PAFAH1B3 Gene

Name	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
Description	This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPAFAH1B3 is a critical component of the type I platelet‐activating factor (PAF) acetylhydrolase complex whose functions extend beyond classical lipid metabolism. In neural cells, PAFAH1B3 (in conjunction with its homolog PAFAH1B2) has been shown to modulate cytoplasmic dynein function by competing with dynein‐associated factors such as Lis1, thereby affecting the organization of organelles (e.g., Golgi apparatus and endosomes) and ultimately influencing neuronal migration and mitotic progression. This antagonistic regulation is particularly evident when PAFAH1B3’s overexpression disrupts normal Lis1 binding, which may underlie developmental defects when Lis1 levels are reduced."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "PAFAH1B3 also contributes to drug metabolism; as part of the erythrocyte type I PAF acetylhydrolase, it participates in the deacetylation of aspirin. In these cells, competitive inhibition by PAF suggests that the enzyme exhibits substrate specificity, and while recombinant studies indicate that PAFAH1B2 may be primarily responsible for aspirin hydrolysis, PAFAH1B3 remains an integral subunit of the complex."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "In the cancer arena, metabolic mapping and activity‐based protein profiling studies have identified PAFAH1B3 as a key metabolic driver. Its upregulation in primary human breast tumors and in diverse cancer types—including ovarian, melanoma, and prostate cancers—is correlated with poor prognosis. Importantly, inactivation of PAFAH1B3 impairs cancer pathogenicity by elevating levels of tumor‐suppressing lipid second messengers, highlighting its role as a critical metabolic node sustaining oncogenic signaling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "Further, investigations in hematologic malignancies have begun to illuminate the prognostic value of PAFAH1B3. In multiple myeloma, for instance, the expression level of PAFAH1B3 in bone marrow CD138+ cells of patients undergoing autologous hematopoietic stem cell transplantation has been associated with clinical outcomes, suggesting that this enzyme could serve as a biomarker for predicting prognosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "Finally, in pancreatic ductal adenocarcinoma, PAFAH1B3 is markedly overexpressed and functionally contributes to malignant progression by promoting cell proliferation, invasion, migration, and metastasis. Mechanistic studies reveal that the tumor suppressor KLF9 directly binds to and represses the PAFAH1B3 promoter; consequently, loss of KLF9 regulation leads to enhanced PAFAH1B3 expression and drives oncogenic phenotypes in pancreatic cancer cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Chong Ding, Xujun Liang, Li Ma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Opposing effects of Ndel1 and alpha1 or alpha2 on cytoplasmic dynein through competitive binding to Lis1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.048777"}], "href": "https://doi.org/10.1242/jcs.048777"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19622634"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19622634"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Gang Zhou, Gopal K Marathe, Belinda Willard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Intracellular erythrocyte platelet-activating factor acetylhydrolase I inactivates aspirin in blood."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111.267161"}], "href": "https://doi.org/10.1074/jbc.M111.267161"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21844189"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21844189"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Melinda M Mulvihill, Daniel I Benjamin, Xiaodan Ji, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Metabolic profiling reveals PAFAH1B3 as a critical driver of breast cancer pathogenicity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Chem Biol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.chembiol.2014.05.008"}], "href": "https://doi.org/10.1016/j.chembiol.2014.05.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24954006"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24954006"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Rebecca A Kohnz, Melinda M Mulvihill, Jae Won Chang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Activity-Based Protein Profiling of Oncogene-Driven Changes in Metabolism Reveals Broad Dysregulation of PAFAH1B2 and 1B3 in Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "ACS Chem Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/acschembio.5b00053"}], "href": "https://doi.org/10.1021/acschembio.5b00053"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25945974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25945974"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Zhe-Yun Gu, Jian Tao, Yi-Feng Cai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Correlation between "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "PAFAH1B3"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Expression Level and Risk of Disease Progression After Autologous Hematopoietic Stem Cell Transplantation in Multiple Myeloma Patients]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhongguo Shi Yan Xue Ye Xue Za Zhi (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.19746/j.cnki.issn.1009-2137.2023.02.020"}], "href": "https://doi.org/10.19746/j.cnki.issn.1009-2137.2023.02.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37096518"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37096518"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Cairong Dong, Jinping Yao, Zhipeng Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PAFAH1B3 is a KLF9 target gene that promotes proliferation and metastasis in pancreatic cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-024-59427-3"}], "href": "https://doi.org/10.1038/s41598-024-59427-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38649699"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38649699"}]}]}]}
Synonyms	PAFAHG
Proteins	PA1B3_HUMAN
NCBI Gene ID	5050
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PAFAH1B3 has 8,204 functional associations with biological entities spanning 7 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA) extracted from 114 datasets.

Click the + buttons to view associations for PAFAH1B3 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PAFAH1B3 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PAFAH1B3 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PAFAH1B3 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PAFAH1B3 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PAFAH1B3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PAFAH1B3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PAFAH1B3 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PAFAH1B3 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PAFAH1B3 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PAFAH1B3 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of PAFAH1B3 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PAFAH1B3 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PAFAH1B3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PAFAH1B3 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PAFAH1B3 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PAFAH1B3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PAFAH1B3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PAFAH1B3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PAFAH1B3 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PAFAH1B3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PAFAH1B3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing PAFAH1B3 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PAFAH1B3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PAFAH1B3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PAFAH1B3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PAFAH1B3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PAFAH1B3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PAFAH1B3 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PAFAH1B3 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PAFAH1B3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PAFAH1B3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PAFAH1B3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PAFAH1B3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PAFAH1B3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PAFAH1B3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for PAFAH1B3 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PAFAH1B3 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PAFAH1B3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PAFAH1B3 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing PAFAH1B3 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of PAFAH1B3 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.