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    RUVBL1 RuvB like AAA ATPase 1 [ Homo sapiens (human) ]

    Gene ID: 8607, updated on 7-Apr-2024

    Summary

    Official Symbol
    RUVBL1provided by HGNC
    Official Full Name
    RuvB like AAA ATPase 1provided by HGNC
    Primary source
    HGNC:HGNC:10474
    See related
    Ensembl:ENSG00000175792 MIM:603449; AllianceGenome:HGNC:10474
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RVB1; TIH1; ECP54; TIP49; ECP-54; INO80H; NMP238; PONTIN; TIP49A; NMP 238; Pontin52
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 12.6), placenta (RPKM 10.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RUVBL1 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (128064785..128153914, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (130799360..130895553, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (127783628..127872757, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene kelch repeat and BTB domain containing 12 Neighboring gene RNA, 5S ribosomal pseudogene 139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127730388-127730888 Neighboring gene uncharacterized LOC102723759 Neighboring gene Sharpr-MPRA regulatory region 3038 Neighboring gene CRISPRi-FlowFISH-validated RPN1 regulatory element 1 Neighboring gene Sharpr-MPRA regulatory regions 9818 and 11773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14701 Neighboring gene SEC61 translocon subunit alpha 1 Neighboring gene RUVBL1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:127819055-127819574 Neighboring gene RNA, U2 small nuclear 37, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14702 Neighboring gene Sharpr-MPRA regulatory region 11416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127865444-127866013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14703 Neighboring gene RNA, U6 small nuclear 823, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8761 Neighboring gene CRISPRi-FlowFISH-validated H1-10 regulatory element 1 Neighboring gene eukaryotic elongation factor, selenocysteine-tRNA specific Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127945585-127946085 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127999447-127999964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128001517-128002034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128004261-128004760 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128005625-128006126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128035068-128035620 Neighboring gene Sharpr-MPRA regulatory region 3031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128053445-128054066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128054067-128054686 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:128062271-128062684 Neighboring gene Sharpr-MPRA regulatory regions 13692 and 14760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128087685-128088185 Neighboring gene Sharpr-MPRA regulatory region 10596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128107303-128107892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128107893-128108480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128118070-128118864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128118865-128119659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128120455-128121248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128126077-128126958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128128140-128128788 Neighboring gene CRISPRi-validated cis-regulatory element chr3.3676 Neighboring gene CRISPRi-validated cis-regulatory element chr3.3677 Neighboring gene CRISPRi-validated cis-regulatory element chr3.3678 Neighboring gene CRISPRi-validated cis-regulatory element chr3.3679 Neighboring gene CRISPRi-FlowFISH-validated RPN1 regulatory element 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128146331-128146889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128150709-128151289 Neighboring gene uncharacterized LOC124909428 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128151290-128151869 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128151870-128152450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128154435-128155122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20483 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128170962-128171462 Neighboring gene uncharacterized LOC124909429

