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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GDPD1
glycerophosphodiester phosphodiesterase domain containing 1
Chromosome 17 · 17q22
NCBI Gene: 284161Ensembl: ENSG00000153982.11HGNC: HGNC:20883UniProt: Q8N9F7
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
N-acylethanolamine metabolic processendoplasmic reticulumphosphoric diester hydrolase activitymembraneanemiatype 1 diabetes mellitusprostate cancerbreast cancer
✦AI Summary

GDPD1 (glycerophosphodiester phosphodiesterase domain containing 1) is a lipid-metabolizing enzyme that hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and corresponding amines 12. The enzyme shows substrate preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF), lysophosphatidylethanolamine (lyso-PE), and lysophosphatidylcholine (lyso-PC), and participates in bioactive N-acylethanolamine biosynthesis 12. GDPD1 expression is predominantly localized to the ovary and small intestine 3. Mechanistically, GDPD1 mRNA stability is regulated by the RNA-binding protein hnRNP Q1; viral infection can destabilize GDPD1 mRNA through hnRNP Q1 degradation, promoting aerobic glycolysis in cancer contexts 4. Clinically, structural variants affecting GDPD1 regulatory elements cause autosomal dominant retinitis pigmentosa type 17 (RP17). These variants create neo-topologically associating domains (neo-TADs) enabling ectopic contact between retinal enhancers and the GDPD1 promoter, resulting in increased retinal GDPD1 expression through a dominant gain-of-function mechanism 56. Notably, GDPD1 knockout mice remain fertile, suggesting non-essential roles in reproductive fertility 7.

Sources cited
1
GDPD1 hydrolyzes lysoglycerophospholipids to produce LPA and amines; substrate specificity for lyso-PAF, lyso-PE, lyso-PC
PMID: 25596343
2
GDPD1 substrate preferences and role in N-acylethanolamine biosynthesis
PMID: 27637550
3
GDPD1 splice variant expression predominantly in human ovary and small intestine
PMID: 14612981
4
hnRNP Q1 stabilizes GDPD1 mRNA; viral vIRF1 destabilizes GDPD1 mRNA through hnRNP Q1 degradation to promote aerobic glycolysis
PMID: 35538151
5
RP17 structural variants create neo-TADs with ectopic retinal enhancer-GDPD1 contacts, increasing GDPD1 expression as disease mechanism
PMID: 33022222
6
Novel RP17-associated structural variants predicted to alter TAD structure and create retinal enhancer-GDPD1 contact
PMID: 39507620
7
GDPD1 knockout mice are fertile, indicating non-essential role in male reproductive fertility
PMID: 31455729
Disease Associationsⓘ20
anemiaOpen Targets
0.04Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
invasive breast ductal carcinomaOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
myelodysplastic syndromeOpen Targets
0.00Suggestive
astrocytomaOpen Targets
0.00Suggestive
acneOpen Targets
0.00Suggestive
asthmaOpen Targets
0.00Suggestive
breast neoplasmOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
Leigh syndromeOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
myeloid sarcomaOpen Targets
0.00Suggestive
neurodegenerative diseaseOpen Targets
0.00Suggestive
retinal degenerationOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
Cerebral ischemiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LPAR1Protein interaction99%ENPP2Protein interaction99%LPAR2Protein interaction99%LPAR6Protein interaction99%ENPP3Protein interaction93%LPCAT4Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
49%
Heart
20%
Ovary
9%
Liver
6%
Lung
6%
Gene Interaction Network
Click a node to explore
GDPD1LPAR1ENPP2LPAR2LPAR6ENPP3LPCAT4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N9F7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.67–1.70]
RankingsWhere GDPD1 stands among ~20K protein-coding genes
  • #13,196of 20,598
    Most Researched24
  • #16,116of 17,882
    Most Constrained (LOEUF)1.70
Genes detectedGDPD1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
A novel splice variant of human gene GDPD1 is mainly expressed in human ovary and small intestine.
PMID: 14612981
Int J Mol Med · 2003
1.00
2
Alteration of N6-methyladenosine modification profiles in the neutrophilic RNAs following ischemic stroke.
PMID: 38945353
Neuroscience · 2024
0.86
3
Hepatotoxicity induced by PPⅥ and PPⅦ in zebrafish were related to the Cholesterol disorder.
PMID: 34782205
Phytomedicine · 2022
0.71
4
A viral interferon regulatory factor degrades RNA-binding protein hnRNP Q1 to enhance aerobic glycolysis via recruiting E3 ubiquitin ligase KLHL3 and decaying GDPD1 mRNA.
PMID: 35538151
Cell Death Differ · 2022
0.57
5
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
PMID: 39507620
Front Genet · 2024
0.43