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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
  • RuvB-Like AAA ATPase 1 2 3 5
  • 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
  • NMP238 3 4
  • TIP49A 3 4
  • TIP49 3 4
  • TATA Binding Protein Interacting Protein 49 KDa 3
  • RuvB-Like 1 (E. Coli) 2
  • RuvB-Like AAA ATPase 2
  • EC 3.6.4.12 4
  • Pontin52 3
  • EC 3.6.1 63
  • Pontin 2
  • PONTIN 3
  • ECP54 3
  • TIH1 3
  • RVB1 3

External Ids for RUVBL1 Gene

Previous GeneCards Identifiers for RUVBL1 Gene

  • GC03U990096
  • GC03M127983
  • GC03M129065
  • GC03M129120
  • GC03M129282
  • GC03M127783
  • GC03M125180

Summaries for RUVBL1 Gene

Entrez Gene Summary for RUVBL1 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]

GeneCards Summary for RUVBL1 Gene

RUVBL1 (RuvB Like AAA ATPase 1) is a Protein Coding gene. Diseases associated with RUVBL1 include polymyositis. Among its related pathways are Signaling by GPCR and Cell Cycle, Mitotic. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUVBL1 Gene

Genomics for RUVBL1 Gene

Regulatory Elements for RUVBL1 Gene

Promoters for RUVBL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RUVBL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RUVBL1 Gene

Chromosome:
3
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

Genes around RUVBL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUVBL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUVBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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. Component of the R2TP complex composed at least of PIHD1, RUVBL1, RUVBL2 and RPAP3 (PubMed:20864032). Interacts with PIH1D1 (PubMed:17636026). Interacts with ITFG1 (PubMed:25437307).
    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

  • Ubiquitination at Lys 22 and Lys 400
  • Modification sites at PhosphoSitePlus

Other Protein References for RUVBL1 Gene

Domains & Families for RUVBL1 Gene

Gene Families for RUVBL1 Gene

Protein Domains for RUVBL1 Gene

Suggested Antigen Peptide Sequences for RUVBL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y265

UniProtKB/Swiss-Prot:

RUVB1_HUMAN :
  • Binding to MYC is dependent on a Myc domain essential for oncogenic activity.
  • Belongs to the RuvB family.
Domain:
  • Binding to MYC is dependent on a Myc domain essential for oncogenic activity.
Family:
  • Belongs to the RuvB family.
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:0005515 protein binding IPI 10966108
GO:0043141 ATP-dependent 5-3 DNA helicase activity IEA --
genes like me logo Genes that share ontologies with RUVBL1: view
genes like me logo Genes that share phenotypes with RUVBL1: view

Animal Models for RUVBL1 Gene

MGI Knock Outs for RUVBL1:

Animal Model Products

miRNA for RUVBL1 Gene

miRTarBase miRNAs that target RUVBL1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
extracellular 5
golgi apparatus 5
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RUVBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0016363 nuclear matrix IEA --
GO:0035267 NuA4 histone acetyltransferase complex IDA 10966108
GO:0070062 extracellular exosome IDA 20458337
GO:0097255 R2TP complex IDA 26711270
genes like me logo Genes that share ontologies with RUVBL1: view

Pathways & Interactions 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:0006334 nucleosome assembly TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0032508 DNA duplex unwinding IEA --
GO:0040008 regulation of growth IEA --
genes like me logo Genes that share ontologies with RUVBL1: view

No data available for SIGNOR curated interactions for RUVBL1 Gene

Drugs & Compounds for RUVBL1 Gene

(1) Drugs for RUVBL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for RUVBL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with RUVBL1: view

Transcripts for RUVBL1 Gene

Unigene Clusters for RUVBL1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for RUVBL1 Gene

This gene is overexpressed in Lymph node (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RUVBL1: view

Protein tissue co-expression partners for RUVBL1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for RUVBL1 Gene

