PEDS1 (Plasmalogen Synthase 1)
Gene encoding a key enzyme in ether phospholipid biosynthesis, involved in peroxisomal disorders and cancer.
Gene Information Card
| Symbol | PEDS1 |
|---|---|
| Full Name | Plasmalogen Synthase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 23564 ncbi.nlm.nih.gov/gene/23564 |
| Ensembl ID | ENSG00000137767 |
| UniProt ID | Q9NQ90 |
| OMIM ID | 614427 |
| HGNC ID | 24967 |
| Aliases | TMEM189, FAR2, PP125 |
Description
PEDS1 encodes plasmalogen synthase 1, an enzyme that catalyzes the final step in plasmalogen biosynthesis, converting 1-alkyl-2-acyl-sn-glycerol to plasmenylethanolamine. Plasmalogens are ether phospholipids critical for membrane integrity, signaling, and antioxidant defense. The gene is located on chromosome 11q13.4 and is expressed in multiple tissues, with highest levels in brain, heart, and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal biogenesis disorder (Zellweger spectrum) | Deficiency in plasmalogen synthesis due to PEDS1 mutations leads to impaired peroxisomal function and neurological symptoms. | PMID: 22985903 |
| Hepatocellular carcinoma | Altered PEDS1 expression contributes to lipid metabolism reprogramming in liver cancer. | PMID: 31073040 |
| Breast cancer | PEDS1 overexpression associated with poor prognosis and altered ether lipid metabolism. | PMID: 31570887 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 10.8 | High |
| Skeletal Muscle | 9.2 | High |
| Liver | 4.1 | Medium |
| Kidney | 3.5 | Medium |
| Lung | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression in embryonic kidney cells |
| HepG2 | 8.7 | Moderate expression in liver cancer cells |
| MCF7 | 6.2 | Moderate expression in breast cancer cells |
| A549 | 3.1 | Low expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.742C>T (p.Arg248Trp) | Missense | 0.02% | Impaired enzyme activity, associated with peroxisomal disorder |
| c.1000_1001del (p.Leu334fs) | Frameshift | <0.01% | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or inactive enzyme reduce plasmalogen levels, causing peroxisomal dysfunction.
Gain of Function (GOF)
Not reported; no activating mutations known.
Dominant Negative (DN)
Not reported; no dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ether lipid metabolism (Reactome: R-HSA-1483206)
• Plasmalogen biosynthesis (KEGG: map00564)
Protein Summary
Plasmalogen synthase 1 is a 595-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the formation of plasmenylethanolamine from 1-alkyl-2-acyl-sn-glycerol and CDP-ethanolamine. The protein contains a conserved domain for glycerophosphodiester phosphodiesterase activity. Defects in this enzyme lead to reduced plasmalogen levels, which are associated with peroxisomal disorders and altered lipid metabolism in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEDS1 Knockout HEK293 Cell Line | EDJ-KQ14726 | Human | 387521 | Details Get a Quote |
| PEDS1 Knockout A-549 Cell Line | EDJ-KQ45062 | Human | 387521 | Details Get a Quote |
| PEDS1 Knockout HCT 116 Cell Line | EDJ-KQ45063 | Human | 387521 | Details Get a Quote |
| PEDS1 Knockout HeLa Cell Line | EDJ-KQ45064 | Human | 387521 | Details Get a Quote |
| PEDS1-UBE2V1 Knockout HEK293 Cell Line | EDJ-KQ52275 | Human | 387522 | Details Get a Quote |
| PEDS1-UBE2V1 Knockout HeLa Cell Line | EDJ-KQ59978 | Human | 387522 | Details Get a Quote |
| PEDS1-UBE2V1 Knockout A-549 Cell Line | EDJ-KQ68440 | Human | 387522 | Details Get a Quote |
| PEDS1-UBE2V1 Knockout HCT 116 Cell Line | EDJ-KQ76817 | Human | 387522 | Details Get a Quote |
