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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RUVBL1
RuvB like AAA ATPase 1
Chromosome 3 · 3q21.3
NCBI Gene: 8607Ensembl: ENSG00000175792.12HGNC: HGNC:10474UniProt: A0A384MTR5
458PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ciliary basal bodyDNA helicase activitytranscription coactivator activityprotein bindingimmunodeficiency, common variable, 15neurodevelopmental disorder with progressive spasticity and brain abnormalitiesprostate carcinomapolycystic ovary syndrome
✦AI Summary

RUVBL1 is a highly conserved AAA+ ATPase that functions as a versatile scaffold in multiple cellular processes through its ability to form hetero-hexameric complexes with RUVBL2 1. The protein serves as a core component of several chr3 remodeling complexes, including the NuA4 histone acetyltransferase complex and TIP60 complex, where the RUVBL1-RUVBL2 hexamer provides structural stability for complex assembly 2. RUVBL1 plays essential roles in oncogenic processes by modulating MYC signaling and chr3 accessibility, controlling MYC chr3 binding and driving MYC-dependent gene expression programs 34. The protein regulates protein translation through interactions with translation machinery components like EEF1A1 and YTHDF1, forming positive feedforward circuits that accelerate oncogenic translation in cancer cells 35. RUVBL1 also contributes to metabolic reprogramming by regulating arachidonic acid metabolism through chr3 remodeling mechanisms 6. Clinically, RUVBL1 overexpression correlates with poor prognosis in multiple cancer types including colorectal and pancreatic cancers 54. Targeting RUVBL1 with pharmacological inhibitors or genetic depletion preferentially impairs cancer cell growth while sparing normal cells, making it an attractive therapeutic target for MYC-driven cancers 45.

Sources cited
1
RUVBL1 and RUVBL2 form hetero-hexameric complexes that act as versatile scaffolds in multiple cellular processes
PMID: 33129013
2
RUVBL1-RUVBL2 hexamer serves as rigid core for TIP60 complex assembly
PMID: 39154037
3
RUVBL1 controls MYC chromatin binding and MYC-driven EEF1A1 expression
PMID: 37075745
4
RUVBL1 is essential for pancreatic cancer progression and MYC function
PMID: 38821858
5
RUVBL1 interacts with YTHDF1 to promote oncogenic translation in colorectal cancer
PMID: 38900944
6
RUVBL1 regulates arachidonic acid metabolism through chromatin remodeling mechanisms
PMID: 39665272
Disease Associationsⓘ20
immunodeficiency, common variable, 15Open Targets
0.38Weak
neurodevelopmental disorder with progressive spasticity and brain abnormalitiesOpen Targets
0.33Weak
prostate carcinomaOpen Targets
0.33Weak
polycystic ovary syndromeOpen Targets
0.30Weak
neuromuscular diseaseOpen Targets
0.30Weak
asthmaOpen Targets
0.29Weak
autosomal dominant polycystic liver diseaseOpen Targets
0.29Weak
Isolated polycystic liver diseaseOpen Targets
0.29Weak
chronic obstructive pulmonary diseaseOpen Targets
0.28Weak
pelvic organ prolapseOpen Targets
0.25Weak
prolapse of female genital organOpen Targets
0.21Weak
bladder calculusOpen Targets
0.21Weak
childhood onset asthmaOpen Targets
0.20Weak
allergic asthmaOpen Targets
0.20Weak
cancerOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
hyperuricemic nephropathy, familial juvenile type 4Open Targets
0.17Weak
respiratory system diseaseOpen Targets
0.16Weak
cataractOpen Targets
0.15Weak
Age-related cataractOpen Targets
0.15Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNHIT2Protein interaction100%H2AZ1Protein interaction100%PFDN2Protein interaction100%SPAG1Protein interaction100%TRRAPProtein interaction100%UXTProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
78%
Bone Marrow
69%
Liver
57%
Lung
55%
Ovary
52%
Gene Interaction Network
Click a node to explore
RUVBL1ZNHIT2H2AZ1PFDN2SPAG1TRRAPUXT
PROTEIN STRUCTURE
Preparing viewer…
PDB2C9O · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.17Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.07 [0.03–0.17]
RankingsWhere RUVBL1 stands among ~20K protein-coding genes
  • #597of 20,598
    Most Researched458 · top 5%
  • #290of 17,882
    Most Constrained (LOEUF)0.17 · top 5%
Genes detectedRUVBL1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
RUVBL1-RUVBL2 AAA-ATPase: a versatile scaffold for multiple complexes and functions.
PMID: 33129013
Curr Opin Struct Biol · 2021
1.00
2
Systemic Sclerosis-Specific Antibodies: Novel and Classical Biomarkers.
PMID: 35716254
Clin Rev Allergy Immunol · 2023
0.90
3
YAP and β-catenin cooperate to drive
PMID: 36959122
Gut Microbes · 2023
0.80
4
Deciphering cellular and molecular determinants of human DPCD protein in complex with RUVBL1/RUVBL2 AAA-ATPases.
PMID: 35901867
J Mol Biol · 2022
0.72
5
RUVBL1/2 Blockade Targets YTHDF1 Activity to Suppress m6A-Dependent Oncogenic Translation and Colorectal Tumorigenesis.
PMID: 38900944
Cancer Res · 2024
0.70