RUVBL1
RuvB-like 1
Also known as: ECP54, INO80H, NMP238, Pontin52, RUVB1_HUMAN, RVB1, TIH1, TIP49, TIP49a
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y265
- Gene
- RUVBL1
- Ensembl
- ENSG00000175792
- Chromosome
- 3
- Canonical length
- 456 aa
- Protein class
- Enzymes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear speckles,Basal body,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
456 residues, UniProt reviewed canonical sequence.
>Q9Y265|RUVBL1
1 MKIEEVKSTT KTQRIASHSH VKGLGLDESG LAKQAASGLV GQENAREACG VIVELIKSKK
61 MAGRAVLLAG PPGTGKTALA LAIAQELGSK VPFCPMVGSE VYSTEIKKTE VLMENFRRAI
121 GLRIKETKEV YEGEVTELTP CETENPMGGY GKTISHVIIG LKTAKGTKQL KLDPSIFESL
181 QKERVEAGDV IYIEANSGAV KRQGRCDTYA TEFDLEAEEY VPLPKGDVHK KKEIIQDVTL
241 HDLDVANARP QGGQDILSMM GQLMKPKKTE ITDKLRGEIN KVVNKYIDQG IAELVPGVLF
301 VDEVHMLDIE CFTYLHRALE SSIAPIVIFA SNRGNCVIRG TEDITSPHGI PLDLLDRVMI
361 IRTMLYTPQE MKQIIKIRAQ TEGINISEEA LNHLGEIGTK TTLRYSVQLL TPANLLAKIN
421 GKDSIEKEHV EEISELFYDA KSSAKILADQ QDKYMKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RUVBL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 26 nTPM
Expression across tissuesHPA
Tissue
- testis: 26 nTPM
- esophagus: 23 nTPM
- fallopian tube: 23 nTPM
- heart muscle: 23 nTPM
- kidney: 21 nTPM
- endometrium: 20 nTPM
Single-cell type
- epicardial cells: 325 nCPM
- fallopian tube ciliated cells: 275 nCPM
- respiratory ciliated cells: 273 nCPM
- endometrial ciliated cells: 153 nCPM
- epididymal efferent duct ciliated cells: 153 nCPM
- early primary spermatocytes: 122 nCPM
Immune cell
- T-reg: 31 nTPM
- MAIT T-cell: 20 nTPM
- memory CD8 T-cell: 20 nTPM
- memory CD4 T-cell: 19 nTPM
- naive CD8 T-cell: 18 nTPM
- NK-cell: 16 nTPM
Brain region
- choroid plexus: 16 nTPM
- midbrain: 14 nTPM
- medulla oblongata: 11 nTPM
- pons: 9.7 nTPM
- white matter: 8.8 nTPM
- thalamus: 8.7 nTPM
ReferencesPubMed · IEDB
Publications for RUVBL1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
2 publications
- Autoantibodies to RuvBL1 and RuvBL2: a novel systemic sclerosis-related antibody associated with diffuse cutaneous and skeletal muscle involvement.
2014 · Arthritis Care Res (Hoboken) · RCR 3.3 · 85 citations - TIP49, homologous to the bacterial DNA helicase RuvB, acts as an autoantigen in human.
1998 · Biochem Biophys Res Commun · RCR 0.8 · 42 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.39
- DepMap mean gene effect
- -1.79
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- box C/D snoRNP assembly
- cell division
- chromatin remodeling
- DNA recombination
- DNA repair
- positive regulation of canonical Wnt signaling pathway
- positive regulation of DNA repair
- positive regulation of DNA-templated transcription
- positive regulation of double-strand break repair via homologous recombination
- positive regulation of telomere maintenance in response to DNA damage
- protein stabilization
- regulation of apoptotic process
- regulation of cell cycle
- regulation of chromosome organization
- regulation of DNA repair
- regulation of DNA replication
- regulation of DNA strand elongation
- regulation of DNA-templated transcription
- regulation of double-strand break repair
- regulation of embryonic development
- regulation of transcription by RNA polymerase II
- spermatogenesis
- telomerase RNA localization to Cajal body
- telomere maintenance
Molecular functions
- ADP binding
- ATP binding
- ATP hydrolysis activity
- ATPase binding
- cadherin binding
- DNA helicase activity
- TBP-class protein binding
- TFIID-class transcription factor complex binding
- transcription coactivator activity
Cellular components
- centrosome
- ciliary basal body
- cytosol
- dynein axonemal particle
- extracellular exosome
- Ino80 complex
- membrane
- MLL1 complex
- NuA4 histone acetyltransferase complex
- nuclear matrix
- nuclear speck
- nucleoplasm
- nucleosome
- nucleus
- protein folding chaperone complex
- R2TP complex
- ribonucleoprotein complex
- RPAP3/R2TP/prefoldin-like complex
- Swr1 complex
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RUVBL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RUVBL1 as an antibody target. Whether an autoantibody or antibody against RUVBL1 could matter depends on whether native RUVBL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RUVBL1 is annotated at the cell surface, where native RUVBL1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label RUVBL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...