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RUVBL1 Gene

protein-coding   GIFtS: 69
GCID: GC03M127783

RuvB-Like AAA ATPase 1

(Previous names: RuvB (E coli homolog)-like 1, RuvB-like 1 (E. coli), RuvB-like...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RuvB-Like AAA ATPase 11 2     TIP60-Associated Protein 54-Alpha2 3
INO80 Complex Subunit H1 2 3     pontin1
NMP2382 3 5     RuvB-Like 1 (E. Coli)1
TIP492 3 5     RuvB-Like AAA ATPase1
RuvB (E Coli Homolog)-Like 11 2     ECP542
Nuclear Matrix Protein 2382 3     PONTIN2
Pontin 522 3     Pontin522
49 KDa TATA Box-Binding Protein-Interacting Protein2 3     RVB12
49 KDa TBP-Interacting Protein2 3     TIH12
54 KDa Erythrocyte Cytosolic Protein2 3     RuvB-Like 12
ECP-542 3     TATA Binding Protein Interacting Protein 49 KDa2
INO80H2 3     EC 3.6.4.123
TAP54-alpha2 3     TIP49a3
TIP49A2 3     EC 3.6.18
NMP 2382 3     

External Ids:    HGNC: 104741   Entrez Gene: 86072   Ensembl: ENSG000001757927   OMIM: 6034495   UniProtKB: Q9Y2653   

Export aliases for RUVBL1 gene to outside databases

Previous GC identifers: GC03U990096 GC03M127983 GC03M129065 GC03M129120 GC03M129282 GC03M125180


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RUVBL1 Gene:
RUVBL1 (RuvB-like AAA ATPase 1) is a protein-coding gene. GO annotations related to this gene include DNA helicase activity and ATPase activity.

UniProtKB/Swiss-Prot: RUVB1_HUMAN, Q9Y265
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. Component of a SWR1-like complex that specifically
mediates the removal of histone H2A.Z/H2AFZ from the nucleosome
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

Gene Wiki entry for RUVBL1 (RuvB-like 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RUVBL1 gene promoter:
         COUP-TF1   TBP   COUP-TF   TFIID   COUP   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRUVBL1 promoter sequence
   Search Chromatin IP Primers for RUVBL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RUVBL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21

RUVBL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RUVBL1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M127783:  view genomic region     (about GC identifiers)

Start:
127,783,621 bp from pter      End:
127,872,757 bp from pter
Size:
89,137 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RUVB1_HUMAN, Q9Y265 (See protein sequence)
Recommended Name: RuvB-like 1  
Size: 456 amino acids; 50228 Da
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 KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5
and RBBP5, as well as the facultative components BAP18, 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. Interacts with HINT1. Component of a complex with USP49 and PSMC5. Component of a SWR1-like complex
Miscellaneous: High level of autoantibodies against RUVBL1 are detected in sera of patients with autoimmune
diseases such as polymyositis/dermatomyosistis and autoimmune hepatitis
2 PDB 3D structures from and Proteopedia for RUVBL1:
2C9O (3D)        2XSZ (3D)    
Secondary accessions: B2R5S0 P82276 Q1KMR0 Q53HK5 Q53HL7 Q53Y27 Q9BSX9
Alternative splicing: 2 isoforms:  Q9Y265-1   Q9Y265-2   

Explore the universe of human proteins at neXtProt for RUVBL1: NX_Q9Y265

Explore proteomics data for RUVBL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys22, Lys171, Lys400
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RUVBL1 (Q9Y265) (see all 27)
     LMENFRR  MLDIECF  EMKQIIK  ATEFDLE 


    See RUVBL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003698.1  
    ENSEMBL proteins: 
     ENSP00000463669   ENSP00000417370   ENSP00000420738   ENSP00000318297   ENSP00000417254  
     ENSP00000393755  
    Reactome Protein details: Q9Y265

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    antibodies-online proteins for RUVBL1 (14 products) 

     
    antibodies-online peptides for RUVBL1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    INO80: INO80 complex subunits
    AATP: ATPases / AAA-type

    4 InterPro protein domains:
     IPR027238 RuvB-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR010339 TIP49_C

    Graphical View of Domain Structure for InterPro Entry Q9Y265

    ProtoNet protein and cluster: Q9Y265

    1 Blocks protein domain: IPB010339 TIP49

    UniProtKB/Swiss-Prot: RUVB1_HUMAN, Q9Y265
    Domain: Binding to MYC is dependent on a Myc domain essential for oncogenic activity
    Similarity: Belongs to the RuvB family


