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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PEDS1
plasmanylethanolamine desaturase 1
Chromosome 20 · 20q13.13
NCBI Gene: 387521Ensembl: ENSG00000240849.12HGNC: HGNC:16735UniProt: A5PLL7
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ether lipid biosynthetic processplasmanylethanolamine desaturase activityendoplasmic reticulum membraneendoplasmic reticulumbenign colon neoplasmduodenal ulcerbreast cancerPlatelet-activating factor acetylhydrolase deficiency
✦AI Summary

PEDS1 (plasmanylethanolamine desaturase 1) is a transmembrane enzyme located in the endoplasmic reticulum that catalyzes the final step of plasmalogen biosynthesis by introducing a vinyl ether double bond into plasmanylethanolamine phospholipids 1. Plasmalogens are specialized glycerophospholipids with unique antioxidative properties and roles in membrane organization and signaling 2. The enzyme contains eight conserved histidines essential for activity and requires a critical aspartate residue (Asp100) for function 1. PEDS1 deficiency causes striking metabolic consequences, including massive accumulation of plasmanyl lipids and severe reduction of plasmenyl lipids across tissues 3. Clinically, PEDS1 mutations are associated with neurodevelopmental disorders, including microcephaly, global developmental delay, and congenital cataracts 4. In mouse models, Peds1 knockout results in growth phenotypes, accelerated neuronal cell-cycle exit, and impaired neuronal differentiation and migration 4. The enzyme also regulates ether lipid homeostasis in adipocytes and correlates with circulating lipid profiles 5. Additionally, PEDS1 genetic variants are associated with Long COVID susceptibility 6, and the gene plays a role in cancer cell resistance to oxidative stress through lipid peroxidation protection 7.

Sources cited
1
PEDS1 is a transmembrane enzyme that catalyzes vinyl ether bond formation and requires conserved histidines and aspartate residue for activity
PMID: 35347434
2
PEDS1 catalyzes the final step of plasmalogen biosynthesis and plasmalogens have antioxidative properties
PMID: 35646900
3
PEDS1 deficiency causes massive accumulation of plasmanyl lipids and reduction of plasmenyl lipids
PMID: 36690320
4
PEDS1 mutations cause neurodevelopmental disorders and knockout mice show growth and neuronal differentiation defects
PMID: 41491239
5
PEDS1 regulates ether lipid homeostasis in adipocytes and correlates with blood lipid profiles
PMID: 41580817
6
PEDS1 genetic variants are associated with Long COVID susceptibility
PMID: 37497655
7
PEDS1 protects cancer cells against lipid peroxidation and oxidative stress
PMID: 41360761
Disease Associationsⓘ20
benign colon neoplasmOpen Targets
0.15Weak
duodenal ulcerOpen Targets
0.11Weak
breast cancerOpen Targets
0.08Suggestive
Platelet-activating factor acetylhydrolase deficiencyOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
familial hypobetalipoproteinemia 2Open Targets
0.06Suggestive
apolipoprotein c-III deficiencyOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
Oral ulcerOpen Targets
0.04Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.04Suggestive
Breast hypertrophyOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.03Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
Intermediate osteopetrosisOpen Targets
0.03Suggestive
OligodontiaOpen Targets
0.03Suggestive
tooth agenesisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBCProtein interaction100%UBE2V1Protein interaction99%LPCAT4Protein interaction93%CEPT1Protein interaction93%PLD1Protein interaction92%PLD2Protein interaction92%
Tissue Expression6 tissues
Lung
100%
Liver
76%
Bone Marrow
74%
Brain
72%
Heart
45%
Ovary
34%
Gene Interaction Network
Click a node to explore
PEDS1UBCUBE2V1LPCAT4CEPT1PLD1PLD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A5PLL7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.23Tolerant
Observed/Expected LoF0.42 [0.27–0.67]
RankingsWhere PEDS1 stands among ~20K protein-coding genes
  • #12,636of 20,598
    Most Researched27
  • #4,926of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedPEDS1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Alterations in ether lipid metabolism and the consequences for the mouse lipidome.
PMID: 36690320
Biochim Biophys Acta Mol Cell Biol Lipids · 2023
1.00
2
Plasmalogens and Photooxidative Stress Signaling in Myxobacteria, and How it Unmasked CarF/TMEM189 as the Δ1'-Desaturase PEDS1 for Human Plasmalogen Biosynthesis.
PMID: 35646900
Front Cell Dev Biol · 2022
0.90
3
CRISPR knockout screens reveal genes and pathways essential for neuronal differentiation and implicate PEDS1 in neurodevelopment.
PMID: 41491239
Nat Neurosci · 2026
0.80
4
Essential role of a conserved aspartate for the enzymatic activity of plasmanylethanolamine desaturase.
PMID: 35347434
Cell Mol Life Sci · 2022
0.70
5
A bidirectional pedestrian macroscopic speed model construction based on pedestrian microscopic simulation experiments.
PMID: 39374208
PLoS One · 2024
0.60