PGM5 (Phosphoglucomutase 5)
A member of the phosphoglucomutase family involved in glucose metabolism and associated with muscle function and cancer.
Gene Information Card
| Symbol | PGM5 |
|---|---|
| Full Name | Phosphoglucomutase 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q21.11 |
| NCBI Gene ID | 5239 ncbi.nlm.nih.gov/gene/5239 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q15124 |
| OMIM ID | 600753 |
| HGNC ID | 8908 |
| Aliases | PGM5, phosphoglucomutase 5, PGM5, phosphoglucomutase-like 5, PGM5, phosphoglucomutase 5 (muscle) |
Description
PGM5 encodes phosphoglucomutase 5, an enzyme that catalyzes the interconversion of glucose-1-phosphate and glucose-6-phosphate, playing a key role in glycogen metabolism and glycolysis. It is predominantly expressed in muscle tissues and has been implicated in muscle physiology and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type XIV | Deficiency in PGM5 leads to impaired glycogenolysis and glycolysis, causing muscle weakness and exercise intolerance. | ClinVar, OMIM |
| Colorectal cancer | Altered PGM5 expression may affect glucose metabolism in tumor cells, contributing to cancer progression. | COSMIC, NCBI |
| Breast cancer | PGM5 mutations and expression changes have been observed in breast cancer samples, potentially influencing metabolic reprogramming. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 18.5 | High |
| Heart | 12.3 | Medium |
| Liver | 2.1 | Low |
| Brain | 1.5 | Low |
| Kidney | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 2.8 | Hepatocellular carcinoma cell line |
| A549 | 1.2 | Lung carcinoma cell line |
| MCF7 | 4.1 | Breast cancer cell line |
| C2C12 | 15.6 | Mouse myoblast cell line (high expression) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Reduced enzyme activity |
| c.235C>T | nonsense | 0.005% | Premature stop codon, loss of function |
| c.456_457insA | frameshift | 0.002% | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, reducing phosphoglucomutase activity.
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 | • glucose-1-phosphate adenylyltransferase activity |
| • magnesium ion binding | • glycogen metabolic process |
| • glucose metabolic process | • carbohydrate metabolic process |
Pathways
• Glycogen metabolism
• Glycolysis / Gluconeogenesis
• Pentose phosphate pathway
Protein Summary
Phosphoglucomutase 5 (PGM5) is a 62 kDa enzyme that catalyzes the reversible conversion of glucose-1-phosphate to glucose-6-phosphate, a critical step in glycogenolysis and glycolysis. It is highly expressed in skeletal and cardiac muscle, where it regulates energy metabolism. Mutations in PGM5 can lead to glycogen storage disease type XIV, characterized by muscle weakness and exercise intolerance. Altered expression is also observed in various cancers, suggesting a role in tumor metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGM5 Knockout HEK293 Cell Line | EDJ-KQ5451 | Human | 5239 | Details Get a Quote |
| PGM5 Knockout HeLa Cell Line | EDJ-KQ54130 | Human | 5239 | Details Get a Quote |
| PGM5 Knockout A-549 Cell Line | EDJ-KQ62619 | Human | 5239 | Details Get a Quote |
| PGM5 Knockout HCT 116 Cell Line | EDJ-KQ71091 | Human | 5239 | Details Get a Quote |
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