Aliases for RUVBL1 Gene
- RuvB Like AAA ATPase 1 2 3 5
- INO80 Complex Subunit H 2 3 4
- 49 KDa TATA Box-Binding Protein-Interacting Protein 3 4
- 54 KDa Erythrocyte Cytosolic Protein 3 4
- TIP60-Associated Protein 54-Alpha 3 4
- 49 KDa TBP-Interacting Protein 3 4
- RuvB (E Coli Homolog)-Like 1 2 3
- Nuclear Matrix Protein 238 3 4
- RuvB-Like AAA ATPase 2 3
- TAP54-Alpha 3 4
- Pontin 52 3 4
- NMP 238 3 4
- Pontin 2 3
- ECP-54 3 4
- INO80H 3 4
External Ids for RUVBL1 Gene
Previous GeneCards Identifiers for RUVBL1 Gene
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]
GeneCards Summary for RUVBL1 Gene
RUVBL1 (RuvB Like AAA ATPase 1) is a Protein Coding gene. Diseases associated with RUVBL1 include Intermittent Explosive Disorder. Among its related pathways are Chromatin organization and Telomere C-strand (Lagging Strand) Synthesis. GO annotations related to this gene include ATPase activity and DNA helicase activity.
UniProtKB/Swiss-Prot for RUVBL1 Gene
Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (3 to 5) activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity.
Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.
Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. Essential for cell proliferation.
May be able to bind plasminogen at cell surface and enhance plasminogen activation.