RUVBL1 RuvB like AAA ATPase 1
Gene ID: 8607, updated on 7-Apr-2024Gene type: protein coding
Also known as: RVB1; TIH1; ECP54; TIP49; ECP-54; INO80H; NMP238; PONTIN; TIP49A; NMP 238; Pontin52
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- Go to complete Gene record for RUVBL1
- Go to Variation Viewer for RUVBL1 variants
Summary
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]
Genomic context
- Location:
- 3q21.3
- Sequence:
- Chromosome: 3; NC_000003.12 (128064785..128153914, complement)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for RUVBL1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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