phosphoglucomutase 1

Symbol

PGM1 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
pgm1 Danio rerio
Pgm1 Mus musculus
Pgm1 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3319 Gene expression of PGM1 decreases with age Molecular skin Human PGM1 —

GO Terms

GO IDGO TermGO Category
GO:0005975 carbohydrate metabolic process biological_process
GO:0005978 glycogen biosynthetic process biological_process
GO:0005980 glycogen catabolic process biological_process
GO:0005992 trehalose biosynthetic process biological_process
GO:0006006 glucose metabolic process biological_process
GO:0008152 metabolic process biological_process
GO:0019255 glucose 1-phosphate metabolic process biological_process
GO:0019388 galactose catabolic process biological_process
GO:0044281 small molecule metabolic process biological_process
GO:0005737 cytoplasm cellular_component
GO:0005829 cytosol cellular_component
GO:0015629 actin cytoskeleton cellular_component
GO:0000287 magnesium ion binding molecular_function
GO:0004614 phosphoglucomutase activity molecular_function
GO:0016853 isomerase activity molecular_function
GO:0016868 intramolecular transferase activity, phosphotransferases molecular_function