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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GNPAT
glyceronephosphate O-acyltransferase
Chromosome 1 Β· 1q42.2
NCBI Gene: 8443Ensembl: ENSG00000116906.14HGNC: HGNC:4416UniProt: O15228
77PubMed Papers
21Diseases
0Drugs
65Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ether lipid biosynthetic processperoxisomemembraneglycerone-phosphate O-acyltransferase activityrhizomelic chondrodysplasia punctata type 2rhizomelic chondrodysplasia punctataneurodegenerative diseaseglyceronephosphate O-acyltransferase deficiency
✦AI Summary

GNPAT (glyceronephosphate O-acyltransferase) is a peroxisomal enzyme that catalyzes the first committed step in plasmalogen biosynthesis by acylating dihydroxyacetone phosphate 1. Plasmalogens are ether lipids with a distinctive vinyl ether linkage at the sn-1 position of the glycerol backbone, conferring unique biophysical properties essential for cell signaling and membrane function 2. Beyond canonical plasmalogen synthesis, GNPAT participates in broader metabolic regulation. Post-translational acetylation of GNPAT by ACAT1 at lysine 128 stabilizes the lipogenic enzyme FASN by preventing TRIM21-mediated degradation, promoting hepatic lipid metabolism and hepatocarcinogenesis 3. Peroxisome-derived plasmalogens regulate mitochondrial dynamics in adipose tissue; GNPAT knockdown impairs cold-induced mitochondrial fission and thermogenesis, effects rescued by plasmalogen supplementation 4. In lung tissue, GNPAT stabilizes the mitochondrial fission protein DRP1 through USP30-mediated interactions, contributing to mitochondrial dysfunction and cell apoptosis in COPD 5. Clinically, GNPAT mutations cause rhizomelic chondrodysplasia punctata 2 and developmental ocular defects 2. Genetic variants associate with post-stroke neurological instability through putative excitotoxicity pathways 6, while GNPAT does not directly regulate systemic iron homeostasis 7. Expression modulation via structural variants influences high-altitude adaptation in Tibetan cattle 8.

Sources cited
1
GNPAT encodes dihydroxyacetone phosphate acyltransferase, the first peroxisomal enzyme in etherphospholipid biosynthesis; gene is located on chromosome 1q42.12-43
PMID: 11237722
2
GNPAT catalyzes initial acylation step in plasmalogen synthesis; deficiency causes rhizomelic chondrodysplasia punctata type 2 with ocular developmental defects
PMID: 37204785
3
ACAT1-mediated acetylation of GNPAT at K128 stabilizes FASN and promotes lipid metabolism and hepatocarcinogenesis
PMID: 31974474
4
GNPAT is essential for peroxisomal plasmalogen synthesis; GNPAT knockdown impairs cold-induced mitochondrial fission and thermogenesis in adipose tissue
PMID: 30511960
5
GNPAT promotes mitochondrial fission through USP30-mediated stabilization of DRP1, contributing to mitochondrial dysfunction in COPD
PMID: 40709564
6
GNPAT variant nominated by gene-based analysis as associated with early neurological instability after ischemic stroke
PMID: 35213696
7
GNPAT deletion does not significantly affect systemic iron homeostasis or hepcidin expression in murine models
PMID: 32108988
8
Structural variations in GNPAT intron associated with high-altitude adaptation in Tibetan cattle
PMID: 40470718
Disease Associationsβ“˜21
rhizomelic chondrodysplasia punctata type 2Open Targets
0.82Strong
rhizomelic chondrodysplasia punctataOpen Targets
0.61Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
glyceronephosphate O-acyltransferase deficiencyOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.36Weak
lysosomal storage diseaseOpen Targets
0.36Weak
multiple sclerosisOpen Targets
0.36Weak
Parkinson diseaseOpen Targets
0.36Weak
preeclampsiaOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
autismOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
autism spectrum disorderOpen Targets
0.05Suggestive
behavioral variant of frontotemporal dementiaOpen Targets
0.05Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.05Suggestive
Pick diseaseOpen Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
childhood disintegrative disorderOpen Targets
0.05Suggestive
Rhizomelic chondrodysplasia punctata 2UniProt
Pathogenic Variants65
