Human Gene RUVBL1 (ENST00000322623.10_7) from GENCODE V47lift37
  Description: RuvB like AAA ATPase 1, transcript variant 1 (from RefSeq NM_003707.3)
Gencode Transcript: ENST00000322623.10_7
Gencode Gene: ENSG00000175792.12_13
Transcript (Including UTRs)
   Position: hg19 chr3:127,799,653-127,842,655 Size: 43,003 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr3:127,800,093-127,842,567 Size: 42,475 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:127,799,653-127,842,655)mRNA (may differ from genome)Protein (456 aa)
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-  Comments and Description Text from UniProtKB
  ID: RUVB1_HUMAN
DESCRIPTION: RecName: Full=RuvB-like 1; EC=3.6.4.12; AltName: Full=49 kDa TATA box-binding protein-interacting protein; Short=49 kDa TBP-interacting protein; AltName: Full=54 kDa erythrocyte cytosolic protein; Short=ECP-54; AltName: Full=INO80 complex subunit H; AltName: Full=Nuclear matrix protein 238; Short=NMP 238; AltName: Full=Pontin 52; AltName: Full=TIP49a; AltName: Full=TIP60-associated protein 54-alpha; Short=TAP54-alpha;
FUNCTION: 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.
FUNCTION: 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.
FUNCTION: Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
FUNCTION: Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. Essential for cell proliferation.
FUNCTION: May be able to bind plasminogen at cell surface and enhance plasminogen activation.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Forms homohexameric rings. Can form a dodecamer with RUVBL2 made of two stacked hexameric rings; however, even though RUVBL1 and RUVBL2 are present in equimolar ratio, the oligomeric status of each hexamer is not known. Oligomerization may regulate binding to nucleic acids and conversely, binding to nucleic acids may affect the dodecameric assembly. Interacts with the transcriptional activation domain of MYC. Component of the RNA polymerase II holoenzyme complex. May also act to bridge the LEF1/TCF1-CTNNB1 complex and TBP. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. RUVBL1 interacts with EP400. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Component of the BAF53 complex, at least composed of ACTL6A/BAF53A, RUVBL1/TIP49, SMARCA2/BRM, and TRRAP/PAF400. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Associates with alpha and gamma tubulins, particularly during metaphase and early anaphase. Interacts with NPAT. Component of the chromatin-remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Interacts with IGHMBP2. Interacts with OFD1.
INTERACTION: O60832:DKC1; NbExp=5; IntAct=EBI-353675, EBI-713091; Q9Y230:RUVBL2; NbExp=21; IntAct=EBI-353675, EBI-352939; O14746:TERT; NbExp=11; IntAct=EBI-353675, EBI-1772203; Q15906:VPS72; NbExp=6; IntAct=EBI-353675, EBI-399189; P25490:YY1; NbExp=4; IntAct=EBI-353675, EBI-765538;
SUBCELLULAR LOCATION: Nucleus matrix. Nucleus, nucleoplasm. Cytoplasm. Membrane. Cytoplasm, cytoskeleton, centrosome. Note=Mainly localized in the nucleus, associated with nuclear matrix or in the nuclear cytosol, although it is also present in the cytoplasm and associated with the cell membranes. In prophase and prometaphase it is located at the centrosome and the branching microtubule spindles. After mitotic nuclear membrane disintigration it accumulates at the centrosome and sites of tubulin polymerization. As cells pass through metaphase and into telophase it is located close to the centrosome at the early phase of tubulin polymerization. In anaphase it accumulates at the zone of tubule interdigitation. In telophase it is found at polar tubule overlap, and it reappears at the site of chromosomal decondensation in the daughter cells.
TISSUE SPECIFICITY: Ubiquitously expressed with high expression in heart, skeletal muscle and testis.
DOMAIN: Binding to MYC is dependent on a Myc domain essential for oncogenic activity.
MISCELLANEOUS: High level of autoantibodies against RUVBL1 are detected in sera of patients with autoimmune diseases such as polymyositis/dermatomyosistis and autoimmune hepatitis.
SIMILARITY: Belongs to the RuvB family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.3088-0.412 Picture PostScript Text
3' UTR -116.50440-0.265 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:
PF00004 - ATPase family associated with various cellular activities (AAA)
PF05496 - Holliday junction DNA helicase RuvB P-loop domain
PF06068 - TIP49 P-loop domain
PF17856 - TIP49 AAA-lid domain

