PISD
Phosphatidylserine Decarboxylase
Gene Information Card
| Symbol | PISD |
|---|---|
| Full Name | Phosphatidylserine Decarboxylase |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 23761 ncbi.nlm.nih.gov/gene/23761 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q9UG56 |
| OMIM ID | 612770 |
| HGNC ID | 17849 |
| Aliases | PSD, PISD1, PSDC |
Description
The PISD gene encodes phosphatidylserine decarboxylase, a mitochondrial enzyme that catalyzes the decarboxylation of phosphatidylserine to phosphatidylethanolamine, a critical step in phospholipid biosynthesis. This enzyme is essential for mitochondrial membrane integrity and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| PISD deficiency (mitochondrial disorder) | Loss of PISD function impairs phosphatidylethanolamine synthesis, leading to mitochondrial dysfunction and multisystem disease. | OMIM #612770; ClinVar pathogenic variants |
| Hereditary spastic paraplegia (rare association) | Disrupted phospholipid metabolism affects neuronal membrane homeostasis. | Case reports; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 7.1 | Medium |
| Skeletal Muscle | 6.9 | Medium |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocyte model |
| SH-SY5Y | 9.8 | Neuronal model |
| HeLa | 7.5 | Cervical cancer line |
| K562 | 6.1 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.836G>A (p.Arg279His) | Missense | <0.01% | Reduced enzyme activity; associated with PISD deficiency |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of protein expression; pathogenic in ClinVar |
| c.103C>T (p.Arg35Trp) | Missense | <0.01% | Impaired catalytic function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants reduce or abolish decarboxylase activity, leading to phosphatidylethanolamine deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylserine decarboxylase activity (GO:0004609) | • phosphatidylethanolamine biosynthetic process (GO:0006646) |
| • mitochondrion (GO:0005739) | • membrane (GO:0016020) |
Pathways
• Phospholipid metabolism (Reactome: R-HSA-1483206)
• Glycerophospholipid biosynthesis (KEGG: hsa00564)
Protein Summary
Phosphatidylserine decarboxylase (PISD) is a 409-amino-acid mitochondrial inner membrane enzyme that converts phosphatidylserine to phosphatidylethanolamine. It contains a pyruvoyl cofactor derived from an autocatalytic cleavage. The enzyme is critical for mitochondrial phospholipid homeostasis and cellular membrane biogenesis.
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