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
  • 100 (a)
OneToOne
RUVBL1 35
  • 99.93 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia RUVBL1 36
  • 99 (a)
OneToOne
RUVBL1 35
  • 89.62 (n)
  • 99.12 (a)
dog
(Canis familiaris)
Mammalia RUVBL1 35
  • 94.01 (n)
  • 100 (a)
RUVBL1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm3086 36
  • 85 (a)
OneToMany
Ruvbl1 36
  • 100 (a)
OneToMany
Ruvbl1 35
  • 89.4 (n)
  • 99.78 (a)
Ruvbl1 16
oppossum
(Monodelphis domestica)
Mammalia RUVBL1 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUVBL1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ruvbl1 35
  • 90.28 (n)
  • 99.78 (a)
chicken
(Gallus gallus)
Aves RUVBL1 35
  • 83.19 (n)
  • 96.27 (a)
RUVBL1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUVBL1 36
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7952 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ruvbl1 35
  • 81.65 (n)
  • 95.61 (a)
Str.1389 35
zebrafish
(Danio rerio)
Actinopterygii ruvbl1 35
  • 76.75 (n)
  • 91.89 (a)
ruvbl1 36
  • 92 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pont 37
  • 79 (a)
pont 35
  • 70.11 (n)
  • 79.56 (a)
pont 36
  • 79 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ruvb-1 36
  • 57 (a)
OneToOne
C27H6.2 37
  • 60 (a)
ruvb-1 35
  • 59.71 (n)
  • 62.13 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL119C 35
  • 64.11 (n)
  • 69.82 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RVB1 35
  • 62.21 (n)
  • 70.74 (a)
RVB1 36
  • 67 (a)
OneToOne
RVB1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18502g 35
  • 62.92 (n)
  • 70.26 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6253 35
thale cress
(Arabidopsis thaliana)
eudicotyledons RIN1 35
  • 67.4 (n)
  • 73.13 (a)
corn
(Zea mays)
Liliopsida Zm.5631 35
rice
(Oryza sativa)
Liliopsida Os.38033 35
Os01g0837500 35
  • 66.96 (n)
  • 73.35 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03482 35
  • 65.56 (n)
  • 69.18 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rvb1 35
  • 64.88 (n)
  • 71.36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3702 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3860 36
  • 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

(1) 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
rs15373 -- 128,081,120(-) GTTCA(G/T)TGTGG intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1802411 -- 128,081,249(-) AGTGA(A/G)ATGGC intron-variant, nc-transcript-variant, utr-variant-3-prime
rs2177282 -- 128,080,856(-) ttgtc(A/G)ccgtg intron-variant, downstream-variant-500B
rs2687725 -- 128,146,707(-) acgca(C/T)agaga intron-variant
rs2687726 -- 128,146,305(-) cgcac(A/G)tgcac 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

Variation tolerance for RUVBL1 Gene

Residual Variation Intolerance Score: 15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 3.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RUVBL1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUVBL1 Gene

Disorders for RUVBL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RUVBL1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
polymyositis
  • pm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RUVBL1

Genetic Association Database (GAD)
RUVBL1
Human Genome Epidemiology (HuGE) Navigator
RUVBL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RUVBL1
genes like me logo Genes that share disorders with RUVBL1: view

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

Publications for RUVBL1 Gene

  1. An eukaryotic RuvB-like protein (RUVBL1) essential for growth. (PMID: 9774387) Qiu X.-B. … Dutta A. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. 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 23
  3. AAA+ proteins RUVBL1 and RUVBL2 coordinate PIKK activity and function in nonsense-mediated mRNA decay. (PMID: 20371770) Izumi N. … Ohno S. (Sci. Signal. 2010) 3 23
  4. Evidence that the AAA+ proteins TIP48 and TIP49 bridge interactions between 15.5K and the related NOP56 and NOP58 proteins during box C/D snoRNP biogenesis. (PMID: 19620283) McKeegan K.S. … Watkins N.J. (Mol. Cell. Biol. 2009) 3 23
  5. A dynamic scaffold of pre-snoRNP factors facilitates human box C/D snoRNP assembly. (PMID: 17636026) McKeegan K.S. … Watkins N.J. (Mol. Cell. Biol. 2007) 3 23

Products for RUVBL1 Gene

Sources for RUVBL1 Gene

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