protein mannosyltransferase activity