RUVBL1
RuvB-like AAA ATPase 1, a component of chromatin remodeling complexes
Gene Information Card
| Symbol | RUVBL1 |
|---|---|
| Full Name | RuvB-like AAA ATPase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 8607 ncbi.nlm.nih.gov/gene/8607 |
| Ensembl ID | ENSG00000175792 |
| UniProt ID | Q9Y265 |
| OMIM ID | 603449 |
| HGNC ID | 10474 |
| Aliases | TIP49, TIP49A, ECP-54, INO80J, NMP238, RVB1, TIH1, pontin |
Description
RUVBL1 encodes a member of the RuvB-like family of AAA+ ATPases. The protein is a component of several chromatin remodeling complexes, including the INO80, SWR1, and TIP60 complexes, and plays a role in transcriptional regulation, DNA repair, and cell cycle control. It interacts with various transcription factors and is involved in cellular processes such as apoptosis and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression and altered ATPase activity contribute to tumorigenesis via dysregulated chromatin remodeling and transcription | COSMIC, NCBI |
| Primary ciliary dyskinesia (rare) | Mutations in RUVBL1 may impair ciliary function through defective assembly of dynein arms | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.3 | High |
| Bone marrow | 22.1 | High |
| Lymph node | 19.5 | High |
| Brain | 12.4 | Medium |
| Liver | 8.7 | Medium |
| Heart | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.0 | High expression |
| HeLa | 22.3 | High expression |
| K562 | 20.1 | High expression |
| HepG2 | 15.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1124A>G (p.Asn375Ser) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1573C>T (p.Arg525Trp) | Missense | 0.005% (gnomAD) | Reported in ClinVar as uncertain significance for primary ciliary dyskinesia |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted to impair ATPase activity or complex assembly
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • chromatin binding | • DNA helicase activity |
| • protein folding chaperone | • nucleosome remodeling |
| • regulation of transcription by RNA polymerase II | • cell cycle |
Pathways
• Chromatin remodeling (INO80 complex)
• Chromatin remodeling (SWR1 complex)
• Chromatin remodeling (TIP60 complex)
• DNA repair (homologous recombination)
Protein Summary
RUVBL1 (also known as pontin, TIP49) is a 456-amino acid AAA+ ATPase that forms a heterohexameric complex with RUVBL2. It functions as a core component of multiple chromatin remodeling complexes, facilitating ATP-dependent nucleosome sliding and histone exchange. The protein also exhibits DNA helicase activity and is implicated in cellular processes including transcription, DNA damage repair, and mitotic spindle assembly. Its overexpression is observed in various cancers and correlates with poor prognosis.
Related Services
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