RUVBL1 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | RUVBL1 |
| Official Name | RuvB like AAA ATPase 1 [Source:HGNC Symbol;Acc:HGNC:10474] |
| Ensembl ID | ENSG00000175792 |
| Bio databases IDs | |
| Aliases | RuvB like AAA ATPase 1, pontin, INO80 complex subunit H |
| Synonyms | 2510009G06Rik, ECP-54, INO80H, NMP 238, PONTIN, Pontin52, RUVB1, RuvB-like AAA ATPase 1, RVB1, TAP54 alpha, TAP54 α, TAP54 β, TATA Binding Protein Interacting Protein 49 kDa Variant, TIH1, TIP49, TIP49A |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RUVBL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TIP49 AAA-lid domain
- transcription regulator
- transcription co-activator
- walker type B motif
- ADP binding
- ATP binding
- transcription factor binding
- protein binding
- ATPase
- TATA-binding protein binding
- DNA helicase
- TIP49 P-loop domain
- ATPase binding
- binding protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- atopic dermatitis
- plexiform neurofibroma
- common variable immunodeficiency type 15
- survival
- colon cancer
- prostate cancer
- cardiovascular disorder
- pelvic organ prolapse
role in cell
- expression in
- cell viability
- growth
- apoptosis
- phosphorylation in
- proliferation
- survival
- processing in
- activation in
- synthesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- membrane fraction
- organelle
- basal bodies
- cytosol
- nucleosomes
- nucleoplasm
- nucleoli
- nuclear speckles
- nuclear matrix
- plasma
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RUVBL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of DNA repair
- DNA repair
- regulation of chromosome organization
- regulation of DNA strand elongation
- regulation of DNA repair
- spermatogenesis
- regulation of embryonic development
- positive regulation of canonical Wnt receptor signaling pathway
- DNA recombination
- telomere maintenance
- regulation of transcription, DNA-dependent
- regulation of apoptotic process
- regulation of DNA replication
- regulation of transcription from RNA polymerase II promoter
- cell division
- chromatin remodeling
- box C/D snoRNP assembly
- regulation of double-strand break repair
- positive regulation of transcription, DNA-dependent
- DNA duplex unwinding
- regulation of cell cycle
- protein stabilization
Cellular Component
Where in the cell the gene product is active
- NuA4 histone acetyltransferase complex
- Swr1 complex
- nucleosome
- nucleoplasm
- nucleus
- centrosome
- extracellular vesicular exosome
- R2TP complex
- membrane
- nuclear matrix
- cytosol
- Ino80 complex
- MLL1 complex
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA helicase activity
- protein binding
- transcription coactivator activity
- cadherin binding
- TFIID-class transcription factor binding
- TBP-class protein binding
- ADP binding
- ATPase binding