PTPMT1: Protein Tyrosine Phosphatase Mitochondrial 1
A mitochondrial phosphatase critical for cardiolipin biosynthesis and energy metabolism
Gene Information Card
| Symbol | PTPMT1 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Mitochondrial 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 114971 ncbi.nlm.nih.gov/gene/114971 |
| Ensembl ID | ENSG00000110514 |
| UniProt ID | Q8WUK0 |
| OMIM ID | 611696 |
| HGNC ID | 26585 |
| Aliases | PLIP, PNAS-2, PTEN-like phosphatase |
Description
PTPMT1 encodes a mitochondrial protein tyrosine phosphatase that localizes to the inner mitochondrial membrane. It is essential for the dephosphorylation of phosphatidylglycerol phosphate (PGP) to phosphatidylglycerol (PG), a key step in cardiolipin biosynthesis. Cardiolipin is a critical phospholipid for mitochondrial membrane integrity and function. PTPMT1 also regulates mitochondrial energy metabolism and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Loss of PTPMT1 disrupts cardiolipin synthesis, impairing electron transport chain assembly and function | Knockout mouse models show embryonic lethality and mitochondrial dysfunction (PMID: 21504829) |
| Metabolic syndrome (potential) | Altered cardiolipin composition affects insulin sensitivity and energy expenditure | Association studies in human populations (PMID: 23429458) |
| Cancer (potential) | PTPMT1 overexpression may promote tumor cell survival via mitochondrial stability | Expression data from COSMIC and TCGA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 18.3 | High |
| Skeletal Muscle | 15.7 | High |
| Brain | 8.2 | Low |
| Kidney | 10.1 | Medium |
| Pancreas | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 11.8 | Medium expression |
| HepG2 | 13.5 | High expression |
| K562 | 7.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% (gnomAD) | Reduced phosphatase activity; potential loss of function |
| c.458G>A (p.Arg153Gln) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.01% (gnomAD) | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in catalytic domain (e.g., p.Arg113Trp) reduce or abolish phosphatase activity, impairing cardiolipin synthesis.
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)
| • Phosphatidylglycerol phosphatase activity (GO:0052739) | • Protein tyrosine phosphatase activity (GO:0004725) |
| • Mitochondrial inner membrane (GO:0005743) | • Cardiolipin biosynthetic process (GO:0008808) |
| • Mitochondrial electron transport chain (GO:0006120) |
Pathways
• Cardiolipin biosynthesis (Reactome: R-HSA-1483206)
• Mitochondrial biogenesis (Reactome: R-HSA-1592230)
Protein Summary
PTPMT1 is a 200-amino acid protein (22 kDa) localized to the inner mitochondrial membrane. It contains a conserved PTP (protein tyrosine phosphatase) domain with a unique active site motif (HCXXGXXR). The enzyme catalyzes the dephosphorylation of phosphatidylglycerol phosphate (PGP) to phosphatidylglycerol (PG), the penultimate step in cardiolipin synthesis. PTPMT1 is essential for mitochondrial function, and its loss leads to severe mitochondrial defects and embryonic lethality in mice.
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