SCOP Domains:
47113 - Histone-fold
50249 - Nucleic acid-binding proteins
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2C9O - X-ray MuPIT 2XSZ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y265
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-  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
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001094 TFIID-class transcription factor binding
GO:0003678 DNA helicase activity
GO:0003713 transcription coactivator activity
GO:0004003 ATP-dependent DNA helicase activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0016887 ATPase activity
GO:0017025 TBP-class protein binding
GO:0043141 ATP-dependent 5'-3' DNA helicase activity
GO:0043531 ADP binding
GO:0045296 cadherin binding
GO:0051117 ATPase binding

Biological Process:
GO:0000492 box C/D snoRNP assembly
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006325 chromatin organization
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006974 cellular response to DNA damage stimulus
GO:0007049 cell cycle
GO:0007283 spermatogenesis
GO:0016579 protein deubiquitination
GO:0032508 DNA duplex unwinding
GO:0034080 CENP-A containing nucleosome assembly
GO:0040008 regulation of growth
GO:0043967 histone H4 acetylation
GO:0043968 histone H2A acetylation
GO:0051301 cell division
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1904837 beta-catenin-TCF complex assembly
GO:1904874 positive regulation of telomerase RNA localization to Cajal body

Cellular Component:
GO:0000812 Swr1 complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0016363 nuclear matrix
GO:0031011 Ino80 complex
GO:0035267 NuA4 histone acetyltransferase complex
GO:0070062 extracellular exosome
GO:0071339 MLL1 complex
GO:0097255 R2TP complex
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  AK092163 - Homo sapiens cDNA FLJ34844 fis, clone NT2NE2011154, highly similar to RuvB-like 1 (EC 3.6.1.-).
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.
BX647488 - Homo sapiens mRNA; cDNA DKFZp686C14128 (from clone DKFZp686C14128).
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.
JD256309 - Sequence 237333 from Patent EP1572962.
JD067234 - Sequence 48258 from Patent EP1572962.
JD496858 - Sequence 477882 from Patent EP1572962.
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.
JD493847 - Sequence 474871 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y265 (Reactome details) participates in the following event(s):

R-HSA-3451153 Beta-catenin recruits TRRAP/KAT5 HAT components
R-HSA-606326 HJURP:CENPA complex localizes to the centromere
R-HSA-5689544 UCHL5 binds INO80 complex
R-HSA-3321975 NuA4 complex acetylates histone H2A, HIST1H4
R-NUL-4551334 NuA4 complex actetylates H2A and H4
R-NUL-3451144 KAT5 HAT complex acetylates TCF4 (ITF-2) gene at histone H4
R-HSA-3451147 KAT5 HAT complex acetylates TCF4 gene at histone H4
R-HSA-5697009 USP37:RUVLB1:PSMC5 deubiquitinates CCNA1,CCNA2
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-5689603 UCH proteinases
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-774815 Nucleosome assembly
R-HSA-3214847 HATs acetylate histones
R-HSA-5688426 Deubiquitination
R-HSA-5689880 Ub-specific processing proteases
R-HSA-195721 Signaling by WNT
R-HSA-73886 Chromosome Maintenance
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-597592 Post-translational protein modification
R-HSA-162582 Signal Transduction
R-HSA-1640170 Cell Cycle
R-HSA-4839726 Chromatin organization
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2R5S0, ENST00000322623.1, ENST00000322623.2, ENST00000322623.3, ENST00000322623.4, ENST00000322623.5, ENST00000322623.6, ENST00000322623.7, ENST00000322623.8, ENST00000322623.9, INO80H, NMP238, NM_003707, P82276, Q1KMR0, Q53HK5, Q53HL7, Q53Y27, Q9BSX9, Q9Y265, RUVB1_HUMAN, RUVBL1 , TIP49, TIP49A, uc317rht.1, uc317rht.2
UCSC ID: ENST00000322623.10_7
RefSeq Accession: NM_003707.3
Protein: Q9Y265 (aka RUVB1_HUMAN or RUV1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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