    Find genes that share domains with RUVBL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RUVB1_HUMAN, Q9Y265
    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. Component of a SWR1-like complex that specifically
    mediates the removal of histone H2A.Z/H2AFZ from the nucleosome
    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

         Genatlas biochemistry entry for RUVBL1:
    E coli RUVB homolog-like 1,component of a large nuclear protein complex,possibly the RNA polymerase II
    holozyme,interacting with RUVBL2 and stomatin,localized to tohe nucleus and cytoplasm suggesting an additional
    function as chaperone components.

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003678DNA helicase activity IDA9843967
    GO:0005515protein binding IPI10966108
    GO:0005524ATP binding IEA--
    GO:0009378four-way junction helicase activity ----
         
    Find genes that share ontologies with RUVBL1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for RUVBL1:
     Decreased viability  Decreased viability of wild-ty  Increased cell death in HCC-19  Wnt reporter downregulated 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ruvbl1):
     homeostasis/metabolism 

    Find genes that share phenotypes with RUVBL1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RUVBL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target RUVBL1:
    hsa-mir-193b-3p (MIRT041567), hsa-mir-26b-5p (MIRT030130), hsa-mir-197-3p (MIRT048128)

    Block miRNA regulation of human, mouse, rat RUVBL1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate RUVBL1:
    hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidRUVBL1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RUVB1_HUMAN, Q9Y265: Nucleus matrix. Nucleus, nucleoplasm. Cytoplasm. Membrane. Cytoplasm, cytoskeleton,
    microtubule organizing center, 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    golgi apparatus4
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000812Swr1 complex IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with RUVBL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RUVBL1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathway NetPath0.37
    2Packaging Of Telomere Ends
    Telomere Maintenance0.64
    Nucleosome assembly0.59
    Chromosome Maintenance0.62
    Deposition of New CENPA-containing Nucleosomes at the Centromere0.59
    3RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34
    4Telomere C-strand (Lagging Strand) Synthesis
    Extension of Telomeres0.79
    Telomere Extension By Telomerase0.00
    5Cell Cycle, Mitotic
    Cell Cycle0.90


    Find genes that share SuperPaths with RUVBL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RUVBL1
        Chromatin Regulation / Acetylation

    4 BioSystems Pathways for RUVBL1
        Gastric cancer network 1
    Wnt Signaling Pathway NetPath
    C-MYC pathway
    Validated targets of C-MYC transcriptional activation


    4 Reactome Pathways for RUVBL1
        HATs acetylate histones
    Deposition of new CENPA-containing nucleosomes at the centromere
    Telomere Extension By Telomerase
    formation of the beta-catenin:TCF transactivating complex


    1 Kegg Pathway  (Kegg details for RUVBL1):
        Wnt signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including RUVBL1: 
              WNT Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RUVBL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RUVBL1 (Q9Y2651, 2, 3 ENSP000003182974) via UniProtKB, MINT, STRING, and/or I2D (see all 1295)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=3 STRING: ENSP00000352980
    HIST1H4CP628053, ENSP000003670344I2D: score=3 STRING: ENSP00000367034
    HIST1H4DP628053, ENSP000003432824I2D: score=3 STRING: ENSP00000343282
    HIST1H4EP628053, ENSP000003536244I2D: score=3 STRING: ENSP00000353624
    HIST1H4HP628053, ENSP000002893524I2D: score=3 STRING: ENSP00000289352
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0006325chromatin organization TAS--
    GO:0006334nucleosome assembly TAS--
    GO:0006351transcription, DNA-templated IEA--

    Find genes that share ontologies with RUVBL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for RUVBL1 (RUVB1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RUVBL1 gene: 
    NM_003707.2  

    Unigene Cluster for RUVBL1:

    RuvB-like 1 (E. coli)
    Hs.272822  [show with all ESTs]
    Unigene Representative Sequence: BX647488
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000585057 ENST00000472125 ENST00000464873(uc003ekf.3) ENST00000322623(uc003ekh.3 uc010hss.3)
    ENST00000582176 ENST00000478892 ENST00000480616 ENST00000478243 ENST00000417360

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    Additional mRNA sequence: 

