POMT1 Gene Summary [Human]
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | POMT1 |
| Official Name | protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202] |
| Ensembl ID | ENSG00000130714 |
| Bio databases IDs | |
| Aliases | protein O-mannosyltransferase 1, dolichyl-phosphate-mannose-protein mannosyltransferase |
| Synonyms | LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, protein-O-mannosyltransferase 1, RT |
| 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 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 human 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