PKM Gene - Pyruvate Kinase M1/2
Key regulator of glycolysis and cancer metabolism
Gene Information Card
| Symbol | PKM |
|---|---|
| Full Name | Pyruvate Kinase M1/2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 5315 ncbi.nlm.nih.gov/gene/5315 |
| Ensembl ID | ENSG00000067225 |
| UniProt ID | P14618 |
| OMIM ID | 179050 |
| HGNC ID | 9021 |
| Aliases | PKM2, PKM1, OIP3, THBP1, PK3, CTHBP |
Description
The PKM gene encodes two isoforms of pyruvate kinase, PKM1 and PKM2, which catalyze the final rate-limiting step of glycolysis, converting phosphoenolpyruvate to pyruvate. PKM2 is highly expressed in proliferating cells and tumors, playing a key role in the Warburg effect and metabolic reprogramming. Alternative splicing determines isoform expression, with PKM2 promoting aerobic glycolysis and anabolic biosynthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | PKM2 overexpression promotes aerobic glycolysis and tumor growth | PMID: 18636672, 19029908 |
| Pyruvate kinase deficiency | Rare mutations in PKLR (not PKM) cause hemolytic anemia; PKM mutations are not a known cause | OMIM: 266200 |
| Metabolic disorders | PKM2 regulation linked to insulin resistance and obesity | PMID: 22560223 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Brain | 8.9 | Medium |
| Liver | 3.1 | Low |
| Kidney | 7.4 | Medium |
| Lung | 6.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| A549 | 12.1 | High expression |
| MCF7 | 10.5 | High expression |
| HEK293 | 9.8 | Medium expression |
| K562 | 8.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1151C>T (p.Thr384Met) | Missense | <0.01% | Reported in COSMIC; functional impact unknown |
| c.1468G>A (p.Glu490Lys) | Missense | <0.01% | Reported in COSMIC; possible gain-of-function |
| c.1622G>A (p.Arg541His) | Missense | <0.01% | Reported in COSMIC; loss-of-function suspected |
Mutation functional classification
Loss of Function (LOF)
Rare missense mutations (e.g., p.Arg541His) may reduce pyruvate kinase activity, impairing glycolysis.
Gain of Function (GOF)
Some mutations (e.g., p.Glu490Lys) may enhance PKM2 activity, promoting aerobic glycolysis in cancer.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for PKM.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004743 - pyruvate kinase activity | • GO:0006096 - glycolytic process |
| • GO:0005737 - cytoplasm | • GO:0005829 - cytosol |
| • GO:0019901 - protein kinase binding |
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• HIF-1 signaling pathway (KEGG: hsa04066)
• Central carbon metabolism in cancer (KEGG: hsa05230)
Protein Summary
Pyruvate kinase M1/2 (PKM) is a 58 kDa enzyme that exists as two major splice isoforms: PKM1 (found in adult tissues like muscle and brain) and PKM2 (predominant in embryonic and cancer cells). PKM2 exists as a tetramer with high activity or a dimer with low activity, regulating the switch between glycolysis and anabolic pathways. Post-translational modifications and interactions with oncoproteins modulate PKM2 function, making it a target for cancer therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKM Knockout A-549 Cell Line | EDC90635 | Human | 5315 | Details Get a Quote |
| VCPKMT Knockout HEK293 Cell Line | EDJ-KQ16094 | Human | 79609 | Details Get a Quote |
| VCPKMT Knockout A-549 Cell Line | EDJ-KQ47241 | Human | 79609 | Details Get a Quote |
| VCPKMT Knockout HCT 116 Cell Line | EDJ-KQ47242 | Human | 79609 | Details Get a Quote |
| VCPKMT Knockout HeLa Cell Line | EDJ-KQ47243 | Human | 79609 | Details Get a Quote |
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