PMM1 Gene Summary [Human]
Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PMM1 |
| Official Name | phosphomannomutase 1 [Source:HGNC Symbol;Acc:HGNC:9114] |
| Ensembl ID | ENSG00000100417 |
| Bio databases IDs | |
| Aliases | phosphomannomutase 1, brain glucose-1,6-bisphosphatase |
| Synonyms | Phosphomannomutase, phosphomannomutase 1, PMMH-22, Sec53 |
| 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 PMM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HAD-superfamily hydrolase, subfamily IIB
- enzyme
- protein binding
- Cof subfamily of IIB subfamily of haloacid dehalogenase superfamily
- phosphomannomutase
- Haloacid Dehalogenase-like Hydrolases
- haloacid dehalogenase-like hydrolase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- global developmental delay, absent or hypoplastic corpus callosum and dysmorphic facies
- infection by HIV-1
regulates
- glucose-1,6-bisphosphate
- mannose
- GDP-D-mannose
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
- cell cortex
- cytosol
- neurite branches
- perikaryon
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PMM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GDP-mannose biosynthetic process
- mannose metabolic process
- protein N-linked glycosylation
Cellular Component
Where in the cell the gene product is active
- cytosol
- neuronal cell body
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- phosphomannomutase activity