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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSMF1
proteasome inhibitor subunit 1
Chromosome 20 · 20p13
NCBI Gene: 9491Ensembl: ENSG00000125818.18HGNC: HGNC:9571UniProt: A0A140VJT2
98PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein bindingprotein homodimerization activityprotein heterodimerization activitycomplex neurodevelopmental disorder with motor featuresAbruptio PlacentaeMethicillin-Resistant Staphylococcus Aureus Infectionresponse to antibiotic
✦AI Summary

PSMF1 (proteasome inhibitor subunit 1) is a conserved proteasome regulator that antagonistically controls 20S proteasomal activity 1. It directly interacts with VCP to regulate protein degradation pathways critical for cellular homeostasis 1. PSMF1 inhibits both the hydrolysis of protein substrates by the 20S proteasome and activation by regulatory proteins PA700 and PA28, functioning as a negative regulator of proteasomal protein catabolism 2. Clinically, PSMF1 has emerged as a significant neurodegeneration gene. Biallelic variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality with neurological manifestations 2. Pathogenic PSMF1 variants impair mitochondrial membrane potential, dynamics, and mitophagy, with Drosophila and mouse models showing age-dependent motor impairment and dopaminergic neurodegeneration 2. PSMF1 represents a newly identified autosomal recessive early-onset Parkinson's disease gene 3. In cancer biology, mutant TP53 transcriptionally activates PSMF1 to increase organoid resistance to endoplasmic reticulum stress, implicating it in hepatocellular carcinoma pathogenesis 4. Additionally, PSMF1 variants predict non-small cell lung cancer survival through MHC-I antigen presentation pathways 5, and the gene appears enriched among stemness-associated immunotherapy targets 6.

Sources cited
1
PSMF1 variants cause early-onset Parkinson's disease to perinatal lethality; impair mitochondrial function and proteasomal dynamics
PMID: 39148840
2
PSMF1 and VCP directly interact and antagonistically regulate proteasomal activity
PMID: 26086101
3
Mutant TP53 R249S transcriptionally activates PSMF1 to enhance ER stress resistance in hepatocellular carcinoma
PMID: 36221953
4
PSMF1 identified as novel gene contributing to autosomal recessive early-onset Parkinson's disease
PMID: 41253044
5
PSMF1 rs13040574 variant predicts non-small cell lung cancer survival through MHC-I pathway
PMID: 33651148
6
PSMF1 enriched among top-ranked stemness-associated genes as potential immunotherapy targets
PMID: 35488273
Disease Associationsⓘ20
complex neurodevelopmental disorder with motor featuresOpen Targets
0.40Weak
Abruptio PlacentaeOpen Targets
0.32Weak
Methicillin-Resistant Staphylococcus Aureus InfectionOpen Targets
0.31Weak
response to antibioticOpen Targets
0.27Weak
poisoningOpen Targets
0.27Weak
response to xenobiotic stimulusOpen Targets
0.27Weak
jaw diseaseOpen Targets
0.20Weak
neurodegenerative diseaseOpen Targets
0.19Weak
Parkinson diseaseOpen Targets
0.08Suggestive
ParkinsonismOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
bacteriemiaOpen Targets
0.01Suggestive
gastric adenocarcinomaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
squamous cell lung carcinomaOpen Targets
0.01Suggestive
malariaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PSMB8Protein interaction100%PSMD4Protein interaction100%UCHL5Protein interaction100%USP14Protein interaction100%PSMA8Protein interaction100%PSME4Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Liver
89%
Heart
78%
Lung
76%
Ovary
67%
Bone Marrow
64%
Gene Interaction Network
Click a node to explore
PSMF1PSMB8PSMD4UCHL5USP14PSMA8PSME4
PROTEIN STRUCTURE
Preparing viewer…
PDB4OUH · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.38LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.76–1.38]
RankingsWhere PSMF1 stands among ~20K protein-coding genes
  • #4,903of 20,598
    Most Researched98 · top quartile
  • #14,384of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedPSMF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated analysis of single-cell and bulk RNA sequencing data reveals a pan-cancer stemness signature predicting immunotherapy response.
PMID: 35488273
Genome Med · 2022
1.00
2
TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk.
PMID: 36221953
Hepatology · 2023
0.90
3
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
PMID: 39148840
medRxiv · 2025
0.80
4
The genetics of autosomal recessive early-onset Parkinson's disease.
PMID: 41253044
Curr Opin Neurobiol · 2025
0.70
5
VCP and PSMF1: Antagonistic regulators of proteasome activity.
PMID: 26086101
Biochem Biophys Res Commun · 2015
0.60