PPTC7
Protein Phosphatase Targeting COQ7
Gene Information Card
| Symbol | PPTC7 |
|---|---|
| Full Name | Protein Phosphatase Targeting COQ7 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 160760 ncbi.nlm.nih.gov/gene/160760 |
| Ensembl ID | ENSG00000196821 |
| UniProt ID | Q8N3Z0 |
| OMIM ID | 617392 |
| HGNC ID | 25142 |
| Aliases | C12orf57, HSPC133 |
Description
PPTC7 encodes a mitochondrial protein phosphatase that dephosphorylates COQ7, a key enzyme in coenzyme Q10 (ubiquinone) biosynthesis. This regulation is essential for mitochondrial respiratory chain function and cellular energy production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coenzyme Q10 deficiency, primary, 8 | Impaired COQ7 dephosphorylation leads to reduced CoQ10 synthesis | OMIM #617392 |
| Mitochondrial complex III deficiency | Dysregulation of CoQ10 biosynthesis affects electron transport chain | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 25.6 | Medium |
| Skeletal muscle | 18.3 | Medium |
| Liver | 12.1 | Low |
| Kidney | 15.4 | Medium |
| Brain | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.5 | Embryonic kidney cells |
| HeLa | 19.8 | Cervical carcinoma cells |
| HepG2 | 14.2 | Hepatocellular carcinoma cells |
| K562 | 11.3 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; truncated protein |
| c.485G>A (p.Arg162Gln) | Missense | Rare | Impaired phosphatase activity |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants lead to absent or truncated PPTC7, reducing COQ7 dephosphorylation and CoQ10 levels.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • Protein serine/threonine phosphatase activity | • Mitochondrion |
| • Coenzyme Q biosynthetic process | • Dephosphorylation |
Pathways
• Ubiquinone biosynthesis
• Mitochondrial electron transport
• CoQ10 to cytochrome c
Protein Summary
PPTC7 is a 34 kDa mitochondrial protein phosphatase that specifically targets COQ7. It removes phosphate groups from COQ7, activating it for coenzyme Q10 biosynthesis. Loss of PPTC7 function leads to CoQ10 deficiency and mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPTC7 Knockout HEK293 Cell Line | EDJ-KQ14867 | Human | 160760 | Details Get a Quote |
| PPTC7 Knockout HeLa Cell Line | EDJ-KQ44055 | Human | 160760 | Details Get a Quote |
| PPTC7 Knockout A-549 Cell Line | EDJ-KQ45323 | Human | 160760 | Details Get a Quote |
| PPTC7 Knockout HCT 116 Cell Line | EDJ-KQ45324 | Human | 160760 | Details Get a Quote |
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