PDP1 Gene: Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1
Key regulator of mitochondrial pyruvate dehydrogenase complex activity
Gene Information Card
| Symbol | PDP1 |
|---|---|
| Full Name | Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 54704 ncbi.nlm.nih.gov/gene/54704 |
| Ensembl ID | ENSG00000164924 |
| UniProt ID | Q9P0J1 |
| OMIM ID | 605993 |
| HGNC ID | 9279 |
| Aliases | PDPC, PDP, PPM2C |
Description
PDP1 encodes the catalytic subunit of pyruvate dehydrogenase phosphatase, a mitochondrial enzyme that dephosphorylates and activates the pyruvate dehydrogenase complex (PDC). This activation is essential for converting pyruvate to acetyl-CoA, linking glycolysis to the citric acid cycle. Mutations in PDP1 can impair PDC activity, leading to metabolic disorders such as lactic acidosis and neurological deficits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyruvate Dehydrogenase Phosphatase Deficiency | Loss-of-function mutations in PDP1 reduce PDC activity, causing impaired pyruvate metabolism and lactic acidosis. | OMIM #608782 |
| Lactic Acidemia, Infantile | Deficient PDP1 activity leads to accumulation of lactate due to inadequate acetyl-CoA production. | ClinVar, NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.3 | Medium |
| Skeletal Muscle | 8.9 | Medium |
| Brain | 6.2 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocyte line |
| K-562 | 9.8 | Myelogenous leukemia |
| HeLa | 7.5 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Reduced phosphatase activity |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Impaired substrate binding |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most reported PDP1 mutations are loss-of-function, reducing or abolishing pyruvate dehydrogenase phosphatase activity, leading to PDC inactivation and metabolic imbalance.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PDP1.
Dominant Negative (DN)
No dominant-negative effects have been described; inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004740 – pyruvate dehydrogenase (acetyl-transferring) phosphatase activity | • GO:0005739 – mitochondrion |
| • GO:0005975 – carbohydrate metabolic process | • GO:0016311 – dephosphorylation |
Pathways
• Pyruvate metabolism (KEGG: hsa00620)
• Citric acid cycle (KEGG: hsa00020)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
PDP1 is a mitochondrial protein of 537 amino acids (UniProt Q9P0J1) that functions as a serine/threonine phosphatase. It specifically dephosphorylates the E1 alpha subunit of the pyruvate dehydrogenase complex, thereby activating the complex. The enzyme requires Mg2+ and is stimulated by Ca2+. PDP1 is critical for glucose homeostasis and energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDP1 Knockout HEK293 Cell Line | EDJ-KQ14717 | Human | 54704 | Details Get a Quote |
| PDP1 Knockout A-549 Cell Line | EDJ-KQ45039 | Human | 54704 | Details Get a Quote |
| PDP1 Knockout HCT 116 Cell Line | EDJ-KQ45040 | Human | 54704 | Details Get a Quote |
| PDP1 Knockout HeLa Cell Line | EDJ-KQ45041 | Human | 54704 | Details Get a Quote |
| PDP1 Knockout HAP1 Cell Line | EDC08124 | Human | 54704 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