NM_014236.4(GNPAT):c.632G>A (p.Arg211His)Pathogenic
Rhizomelic chondrodysplasia punctata type 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 211
NM_014236.4(GNPAT):c.1483del (p.Leu494_Val495insTer)Pathogenic
not provided|Rhizomelic chondrodysplasia punctata type 2
β˜…β˜…β˜†β˜†2024β†’ Residue 494
NM_014236.4(GNPAT):c.1429_1430del (p.Met477fs)Pathogenic
Rhizomelic chondrodysplasia punctata type 2
β˜…β˜…β˜†β˜†2024β†’ Residue 477
NM_014236.4(GNPAT):c.849_850dup (p.Tyr284fs)Pathogenic
Rhizomelic chondrodysplasia punctata type 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 284
NM_014236.4(GNPAT):c.1158G>A (p.Trp386Ter)Pathogenic
not provided|Rhizomelic chondrodysplasia punctata type 2
β˜…β˜…β˜†β˜†2024β†’ Residue 386
NM_014236.4(GNPAT):c.180T>A (p.Tyr60Ter)Pathogenic
Rhizomelic chondrodysplasia punctata type 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 60
NM_014236.4(GNPAT):c.487C>T (p.Arg163Ter)Pathogenic
Rhizomelic chondrodysplasia punctata type 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 163
NM_014236.4(GNPAT):c.574del (p.Leu192fs)Pathogenic
Rhizomelic chondrodysplasia punctata type 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 192
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)Likely pathogenic
Rhizomelic chondrodysplasia punctata type 2|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2023β†’ Residue 211
NM_014236.4(GNPAT):c.1583_1586del (p.Leu528fs)Pathogenic
not provided|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2023β†’ Residue 528
NM_014236.4(GNPAT):c.1003C>T (p.Arg335Ter)Likely pathogenic
not provided|GNPAT-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 335
NM_014236.4(GNPAT):c.1285A>T (p.Lys429Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 429
NM_014236.4(GNPAT):c.1602+1G>APathogenic
Rhizomelic chondrodysplasia punctata type 2
β˜…β˜†β˜†β˜†2025
NM_014236.4(GNPAT):c.647_659dup (p.Trp220Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 220
NM_014236.4(GNPAT):c.954del (p.Glu319fs)Likely pathogenic
Rhizomelic chondrodysplasia punctata type 2
β˜…β˜†β˜†β˜†2024β†’ Residue 319
NM_014236.4(GNPAT):c.925-2delLikely pathogenic
Rhizomelic chondrodysplasia punctata type 2
β˜…β˜†β˜†β˜†2024
NM_014236.4(GNPAT):c.876_877del (p.Tyr293fs)Likely pathogenic
Rhizomelic chondrodysplasia punctata type 2
β˜…β˜†β˜†β˜†2024β†’ Residue 293
NM_014236.4(GNPAT):c.569-3T>GPathogenic
Rhizomelic chondrodysplasia punctata type 2
β˜…β˜†β˜†β˜†2024
NM_014236.4(GNPAT):c.256A>T (p.Lys86Ter)Likely pathogenic
Rhizomelic chondrodysplasia punctata type 2
β˜…β˜†β˜†β˜†2024β†’ Residue 86
NM_014236.4(GNPAT):c.1712del (p.Gly571fs)Likely pathogenic
Rhizomelic chondrodysplasia punctata type 2
β˜…β˜†β˜†β˜†2024β†’ Residue 571
View on ClinVar β†—
Related Genes
PEX19Protein interaction100%PEX2Protein interaction100%SCP2Protein interaction100%PLPP2Protein interaction98%PLPP3Protein interaction97%LPIN3Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Brain
57%
Liver
47%
Lung
45%
Ovary
40%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
GNPATPEX19PEX2SCP2PLPP2PLPP3LPIN3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O15228
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.57Moderately Constrained
pLIβ“˜
0.88Intermediate
Observed/Expected LoF0.33 [0.20–0.57]
RankingsWhere GNPAT stands among ~20K protein-coding genes
  • #6,160of 20,598
    Most Researched77
  • #1,107of 5,498
    Most Pathogenic Variants65 Β· top quartile
  • #3,772of 17,882
    Most Constrained (LOEUF)0.57 Β· top quartile
Genes detectedGNPAT
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Stabilization of FASN by ACAT1-mediated GNPAT acetylation promotes lipid metabolism and hepatocarcinogenesis.
PMID: 31974474
Oncogene Β· 2020
1.00
2
Peroxisome-derived lipids regulate adipose thermogenesis by mediating cold-induced mitochondrial fission.
PMID: 30511960
J Clin Invest Β· 2019
0.90
3
Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke.
PMID: 35213696
Brain Β· 2022
0.80
4
GNPAT/USP30 Stabilizes DRP1 Protein to Promote Mitochondrial Fission and Functional Damage in COPD Progression.
PMID: 40709564
Kaohsiung J Med Sci Β· 2025
0.70
5
Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations.
PMID: 11237722
Biochem Biophys Res Commun Β· 2001
0.60