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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PNPLA5
patatin like domain 5, triacylglycerol lipase
Chromosome 22 · 22q13.31
NCBI Gene: 150379Ensembl: ENSG00000100341.14HGNC: HGNC:24888UniProt: Q7Z6Z6
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
triacylglycerol lipase activityprotein bindinglipid homeostasistriglyceride catabolic processglycoprotein storage diseaseneuronal ceroid lipofuscinosis 1hemoglobin H diseaseHemoglobin C - beta-thalassemia
✦AI Summary

PNPLA5 is a triacylglycerol lipase belonging to the patatin-like phospholipase domain family with critical roles in lipid metabolism and cellular homeostasis. The protein localizes to lipid droplets through a C-terminal targeting motif containing conserved basic residues 1, where it hydrolyzes triglycerides to mobilize neutral lipids. Beyond lipolysis, PNPLA5 functions in autophagy regulation; the enzyme is required for efficient autophagosome biogenesis by mobilizing lipid droplet-derived lipids to support formation of autophagic membranes 2. This activity is essential for diverse autophagic processes including mitochondrial quality control and microbial clearance. Clinically, rare and low-frequency coding variants in PNPLA5 are significantly associated with altered LDL-cholesterol levels, with effect sizes substantially larger than common variants identified through genome-wide association studies 3. PNPLA5 is being evaluated as a potential diagnostic target for familial hypercholesterolemia cases of unknown genetic etiology 4. However, genetic variation in PNPLA5 does not strongly contribute to childhood obesity 5. These findings establish PNPLA5 as a functionally important lipase with potential relevance to dyslipidemia and cardiovascular risk.

Sources cited
1
PNPLA5 localizes to lipid droplets via a C-terminal targeting motif containing conserved basic residues
PMID: 23741432
2
PNPLA5 is required for efficient autophagy by mobilizing lipid droplet lipids for autophagosome biogenesis
PMID: 24613307
3
Rare/low-frequency PNPLA5 variants are associated with LDL-cholesterol with large effect sizes
PMID: 24507775
4
PNPLA5 is being evaluated as a diagnostic target for familial hypercholesterolemia
PMID: 31795497
5
PNPLA5 genetic variation does not strongly contribute to childhood obesity
PMID: 19390624
Disease Associationsⓘ20
glycoprotein storage diseaseOpen Targets
0.05Suggestive
neuronal ceroid lipofuscinosis 1Open Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
combined immunodeficiency due to OX40 deficiencyOpen Targets
0.04Suggestive
familial isolated congenital aspleniaOpen Targets
0.04Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
Felty's syndromeOpen Targets
0.04Suggestive
acute erythroleukemiaOpen Targets
0.04Suggestive
erythroleukemia, familial, susceptibility toOpen Targets
0.04Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.04Suggestive
hereditary neutrophiliaOpen Targets
0.04Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.04Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.04Suggestive
portal hypertensionOpen Targets
0.04Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.03Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABHD5Protein interaction82%PNPLA4Shared pathway80%PNPLA1Shared pathway80%PLIN1Shared pathway40%ABHD15Shared pathway40%LIPIShared pathway40%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
9%
Ovary
0%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
PNPLA5ABHD5PNPLA4PNPLA1PLIN1ABHD15LIPI
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z6Z6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.79–1.28]
RankingsWhere PNPLA5 stands among ~20K protein-coding genes
  • #15,963of 20,598
    Most Researched14
  • #13,521of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedPNPLA5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genes Potentially Associated with Familial Hypercholesterolemia.
PMID: 31795497
Biomolecules · 2019
1.00
2
Recent developments in genome and exome-wide analyses of plasma lipids.
PMID: 25692345
Curr Opin Lipidol · 2015
0.90
3
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
PMID: 24507775
Am J Hum Genet · 2014
0.80
4
Identification of diverse lipid droplet targeting motifs in the PNPLA family of triglyceride lipases.
PMID: 23741432
PLoS One · 2013
0.70
5
Neutral lipid stores and lipase PNPLA5 contribute to autophagosome biogenesis.
PMID: 24613307
Curr Biol · 2014
0.60