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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PAAF1
proteasomal ATPase associated factor 1
Chromosome 11 · 11q13.4
NCBI Gene: 80227Ensembl: ENSG00000175575.13HGNC: HGNC:25687UniProt: F5H0C4
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingproteasome complexcytosolneurodegenerative diseasepyogenic granulomaurethral syndromebreast benign neoplasm
✦AI Summary

PAAF1 (proteasomal ATPase associated factor 1) serves as a multifunctional regulator of proteasome assembly and activity. As a proteasome assembly chaperone, PAAF1 specifically binds to proteasomal ATPases within the 19S regulatory particle and guides proper assembly of the 26S proteasome 1. Paradoxically, PAAF1 also functions as a negative regulator by inhibiting 26S proteasome assembly and preventing stable association of the 19S regulatory complex with the 20S core, thereby reducing overall proteolytic activity 2. PAAF1 plays a critical role in protein quality control by serving as an adaptor that helps the HERC1 ubiquitin ligase identify and eliminate unassembled proteasome intermediates 3. In disease contexts, PAAF1 contributes to HIV-1 transcriptional regulation by promoting proteasome dissociation into 19S and 20S particles, facilitating recruitment of the 19S complex to the viral promoter 4. Additionally, PAAF1 protects the transcriptional elongation factor SUPT6H (Spt6) from proteasomal degradation 5. Dysregulation of PAAF1 has been implicated in Parkinson's disease, where it mediates α-synuclein-induced proteasome dysfunction 6, and homozygous PAAF1 duplications have been associated with rare genetic disease traits 7.

Sources cited
1
PAAF1 serves as a proteasome assembly chaperone that binds specific Rpt subunits and guides 26S proteasome assembly
PMID: 19446323
2
PAAF1 negatively regulates proteasome activity by inhibiting assembly of the 26S proteasome
PMID: 15831487
3
PAAF1 serves as an adaptor for HERC1 ubiquitin ligase in protein quality control
PMID: 34446601
4
PAAF1 promotes proteasome dissociation and facilitates HIV-1 transcriptional regulation
PMID: 17289585
5
PAAF1 protects SUPT6H/Spt6 from proteasomal degradation
PMID: 22316138
6
PAAF1 mediates α-synuclein-induced proteasome dysfunction in Parkinson's disease
PMID: 38415292
7
Homozygous PAAF1 duplications are associated with rare genetic disease traits
PMID: 38153174
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.34Weak
pyogenic granulomaOpen Targets
0.27Weak
urethral syndromeOpen Targets
0.26Weak
breast benign neoplasmOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
albinismOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
acute pancreatitisOpen Targets
0.00Suggestive
Pallister-Hall syndromeOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
hepatitis B virus induced hepatocellular carcinomaOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Uveal MelanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PSMD1Protein interaction100%PSMC1Protein interaction100%PSMC6Protein interaction100%PSMD8Protein interaction100%UCHL5Protein interaction100%PSMD6Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
63%
Liver
54%
Heart
53%
Bone Marrow
43%
Lung
29%
Gene Interaction Network
Click a node to explore
PAAF1PSMD1PSMC1PSMC6PSMD8UCHL5PSMD6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BRP4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.64–1.15]
RankingsWhere PAAF1 stands among ~20K protein-coding genes
  • #8,854of 20,598
    Most Researched50
  • #11,900of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedPAAF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of a quality-control factor that monitors failures during proteasome assembly.
PMID: 34446601
Science · 2021
1.00
2
Proteasomal ATPase-associated factor 1 negatively regulates proteasome activity by interacting with proteasomal ATPases.
PMID: 15831487
Mol Cell Biol · 2005
0.90
3
Conformational Landscape of the p28-Bound Human Proteasome Regulatory Particle.
PMID: 28689658
Mol Cell · 2017
0.80
4
Inhibition of 26S proteasome activity by α-synuclein is mediated by the proteasomal chaperone Rpn14/PAAF1.
PMID: 38415292
Aging Cell · 2024
0.70
5
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
PMID: 38153174
Nucleic Acids Res · 2024
0.60