RUVBL1

Chr 3

RuvB like AAA ATPase 1

Also known as: ECP-54, ECP54, INO80H, NMP 238, NMP238, PONTIN, Pontin52, RVB1

NCBI Gene: 8607UniProt: Q9Y265

This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

0
Active trials
0
ClinVar variants
0
Pathogenic / LP
3.4
Missense Z· constrained
0.19
LOEUF· LoF intolerant
15
Pubs (2 yr)
Clinical Summary— RUVBL1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.19LOEUF
pLI 0.999
Z-score 4.40
OE 0.04 (0.01–0.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
3.39Z-score
OE missense 0.41 (0.35–0.48)
107 obs / 260.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.04 (0.01–0.19)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.41 (0.35–0.48)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.09
0≤1.21.6
LoF obs/exp: 1 / 24.5Missense obs/exp: 107 / 260.9Syn Z: -0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RUVBL1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Systemic Sclerosis-Specific Antibodies: Novel and Classical Biomarkers.
Cavazzana I et al.·Clin Rev Allergy Immunol
2023
Targeting MYC effector functions in pancreatic cancer by inhibiting the ATPase RUVBL1/2.
Vogt M et al.·Gut
2024
Identification of biomarkers of shrinkage modes after neoadjuvant therapy in HER-2 positive breast cancer.
Bi Z et al.·Int J Surg
2025
Mechanistic insights into CLNS1A-mediated chemoresistance and tumor progression in non-small cell lung cancer.
Wei TW et al.·Cancer Lett
2025
The clinico-serological spectrum of overlap myositis.
Fredi M et al.·Curr Opin Rheumatol
2018Review
Dual inhibition of ATR and DNA-PKcs radiosensitizes ATM-mutant prostate cancer.
Hofstad M et al.·Oncogene
2025
Genome-wide CRISPR activation screen identifies ARL11 as a sensitivity determinant of PARP inhibitor therapy.
Zhang T et al.·Cancer Gene Ther
2025
RUVBL1-mediated mTORC1 activation drives tumour progression and immune evasion for oral squamous cell carcinoma.
Wang X et al.·Life Sci
2026
The Expression of the RUVBL1 Component of the R2TP Complex Correlates with Poor Prognosis in DLBCL.
Lone M et al.·Pathobiology
2022
IRX2 regulates endometrial carcinoma oncogenesis by transcriptional repressing RUVBL1.
Xu Q et al.·Exp Cell Res
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Involvement of RUVBL1 in WNT/beta-Catenin Signaling in Oral Squamous Cell Carcinoma
Zeng Y et al.·Dis Markers
2022
Ruvbl1 silencing affects reproduction of the corn planthopper, Peregrinus maidis
Xavier CAD et al.·PLoS One
2024
Discovery of small-molecule inhibitors of RUVBL1/2 ATPase.
Zhang G et al.·Bioorg Med Chem
2022
RUVBL1 in Clear-Cell Renal Cell Carcinoma: Unraveling Prognostic Significance and Correlation with HIF1A
Durślewicz J et al.·Cancers (Basel)
2024
In silico protein structural analysis of PRMT5 and RUVBL1 mutations arising in human cancers
Al-Marrawi M et al.·Cancer Genet
2025
Aedes aegypti encodes an ATPase-active RUVBL1/2 complex.
Quel NG et al.·Int J Biol Macromol
2025
Ruvbl1 is Essential for Ciliary Beating during Xenopus laevis Embryogenesis
Kim CY et al.·Dev Reprod
2023
Anti-RuvBL1/2 Autoantibodies Detection in a Patient with Overlap Systemic Sclerosis and Polymyositis
Di Pietro L et al.·Antibodies (Basel)
2023
Top 8 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients