PGM1 Gene Summary [Human]
The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | PGM1 |
| Official Name | phosphoglucomutase 1 [Source:HGNC Symbol;Acc:HGNC:8905] |
| Ensembl ID | ENSG00000079739 |
| Bio databases IDs | |
| Aliases | phosphoglucomutase 1 |
| Synonyms | 2610020G18Rik, AI098105, BC062258, CDG1T, GSD14, Pgm1a, Pgm-2, phosphoglucomutase 1 |
| 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 PGM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphohexomutase
- phosphoglucosamine mutase
- Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III
- enzyme
- protein binding
- magnesium ion binding
- phosphoglucomutase
- Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II
- Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- congenital disorder of glycosylation type 1t
- hereditary disorder
- androgenic alopecia
- insulin-dependent diabetes mellitus
- congenital disorders of glycosylation
- non-insulin-dependent diabetes mellitus
- breast cancer
- infection by HIV-1
regulates
- Ca2+
- D-glucose
- glycogen
role in cell
- glycolysis in
- homeostasis in
- gluconeogenesis 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
- ficolin-1-rich granule lumen
- Extracellular Space
- organelle lumens
- cytosol
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PGM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- gluconeogenesis
- glycolysis
- galactose catabolic process via UDP-galactose
- glucose metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
- extracellular region
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- phosphoglucomutase activity
- protein binding