Human Gene RUVBL1 (ENST00000464873.5) from GENCODE V44
  Description: Homo sapiens RuvB like AAA ATPase 1 (RUVBL1), transcript variant 3, mRNA. (from RefSeq NM_001319086)
RefSeq Summary (NM_001319086): 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].
Gencode Transcript: ENST00000464873.5
Gencode Gene: ENSG00000175792.12
Transcript (Including UTRs)
   Position: hg38 chr3:128,064,785-128,153,914 Size: 89,130 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr3:128,065,212-128,119,375 Size: 54,164 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:128,064,785-128,153,914)mRNA (may differ from genome)Protein (315 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E7ETR0_HUMAN
DESCRIPTION: SubName: Full=RuvB-like 1;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RUVBL1
Diseases sorted by gene-association score: intermittent explosive disorder (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.26 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 441.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -342.70751-0.456 Picture PostScript Text
3' UTR -122.70427-0.287 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR016027 - NA-bd_OB-fold-like
IPR010339 - TIP49_C

Pfam Domains:
PF06068 - TIP49 C-terminus

ModBase Predicted Comparative 3D Structure on E7ETR0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003678 DNA helicase activity
GO:0004386 helicase activity
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0043141 ATP-dependent 5'-3' DNA helicase activity

Biological Process:
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006974 cellular response to DNA damage stimulus
GO:0032508 DNA duplex unwinding

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0031011 Ino80 complex
GO:0035267 NuA4 histone acetyltransferase complex
GO:0097255 R2TP complex


-  Descriptions from all associated GenBank mRNAs
  LF207273 - JP 2014500723-A/14776: Polycomb-Associated Non-Coding RNAs.
MA442850 - JP 2018138019-A/14776: Polycomb-Associated Non-Coding RNAs.
AK092163 - Homo sapiens cDNA FLJ34844 fis, clone NT2NE2011154, highly similar to RuvB-like 1 (EC 3.6.1.-).
LF363967 - JP 2014500723-A/171470: Polycomb-Associated Non-Coding RNAs.
MA599544 - JP 2018138019-A/171470: Polycomb-Associated Non-Coding RNAs.
KJ892572 - Synthetic construct Homo sapiens clone ccsbBroadEn_01966 RUVBL1 gene, encodes complete protein.
BC012886 - Homo sapiens RuvB-like 1 (E. coli), mRNA (cDNA clone MGC:21500 IMAGE:3876400), complete cds.
AF070735 - Homo sapiens RuvB-like protein RUVBL1 mRNA, complete cds.
Y18418 - Homo sapiens mRNA for erythrocyte cytosolic protein of 54 kDa.
AF099084 - Homo sapiens Pontin52 mRNA, complete cds.
BC002993 - Homo sapiens RuvB-like 1 (E. coli), mRNA (cDNA clone MGC:3762 IMAGE:2823568), complete cds.
GQ891468 - Homo sapiens clone HEL-S-189 epididymis secretory sperm binding protein mRNA, complete cds.
AK222575 - Homo sapiens mRNA for TATA binding protein interacting protein 49 kDa variant, clone: CAS02041.
AB012122 - Homo sapiens mRNA for TIP49, complete cds.
AJ010058 - Homo sapiens mRNA for NMP238 protein.
AK222563 - Homo sapiens mRNA for TATA binding protein interacting protein 49 kDa variant, clone: adSU01815.
DQ469310 - Homo sapiens RUVBL1-FK mRNA, complete cds, alternatively spliced.
AK312290 - Homo sapiens cDNA, FLJ92593, Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.
AB451224 - Homo sapiens RUVBL1 mRNA for RuvB-like 1, complete cds, clone: FLJ08009AAAN.
BT007057 - Homo sapiens RuvB-like 1 (E. coli) mRNA, complete cds.
DQ891448 - Synthetic construct clone IMAGE:100004078; FLH177041.01X; RZPDo839C05124D RuvB-like 1 (E. coli) (RUVBL1) gene, encodes complete protein.
DQ894627 - Synthetic construct Homo sapiens clone IMAGE:100009087; FLH177038.01L; RZPDo839C05123D RuvB-like 1 (E. coli) (RUVBL1) gene, encodes complete protein.
AB451347 - Homo sapiens RUVBL1 mRNA for RuvB-like 1, partial cds, clone: FLJ08009AAAF.
AB590226 - Synthetic construct DNA, clone: pFN21AE1123, Homo sapiens RUVBL1 gene for RuvB-like 1, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: E7ETR0, E7ETR0_HUMAN, ENST00000464873.1, ENST00000464873.2, ENST00000464873.3, ENST00000464873.4, NM_001319086, uc003ekf.1, uc003ekf.2, uc003ekf.3
UCSC ID: ENST00000464873.5
RefSeq Accession: NM_001319086
Protein: E7ETR0 CCDS: CCDS82833.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.