MPI Gene Summary [Human]
Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Details
| Type | Protein Coding |
| Official Symbol | MPI |
| Official Name | mannose phosphate isomerase [Source:HGNC Symbol;Acc:HGNC:7216] |
| Ensembl ID | ENSG00000178802 |
| Bio databases IDs | |
| Aliases | mannose phosphate isomerase, mannose-6-phosphate isomerase |
| Synonyms | 1110002E17Rik, CDG1B, mannose phosphate isomerase, MPI1, phosphomannose isomerase, PMI, PMI1 |
| 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 MPI often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Phosphomannose isomerase type I, catalytic domain
- mannose-6-phosphate isomerase
- Phosphomannose isomerase type I, helical insertion domain
- mannose-6-phosphate isomerase, class I
- Phosphomannose isomerase type I C-terminal
- enzyme
- protein binding
- RmlC-like cupin superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- obesity
- congenital disorder of glycosylation type 1b
- hyperplasia
regulates
- mannose-6-phosphate
- GDP-D-mannose
- adenosine triphosphate
role in cell
- growth
- cell death
- mannose sensitivity
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
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MPI gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GDP-mannose biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- mannose-6-phosphate isomerase activity