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Aliases for RUVBL1 Gene

Aliases for RUVBL1 Gene

  • RuvB-Like AAA ATPase 1 2 3
  • INO80 Complex Subunit H 2 3 4
  • NMP238 3 4 6
  • TIP49 3 4 6
  • 49 KDa TATA Box-Binding Protein-Interacting Protein 3 4
  • 54 KDa Erythrocyte Cytosolic Protein 3 4
  • TIP60-Associated Protein 54-Alpha 3 4
  • 49 KDa TBP-Interacting Protein 3 4
  • RuvB (E Coli Homolog)-Like 1 2 3
  • Nuclear Matrix Protein 238 3 4
  • TAP54-Alpha 3 4
  • Pontin 52 3 4
  • NMP 238 3 4
  • ECP-54 3 4
  • INO80H 3 4
  • TIP49A 3 4
  • TATA Binding Protein Interacting Protein 49 KDa 3
  • RuvB-Like 1 (E. Coli) 2
  • RuvB-Like AAA ATPase 2
  • RuvB-Like 1 3
  • EC 3.6.4.12 4
  • Pontin52 3
  • EC 3.6.1 64
  • Pontin 2
  • PONTIN 3
  • ECP54 3
  • TIH1 3
  • RVB1 3

External Ids for RUVBL1 Gene

Summaries for RUVBL1 Gene

GeneCards Summary for RUVBL1 Gene

RUVBL1 (RuvB-Like AAA ATPase 1) is a Protein Coding gene. Among its related pathways are Cell Cycle, Mitotic and Wnt signaling pathway (KEGG). GO annotations related to this gene include ATPase activity and DNA helicase activity.

UniProtKB/Swiss-Prot for RUVBL1 Gene

  • 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

  • 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

  • Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair

  • Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. Essential for cell proliferation

  • May be able to bind plasminogen at cell surface and enhance plasminogen activation

Gene Wiki entry for RUVBL1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUVBL1 Gene

Genomics for RUVBL1 Gene

Genomic Location for RUVBL1 Gene

Start:
128,064,778 bp from pter
End:
128,153,914 bp from pter
Size:
89,137 bases
Orientation:
Minus strand

Genomic View for RUVBL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RUVBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUVBL1 Gene

Regulatory Elements for RUVBL1 Gene

Proteins for RUVBL1 Gene

  • Protein details for RUVBL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y265-RUVB1_HUMAN
    Recommended name:
    RuvB-like 1
    Protein Accession:
    Q9Y265
    Secondary Accessions:
    • B2R5S0
    • P82276
    • Q1KMR0
    • Q53HK5
    • Q53HL7
    • Q53Y27
    • Q9BSX9

    Protein attributes for RUVBL1 Gene

    Size:
    456 amino acids
    Molecular mass:
    50228 Da
    Quaternary structure:
    • 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

    Three dimensional structures from OCA and Proteopedia for RUVBL1 Gene

    Alternative splice isoforms for RUVBL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RUVBL1 Gene

Proteomics data for RUVBL1 Gene at MOPED

Post-translational modifications for RUVBL1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys22, Lys171, and Lys400

Other Protein References for RUVBL1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for RUVBL1 Gene

Gene Families for RUVBL1 Gene

HGNC:
  • AATP :ATPases / AAA-type
  • INO80 :INO80 complex subunits

Protein Domains for RUVBL1 Gene

UniProtKB/Swiss-Prot:

RUVB1_HUMAN
Domain:
  • Binding to MYC is dependent on a Myc domain essential for oncogenic activity:
    • Q9Y265
Family:
  • Belongs to the RuvB family.:
    • Q9Y265
genes like me logo Genes that share domains with RUVBL1: view

Function for RUVBL1 Gene

Molecular function for RUVBL1 Gene

GENATLAS Biochemistry: 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.
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot Function: Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair
UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot Function: May be able to bind plasminogen at cell surface and enhance plasminogen activation

Enzyme Numbers (IUBMB) for RUVBL1 Gene

Gene Ontology (GO) - Molecular Function for RUVBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003678 DNA helicase activity IDA 9843967
GO:0005515 protein binding IPI 10966108
GO:0005524 ATP binding IEA --
GO:0009378 four-way junction helicase activity --
GO:0016887 NOT ATPase activity IDA 10966108
genes like me logo Genes that share ontologies with RUVBL1: view
genes like me logo Genes that share phenotypes with RUVBL1: view

miRNA for RUVBL1 Gene

miRTarBase miRNAs that target RUVBL1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for RUVBL1 Gene

Localization for RUVBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUVBL1 Gene

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
Jensen Localization Image for RUVBL1 Gene COMPARTMENTS Subcellular localization image for RUVBL1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
golgi apparatus 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RUVBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000812 Swr1 complex IDA 24463511
GO:0005634 nucleus IDA 18026119
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with RUVBL1: view

Pathways for RUVBL1 Gene

genes like me logo Genes that share pathways with RUVBL1: view

Pathways by source for RUVBL1 Gene

Gene Ontology (GO) - Biological Process for RUVBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006325 chromatin organization TAS --
GO:0006334 nucleosome assembly TAS --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with RUVBL1: view

Transcripts for RUVBL1 Gene

Unigene Clusters for RUVBL1 Gene

RuvB-like 1 (E. coli):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RUVBL1 Gene

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

Relevant External Links for RUVBL1 Gene

GeneLoc Exon Structure for
RUVBL1
ECgene alternative splicing isoforms for
RUVBL1

Expression for RUVBL1 Gene

mRNA expression in normal human tissues for RUVBL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RUVBL1 Gene

