PGM1
Phosphoglucomutase 1: A Key Enzyme in Glycogen Metabolism and Congenital Disorder of Glycosylation
Gene Information Card
| Symbol | PGM1 |
|---|---|
| Full Name | Phosphoglucomutase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 5236 ncbi.nlm.nih.gov/gene/5236 |
| Ensembl ID | ENSG00000076650 |
| UniProt ID | P36871 |
| OMIM ID | 171900 |
| HGNC ID | 8905 |
| Aliases | PGM1A, PGM1B, PGM1C, PGM1D, GSD14, CDG1T |
Description
The PGM1 gene encodes phosphoglucomutase 1, a cytosolic enzyme that catalyzes the reversible conversion of glucose-1-phosphate to glucose-6-phosphate, a critical step in glycogenolysis and glycoprotein synthesis. Mutations in PGM1 cause phosphoglucomutase 1 deficiency (PGM1-CDG), a congenital disorder of glycosylation characterized by hypoglycemia, hepatopathy, myopathy, and coagulopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| PGM1-CDG (Congenital Disorder of Glycosylation type It) | Loss-of-function mutations impair interconversion of glucose-1-phosphate and glucose-6-phosphate, disrupting N-glycosylation and glycogen metabolism. | ClinVar, OMIM |
| Glycogen Storage Disease type XIV | Deficient PGM1 activity leads to glycogen accumulation in muscle and liver, causing exercise intolerance and hypoglycemia. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Skeletal Muscle | 12.8 | Medium |
| Heart | 10.5 | Medium |
| Brain | 8.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocellular carcinoma cell line |
| HeLa | 9.8 | Cervical adenocarcinoma cell line |
| K-562 | 6.5 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.150C>A (p.Cys50Ter) | Nonsense | Rare | Loss of function; associated with PGM1-CDG |
| c.340G>A (p.Glu114Lys) | Missense | Rare | Reduced enzyme activity; PGM1-CDG |
| c.746G>A (p.Arg249His) | Missense | Rare | Impaired catalytic activity; PGM1-CDG |
Mutation functional classification
Loss of Function (LOF)
Most PGM1 mutations are loss-of-function, reducing or abolishing enzyme activity, leading to PGM1-CDG.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphoglucomutase activity (GO:0004614) | • carbohydrate metabolic process (GO:0005975) |
| • cytosol (GO:0005829) | • mannose metabolic process (GO:0006013) |
| • gluconeogenesis (GO:0006094) |
Pathways
• Glycogen metabolism (Reactome: R-HSA-8982491)
• Glucose metabolism (KEGG: hsa00010)
• N-glycan biosynthesis (Reactome: R-HSA-446203)
Protein Summary
Phosphoglucomutase 1 (PGM1) is a 62 kDa cytosolic enzyme that catalyzes the reversible transfer of a phosphate group between glucose-1-phosphate and glucose-6-phosphate. It plays a central role in glycogenolysis, gluconeogenesis, and the synthesis of UDP-glucose for glycoprotein and glycolipid glycosylation. Deficiency due to biallelic mutations leads to PGM1-CDG, a multisystem disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGM1 Knockout HEK293 Cell Line | EDJ-KQ2737 | Human | 5236 | Details Get a Quote |
| PGM1 Knockout A-549 Cell Line | EDJ-KQ23606 | Human | 5236 | Details Get a Quote |
| PGM1 Knockout HCT 116 Cell Line | EDJ-KQ23607 | Human | 5236 | Details Get a Quote |
| PGM1 Knockout HeLa Cell Line | EDC12779 | Human | 5236 | Details Get a Quote |
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