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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PAFAH1B3
platelet activating factor acetylhydrolase 1b catalytic subunit 3
Chromosome 19 · 19q13.2
NCBI Gene: 5050Ensembl: ENSG00000079462.9HGNC: HGNC:8576UniProt: A0A024R0L6
68PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneprotein heterodimerization activityprotein bindingidentical protein bindingautism spectrum disorderlung adenocarcinomahepatocellular carcinomacancer
✦AI Summary

PAFAH1B3 encodes the alpha1 catalytic subunit of cytosolic platelet-activating factor acetylhydrolase type I, a heterotetrameric enzyme that hydrolyzes the acetyl group at the sn-2 position of platelet-activating factor (PAF) and related lipid mediators [UniProt]. The protein functions as both homodimers and heterodimers with PAFAH1B2, with substrate specificity varying by subunit composition. PAFAH1B3 plays a critical developmental role in the brain, as demonstrated by a case of functional hemizygosity due to PAFAH1B3-CLK2 fusion causing mental retardation, ataxia, and brain atrophy 1. In cancer biology, PAFAH1B3 is substantially dysregulated. It is upregulated in pancreatic ductal adenocarcinoma, lung adenocarcinoma, and hepatocellular carcinoma, where high expression associates with poor prognosis and metastatic potential 234. PAFAH1B3 promotes cancer progression through epithelial-mesenchymal transition (EMT) and can exist in both chr19 and extrachromosomal circular DNA forms 53. Knockdown suppresses cell proliferation, invasion, and migration while modulating immune infiltration 6. Beyond cancer, PAFAH1B3 participates in endothelial cell function through insulin-regulated protein palmitoylation at cysteines 56 and 206, affecting angiogenesis and cell migration 7. Proteogenomic analysis identifies PAFAH1B3 as a potential mediator in Parkinson's disease pathogenesis 8. These findings position PAFAH1B3 as both a prognostic biomarker and therapeutic target across multiple diseases.

Sources cited
1
PAFAH1B3 is highly expressed in pancreatic cancer and promotes proliferation, invasion, and metastasis; regulated by KLF9 transcription factor
PMID: 38649699
2
PAFAH1B3 identified as a potential disease mediator in Parkinson's disease through proteogenomic analysis
PMID: 39080267
3
PAFAH1B3 exists in both linear chromosomal and extrachromosomal circular DNA forms and promotes HCC progression via EMT
PMID: 41009369
4
PAFAH1B3 is upregulated in lung adenocarcinoma, predicts poor prognosis, and promotes proliferation, invasion, and EMT
PMID: 35534807
5
PAFAH1B3 truncation via fusion gene causes mental retardation, ataxia, and brain atrophy, demonstrating importance in brain development
PMID: 11285245
6
PAFAH1B3 is upregulated in HCC, associated with poor overall and disease-free survival, and promotes progression through cell cycle and metabolic pathways
PMID: 34490100
7
PAFAH1B3 undergoes insulin-regulated palmitoylation at cysteines 56 and 206, affecting angiogenesis, cell migration, and endothelial function
PMID: 24357059
8
PAFAH1B3 is elevated across pan-cancer, correlates with poor prognosis in NSCLC and LIHC, and modulates immune cell infiltration and drug sensitivity
PMID: 35187070
Disease Associationsⓘ20
autism spectrum disorderOpen Targets
0.33Weak
lung adenocarcinomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
liver cancerOpen Targets
0.03Suggestive
papillary thyroid carcinomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
AtaxiaOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.02Suggestive
Brain atrophyOpen Targets
0.02Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LPCAT2Protein interaction96%LPCAT1Protein interaction96%LPCAT4Protein interaction93%PLA2G7Protein interaction93%PAFAH2Protein interaction91%CEPT1Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
72%
Ovary
26%
Liver
13%
Lung
12%
Heart
4%
Gene Interaction Network
Click a node to explore
PAFAH1B3LPCAT2LPCAT1LPCAT4PLA2G7PAFAH2CEPT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15102
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.45–1.01]
RankingsWhere PAFAH1B3 stands among ~20K protein-coding genes
  • #6,932of 20,598
    Most Researched68
  • #9,863of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedPAFAH1B3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PAFAH1B3 is a KLF9 target gene that promotes proliferation and metastasis in pancreatic cancer.
PMID: 38649699
Sci Rep · 2024
1.00
2
Proteogenomic network analysis reveals dysregulated mechanisms and potential mediators in Parkinson's disease.
PMID: 39080267
Nat Commun · 2024
0.90
3
PAFAH1B3 Exists in Linear Chromosomal and Extrachromosomal Circular DNA and Promotes HCC Progression via EMT.
PMID: 41009369
Int J Mol Sci · 2025
0.80
4
PAFAH1B3 predicts poor prognosis and promotes progression in lung adenocarcinoma.
PMID: 35534807
BMC Cancer · 2022
0.70
5
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.
PMID: 11285245
Hum Mol Genet · 2001
0.60