SOURCE GeneReport for Unigene cluster for RUVBL1 Gene Hs.272822

mRNA Expression by UniProt/SwissProt for RUVBL1 Gene

Q9Y265-RUVB1_HUMAN
Tissue specificity: Ubiquitously expressed with high expression in heart, skeletal muscle and testis
genes like me logo Genes that share expressions with RUVBL1: view

Orthologs for RUVBL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RUVBL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RUVBL1 36
  • 99.93 (n)
  • 100 (a)
RUVBL1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RUVBL1 36
  • 89.62 (n)
  • 99.12 (a)
RUVBL1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RUVBL1 36
  • 94.01 (n)
  • 100 (a)
RUVBL1 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm3086 37
  • 85 (a)
OneToMany
Ruvbl1 36
  • 89.4 (n)
  • 99.78 (a)
Ruvbl1 16
Ruvbl1 37
  • 100 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia RUVBL1 37
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUVBL1 37
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ruvbl1 36
  • 90.28 (n)
  • 99.78 (a)
chicken
(Gallus gallus)
Aves RUVBL1 36
  • 83.19 (n)
  • 96.27 (a)
RUVBL1 37
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUVBL1 37
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7952 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ruvbl1 36
  • 81.65 (n)
  • 95.61 (a)
Str.1389 36
zebrafish
(Danio rerio)
Actinopterygii ruvbl1 36
  • 76.75 (n)
  • 91.89 (a)
ruvbl1 37
  • 92 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pont 36
  • 70.11 (n)
  • 79.56 (a)
pont 37
  • 79 (a)
OneToOne
pont 38
  • 79 (a)
worm
(Caenorhabditis elegans)
Secernentea ruvb-1 36
  • 59.71 (n)
  • 62.13 (a)
ruvb-1 37
  • 57 (a)
OneToOne
C27H6.2 38
  • 60 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL119C 36
  • 64.11 (n)
  • 69.82 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RVB1 36
  • 62.21 (n)
  • 70.74 (a)
RVB1 37
  • 67 (a)
OneToOne
RVB1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18502g 36
  • 62.92 (n)
  • 70.26 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6253 36
thale cress
(Arabidopsis thaliana)
eudicotyledons RIN1 36
  • 67.4 (n)
  • 73.13 (a)
corn
(Zea mays)
Liliopsida Zm.5631 36
rice
(Oryza sativa)
Liliopsida Os.38033 36
Os01g0837500 36
  • 66.96 (n)
  • 73.35 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03482 36
  • 65.56 (n)
  • 69.18 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rvb1 36
  • 64.88 (n)
  • 71.36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3702 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3860 37
  • 82 (a)
OneToOne
Species with no ortholog for RUVBL1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RUVBL1 Gene

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

Paralogs for RUVBL1 Gene

Selected SIMAP similar genes for RUVBL1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for RUVBL1 Gene

genes like me logo Genes that share paralogs with RUVBL1: view

No data available for Paralogs for RUVBL1 Gene

Variants for RUVBL1 Gene

Sequence variations from dbSNP and Humsavar for RUVBL1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs14397 -- 128,097,332(-) GTCAT(C/T)TTTGC reference, synonymous-codon
rs15373 -- 128,081,120(-) GTTCA(G/T)TGTGG utr-variant-3-prime
rs940060 -- 128,096,477(+) GGGAA(A/G)GAGTG intron-variant
rs1007232 -- 128,083,053(-) TAACT(G/T)TTTTG intron-variant
rs1007233 -- 128,082,933(-) AGCCC(A/C)GGGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RUVBL1 Gene

Variant ID Type Subtype PubMed ID
nsv3991 CNV Insertion 18451855
nsv508951 CNV Insertion 20534489
nsv3992 CNV Insertion 18451855

Relevant External Links for RUVBL1 Gene

HapMap Linkage Disequilibrium report
RUVBL1
Human Gene Mutation Database (HGMD)
RUVBL1

Disorders for RUVBL1 Gene

(1) Novoseek inferred disease relationships for RUVBL1 Gene

Disease -log(P) Hits PubMed IDs
autoimmune diseases 15.5 1

Relevant External Links for RUVBL1

Genetic Association Database (GAD)
RUVBL1
Human Genome Epidemiology (HuGE) Navigator
RUVBL1
genes like me logo Genes that share disorders with RUVBL1: view

No data available for UniProtKB/Swiss-Prot for RUVBL1 Gene

Publications for RUVBL1 Gene

  1. TIP49, homologous to the bacterial DNA helicase RuvB, acts as an autoantigen in human. (PMID: 9588198) Makino Y. … Tamura T.-A. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 23
  2. An eukaryotic RuvB-like protein (RUVBL1) essential for growth. (PMID: 9774387) Qiu X.-B. … Dutta A. (J. Biol. Chem. 1998) 2 3 4 23
  3. TIP49b, a new RuvB-like DNA helicase, is included in a complex together with another RuvB-like DNA helicase, TIP49a. (PMID: 10428817) Kanemaki M. … Tamura T.-A. (J. Biol. Chem. 1999) 3 4 23
  4. Isolation, molecular characterization, and tissue-specific expression of ECP-51 and ECP-54 (TIP49), two homologous, interacting erythroid cytosolic proteins. (PMID: 10524211) Salzer U. … Prohaska R. (Biochim. Biophys. Acta 1999) 3 4 23
  5. BAF53 forms distinct nuclear complexes and functions as a critical c- Myc-interacting nuclear cofactor for oncogenic transformation. (PMID: 11839798) Park J. … Cole M.D. (Mol. Cell. Biol. 2002) 3 4 23

Products for RUVBL1 Gene

Sources for RUVBL1 Gene

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