    AB012122.1 AB451224.1 AB451347.1 AF070735.1 AF099084.1 AJ010058.1 AK092163.1 AK222563.1 
    AK222575.1 AK312290.1 BC002993.1 BC012886.1 BT007057.1 BX647488.1 DQ469310.1 Y18418.1 

    22 DOTS entries:

    DT.120891496  DT.100726604  DT.118699  DT.120891067  DT.91774522  DT.100882746  DT.100882772  DT.95225252 
    DT.100882736  DT.91995405  DT.120891303  DT.405564  DT.95225294  DT.100882743  DT.120891046  DT.120891048 
    DT.91774549  DT.95225263  DT.95225337  DT.102838773  DT.120891234  DT.91639332 

    Selected AceView cDNA sequences (see all 507):

    CR601126 BC002993 AA355541 BP348572 BM853700 BU902485 BF794804 AJ708754 
    BI755114 BE281390 CB153317 BP376188 AA312340 BU194542 BU168927 AL553383 
    BM713246 BM763735 BU679668 BG742254 BU185182 BG574582 BM983252 AI659383 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RUVBL1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
    SP1:                                                              -           -               
    SP2:                                      -     -                 -           -               
    SP3:                                                                          -               
    SP4:                    -                                                                     
    SP5:                                                                                          


    ECgene alternative splicing isoforms for RUVBL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    RUVBL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGTGAGATG
    RUVBL1 Expression
    About this image


    RUVBL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    RUVBL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RUVBL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.272822

    UniProtKB/Swiss-Prot: RUVB1_HUMAN, Q9Y265
    Tissue specificity: Ubiquitously expressed with high expression in heart, skeletal muscle and testis

        Pathway & Disease-focused RT2 Profiler PCR Array including RUVBL1: 
              WNT Signaling Pathway in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUVBL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RUVBL1 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ruvbl11 , 5 RuvB-like protein 11, 5 89.4(n)1
    99.78(a)1
      6 (39.51 cM)5
    565051  NM_019685.21  NP_062659.11 
     884654095 
    chicken
    (Gallus gallus)
    Aves RUVBL11 RuvB-like 1 (E. coli) 83.19(n)
    96.27(a)
      416022  NM_001006138.1  NP_001006138.1 
    lizard
    (Anolis carolinensis)
    Reptilia RUVBL16
    RuvB-like AAA ATPase 1
    97(a)
    1 ↔ 1
    2(165682959-165705360)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.79522 Xenopus laevis pontin mRNA, complete cds 81.55(n)    AF218072.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ruvbl12 RuvB-like 1 (E. coli) 77.13(n)   317679  AY092764.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pont1 , 3 DNA helicase3
    pontin1
    79(a)3
    70.11(n)1
    79.56(a)1
      86A33
    534391  NM_144351.41  NP_652608.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C27H6.23
    ruvb-11
    Yeast hypothetical 50.5 KD protein like3
    ruvb-11
    60(a)3
    59.71(n)1
    62.13(a)1
      V(9981625-9983285)3
    1793881  NM_073166.41  NP_505567.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RVB1(YDR190C)4
    RVB11
    Essential protein involved in transcription regulation; component of chromatin remodeling complexes; required for assembly and function of the INO80 complex; also referred to as pontin; member of the RUVB-like protein family less4
    RVB11
    62.21(n)1
    70.74(a)1
      4(841995-840604)4
    8517711, 4  NP_010476.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RIN11 RIN1 67.4(n)
    73.13(a)
      832293  NM_122138.2  NP_197625.1 
    rice
    (Oryza sativa)
    Liliopsida Os.380332 Oryza sativa (japonica cultivar-group) cDNA clone001-124-H05, full insert sequence less 76.05(n)    AK105439.1 


    ENSEMBL Gene Tree for RUVBL1 (if available)
    TreeFam Gene Tree for RUVBL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RUVBL1 gene
    1 SIMAP similar gene for RUVBL1 using alignment to 6 protein entries:     RUVB1_HUMAN (see all proteins):
    RUVBL2

    Find genes that share paralogs with RUVBL1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RUVBL1
    PGOHUM00000250253


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RUVBL1 (see all 852)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1465027601,2
    --127799342(+) TGAGTC/GATGTT 1 -- int10--------
    rs1486937271,2
    --127799556(+) TGTCAC/TAGCCA 1 -- int10--------
    rs15545341,2
    C,F,A,H--127799669(-) ttattA/Ctactg 1 -- int134Minor allele frequency- C:0.11NS EA NA WA CSA 2922
    rs681185841,2
    C--127799836(+) AACTT-/AGAG  
            
