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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLEKHF1
pleckstrin homology and FYVE domain containing 1
Chromosome 19 · 19q12
NCBI Gene: 79156Ensembl: ENSG00000166289.7HGNC: HGNC:20764UniProt: B4DWN9
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endosomeprotein bindingphosphatidylinositol-5-phosphate bindingphosphatidylinositol-3-phosphate bindingcerebral atherosclerosiscancerosteosarcomadiabetes mellitus
✦AI Summary

PLEKHF1 (pleckstrin homology and FYVE domain containing 1) is a phosphatidylinositol-binding protein involved in vesicular trafficking and cell death pathways. It localizes to lysosomes and endosomes, where it regulates autophagy and endosome-to-lysosome transport. PLEKHF1 can trigger caspase-independent apoptosis by initiating lysosomal membrane permeabilization and promoting mitochondrial dysfunction through altered membrane permeability 1. The protein enhances PI3K/Akt signaling downstream of IL-4/IL-13 stimulation to promote alternatively activated macrophage (M2) polarization, contributing to pulmonary fibrosis pathogenesis 2. Clinically, PLEKHF1 dysregulation appears relevant to multiple diseases. In osteosarcoma, PLEKHF1 downregulation correlates with metastatic potential, and overexpression suppresses tumor growth and metastasis through mitochondrial dysfunction induction 1. PLEKHF1 was identified as a prognostic biomarker in osteosarcoma survival prediction 3. In dilated cardiomyopathy, PLEKHF1 emerged as one of eight autophagy-related diagnostic biomarkers 4. Additionally, reduced PLEKHF1 expression was identified as a potential diagnostic biomarker in ankylosing spondylitis, with upregulation observed following TNF-α blocker therapy 5. In breast cancer, PLEKHF1 amplification at the 19q12 locus contributes to cancer cell survival 6. PLEKHF1 siRNA-loaded liposomal therapy shows promise for pulmonary fibrosis treatment 2.

Sources cited
1
PLEKHF1 enhanced PI3K/Akt signaling to promote macrophage M2 polarization and pulmonary fibrosis; PLEKHF1 siRNA-loaded liposomes suppressed lung fibrosis in mice
PMID: 37340175
2
PLEKHF1 overexpression induced mitochondrial dysfunction with increased mtROS and altered membrane potential; downregulated in metastatic osteosarcoma; promoted apoptosis and inhibited metastasis
PMID: 40910899
3
PLEKHF1 identified as one of six optimal apoptosis-related genes in osteosarcoma prognostic signature
PMID: 35504036
4
PLEKHF1 identified as one of eight autophagy-related diagnostic biomarkers for dilated cardiomyopathy
PMID: 36056063
5
PLEKHF1 identified as key NK cell-associated gene and diagnostic biomarker for ankylosing spondylitis; expression reduced in AS patients and upregulated after TNF-α blocker therapy
PMID: 39853176
6
PLEKHF1 at 19q12 amplicon significantly overexpressed and required for survival of breast cancer cells with amplification
PMID: 22433433
7
PLEKHF1 listed as glucocorticoid-regulated gene involved in autophagy in brain
PMID: 29180230
Disease Associationsⓘ20
cerebral atherosclerosisOpen Targets
0.18Weak
cancerOpen Targets
0.04Suggestive
osteosarcomaOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
pulmonary fibrosisOpen Targets
0.02Suggestive
endometriosisOpen Targets
0.02Suggestive
Ovarian EndometriosisOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
infectionOpen Targets
0.01Suggestive
coronary artery diseaseOpen Targets
0.01Suggestive
nail-patella syndromeOpen Targets
0.01Suggestive
anisakiasisOpen Targets
0.01Suggestive
familial hypercholesterolemiaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
brucellosisOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
breast carcinomaOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
Townes-Brocks syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GGCTProtein interaction84%TRIM11Protein interaction77%PLEKHF2Shared pathway40%FHIP1BShared pathway22%WDR72Shared pathway20%PACS1Shared pathway20%
Tissue Expression6 tissues
Liver
100%
Lung
85%
Heart
63%
Ovary
48%
Brain
22%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
PLEKHF1GGCTTRIM11PLEKHF2FHIP1BWDR72PACS1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96S99
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.90LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF1.22 [0.56–1.90]
RankingsWhere PLEKHF1 stands among ~20K protein-coding genes
  • #15,958of 20,598
    Most Researched14
  • #17,261of 17,882
    Most Constrained (LOEUF)1.90
Genes detectedPLEKHF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
Local administration of liposomal-based Plekhf1 gene therapy attenuates pulmonary fibrosis by modulating macrophage polarization.
PMID: 37340175
Sci China Life Sci · 2023
0.90
3
Glucocorticoids, genes and brain function.
PMID: 29180230
Prog Neuropsychopharmacol Biol Psychiatry · 2018
0.80
4
Functional characterization of the 19q12 amplicon in grade III breast cancers.
PMID: 22433433
Breast Cancer Res · 2012
0.70
5
PLEKHF1 Induces Mitochondrial Dysfunction to Inhibit Osteosarcoma Growth and Metastasis.
PMID: 40910899
IUBMB Life · 2025
0.60