PGS1 (Phosphatidylglycerophosphate Synthase 1)
Key enzyme in cardiolipin biosynthesis, essential for mitochondrial function
Gene Information Card
| Symbol | PGS1 |
|---|---|
| Full Name | phosphatidylglycerophosphate synthase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 9489 ncbi.nlm.nih.gov/gene/9489 |
| Ensembl ID | ENSG00000108821 |
| UniProt ID | O14905 |
| OMIM ID | 617793 |
| HGNC ID | 8812 |
| Aliases | PGS1, CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, PGP synthase, PGP synthase 1 |
Description
The PGS1 gene encodes phosphatidylglycerophosphate synthase 1, an enzyme localized to the mitochondrial inner membrane that catalyzes the first committed step in cardiolipin biosynthesis: the transfer of a phosphatidyl group from CDP-diacylglycerol to sn-glycerol-3-phosphate to form phosphatidylglycerophosphate (PGP). Cardiolipin is a critical phospholipid for mitochondrial structure and function, including oxidative phosphorylation and apoptosis. Mutations in PGS1 are associated with mitochondrial disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 53 (COXPD53) | Loss-of-function mutations impair cardiolipin synthesis, disrupting mitochondrial energy production | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Reduced cardiolipin affects assembly/stability of respiratory chain complexes | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 8.7 | Medium |
| Liver | 6.1 | Low |
| Brain | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.2 | Cervical cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| HepG2 | 6.0 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | Rare | Loss of protein expression |
| c.404C>T (p.Pro135Leu) | Missense | Rare | Reduced enzymatic activity |
| c.742G>A (p.Gly248Arg) | Missense | Rare | Impaired cardiolipin synthesis |
Mutation functional classification
Loss of Function (LOF)
Most reported PGS1 mutations are loss-of-function, leading to reduced cardiolipin levels and mitochondrial dysfunction.
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)
Pathways
• Cardiolipin biosynthesis (Reactome: R-HSA-1483206)
• Glycerophospholipid metabolism (KEGG: hsa00564)
Protein Summary
Phosphatidylglycerophosphate synthase 1 (PGS1) is a 563-amino acid protein anchored in the mitochondrial inner membrane. It catalyzes the conversion of CDP-diacylglycerol and sn-glycerol-3-phosphate to phosphatidylglycerophosphate, a precursor of cardiolipin. The enzyme is essential for maintaining mitochondrial membrane integrity and respiratory chain function. Defects in PGS1 lead to combined oxidative phosphorylation deficiency.
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