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with RUVBL1 PubMed
    Pol gag-pol HIV-1 Pol is identified to have a physical interaction with RuvB-like 1 (RUVBL1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Rev rev HIV-1 Rev interacting protein, RuvB-like 1 (RUVBL1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with RUVBL1 is increased by RRE PubMed
    Tat tat The core of the p400/TRRAP complex, consists of BAF53A, P400, RUVBL1, RUVBL2, TRRAP, are identified to interact with HIV-1 Tat in Jurkat cell PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP hydrolysis activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ATPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables TBP-class protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables TFIID-class transcription factor complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in box C/D snoRNP assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of telomerase RNA localization to Cajal body HMP PubMed 
    involved_in positive regulation of telomere maintenance in response to DNA damage ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein stabilization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA strand elongation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of double-strand break repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of embryonic development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of Ino80 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Ino80 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of MLL1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NuA4 histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of NuA4 histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of R2TP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of R2TP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of R2TP complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of RPAP3/R2TP/prefoldin-like complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of Swr1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Swr1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in dynein axonemal particle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of nucleosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nucleosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein folding chaperone complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ruvB-like 1
    Names
    49 kDa TATA box-binding protein-interacting protein
    49 kDa TBP-interacting protein
    54 kDa erythrocyte cytosolic protein
    INO80 complex subunit H
    RuvB (E coli homolog)-like 1
    RuvB-like AAA ATPase
    TAP54-alpha
    TATA binding protein interacting protein 49 kDa
    TIP60-associated protein 54-alpha
    epididymis secretory sperm binding protein
    nuclear matrix protein 238
    pontin 52
    NP_001306013.1
    NP_001306015.1
    NP_003698.1
    XP_011511550.1
    XP_011511551.1
    XP_016862845.1
    XP_016862846.1
    XP_054204138.1
    XP_054204139.1
    XP_054204140.1
    XP_054204141.1
    XP_054204142.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001319084.2NP_001306013.1  ruvB-like 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC069419, AI869326, BX447686, DQ469310
      UniProtKB/TrEMBL
      B3KRS7
      Conserved Domains (1) summary
      pfam06068
      Location:14380
      TIP49; TIP49 C-terminus
    2. NM_001319086.1NP_001306015.1  ruvB-like 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon and in a distinct 3' UTR and 3' coding region, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus and a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC069419, AK092163, AL449214
      Consensus CDS
      CCDS82833.1
      UniProtKB/TrEMBL
      B3KRS7, E7ETR0
      Related
      ENSP00000420738.1, ENST00000464873.5
      Conserved Domains (1) summary
      pfam06068
      Location:1314
      TIP49; TIP49 C-terminus
    3. NM_003707.3NP_003698.1  ruvB-like 1 isoform 1

      See identical proteins and their annotated locations for NP_003698.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform 1.
      Source sequence(s)
      AC069419, AW069473, BC002993, DA530328
      Consensus CDS
      CCDS3047.1
      UniProtKB/Swiss-Prot
      B2R5S0, P82276, Q1KMR0, Q53HK5, Q53HL7, Q53Y27, Q9BSX9, Q9Y265
      UniProtKB/TrEMBL
      A0A384MTR5, B5BUB1
      Related
      ENSP00000318297.5, ENST00000322623.10
      Conserved Domains (1) summary
      COG1224
      Location:2455
      TIP49; DNA helicase TIP49, TBP-interacting protein [Transcription]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      128064785..128153914 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007357.3XP_016862846.1  ruvB-like 1 isoform X2

      UniProtKB/TrEMBL
      B5BUB1
    2. XM_011513249.4XP_011511551.1  ruvB-like 1 isoform X4

      UniProtKB/TrEMBL
      B3KRS7
      Conserved Domains (3) summary
      pfam06068
      Location:14374
      TIP49; TIP49 C-terminus
      pfam13191
      Location:3990
      AAA_16; AAA ATPase domain
      cl21455
      Location:66119
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. XM_017007356.3XP_016862845.1  ruvB-like 1 isoform X1

      UniProtKB/TrEMBL
      B5BUB1
    4. XM_011513248.3XP_011511550.1  ruvB-like 1 isoform X3

      Conserved Domains (3) summary
      pfam06068
      Location:14339
      TIP49; TIP49 C-terminus
      pfam13191
      Location:3990
      AAA_16; AAA ATPase domain
      cl21455
      Location:66119
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_019805490.1 Reference GRCh38.p14 PATCHES

      Range
      22255..23010 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      130799360..130895553 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348164.1XP_054204139.1  ruvB-like 1 isoform X2

    2. XM_054348167.1XP_054204142.1  ruvB-like 1 isoform X4

    3. XM_054348163.1XP_054204138.1  ruvB-like 1 isoform X1

    4. XM_054348165.1XP_054204140.1  ruvB-like 1 isoform X3

    5. XM_054348166.1XP_054204141.1  ruvB-like 1 isoform X3