    AGAGA
    1 -- ut310--------
    rs40581571,2
    C--127799851(+) AGAGA-/GAGA  
            
    ATCAA
    2 -- ut31 cds11Minor allele frequency- GAGA:0.00NA 2
    rs729740821,2
    C--127799920(+) GCAACC/TACAGG 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs67796791,2
    C,H--127799935(+) GTTACG/AATAAC 1 -- ut314Minor allele frequency- A:0.00NS EA 408
    rs1421623971,2
    C--127799975(+) GACAGC/TGCTGC 1 -- ut310--------
    rs10572201,2
    C,F,A,H--127799983(-) CGTGGT/GCTGCA 1 -- ut31 ese324Minor allele frequency- G:0.20MN NS EA NA WA CSA 2652
    rs2019919741,2
    C--127800058(+) ACACCG/TGGGGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RUVBL1 (127783621 - 127872757 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RUVBL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3992CNV Insertion18451855
    nsv3991CNV Insertion18451855
    nsv508951CNV Insertion20534489

    Human Gene Mutation Database (HGMD): RUVBL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RUVBL1
    DNA2.0 Custom Variant and Variant Library Synthesis for RUVBL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603449    OMIM disorders: --


    Find genes that share disorders with RUVBL1           About GenesLikeMe

    1 Novoseek inferred disease relationship for RUVBL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmune diseases 15.5 1 9588198 (1)

    Genetic Association Database (GAD): RUVBL1
    Human Genome Epidemiology (HuGE) Navigator: RUVBL1 (2 documents)

    Export disorders for RUVBL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RUVBL1 gene, integrated from 10 sources (see all 144):
    (articles sorted by number of sources associating them with RUVBL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An eukaryotic RuvB-like protein (RUVBL1) essential for growth. (PubMed id 9774387)1, 2, 3, 9 Qiu X.-B.... Dutta A. (J. Biol. Chem. 1998)
    2. TIP49, homologous to the bacterial DNA helicase RuvB, acts as an autoantigen in human. (PubMed id 9588198)1, 2, 3, 9 Makino Y.... Tamura T.-A. (Biochem. Biophys. Res. Commun. 1998)
    3. TIP49b, a new RuvB-like DNA helicase, is included in a complex together with another RuvB-like DNA helicase, TIP49a. (PubMed id 10428817)1, 2, 9 Kanemaki M.... Tamura T.-A. (J. Biol. Chem. 1999)
    4. TIP49 regulates beta-catenin-mediated neoplastic transformation and T-cell factor target gene induction via effects on chromatin remodeling. (PubMed id 14695187)1, 2, 9 Feng Y.... Fearon E.R. (Cancer Res. 2003)
    5. Isolation, molecular characterization, and tissue-specific expression of ECP-51 and ECP-54 (TIP49), two homologous, interacting erythroid cytosolic proteins. (PubMed id 10524211)1, 2, 9 Salzer U.... Prohaska R. (Biochim. Biophys. Acta 1999)
    6. A mammalian chromatin remodeling complex with similarities to the yeast INO80 complex. (PubMed id 16230350)1, 2, 9 Jin J.... Conaway J.W. (J. Biol. Chem. 2005)
    7. An ATPase/helicase complex is an essential cofactor for oncogenic transformation by c-Myc. (PubMed id 10882073)1, 2, 9 Wood M.A.... Cole M.D. (Mol. Cell 2000)
    8. Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. (PubMed id 17761535)1, 2, 9 Giorgio G....Franco B. (Mol. Biol. Cell 2007)
    9. BAF53 forms distinct nuclear complexes and functions as a critical c- Myc-interacting nuclear cofactor for oncogenic transformation. (PubMed id 11839798)1, 2, 9 Park J.... Cole M.D. (Mol. Cell. Biol. 2002)
    10. USP49 deubiquitinates histone H2B and regulates cotranscriptional pre-mRNA splicing. (PubMed id 23824326)1, 2 Zhang Z....Wang H. (amp 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8607 HGNC: 10474 AceView: RUVBL1 Ensembl:ENSG00000175792 euGenes: HUgn8607
    ECgene: RUVBL1 Kegg: 8607 H-InvDB: RUVBL1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RUVBL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RUVBL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RUVBL1 gene:
    Search GeneIP for patents involving RUVBL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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