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

Gene ID: 8607, updated on 12-Aug-2018

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; Vega:OTTHUMG00000159658
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

Genomic context

See RUVBL1 in Genome Data Viewer
Location:
3q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (128064611..128153914, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (127799800..127872752, 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 uncharacterized LOC102723759 Neighboring gene RUVBL1 antisense RNA 1 Neighboring gene Sec61 translocon alpha 1 subunit Neighboring gene RNA, U2 small nuclear 37, pseudogene Neighboring gene RNA, U6 small nuclear 823, pseudogene Neighboring gene eukaryotic elongation factor, selenocysteine-tRNA specific Neighboring gene DNAJB8 antisense RNA 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member B8 Neighboring gene GATA2 antisense RNA 1 Neighboring gene GATA binding protein 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

  • C-MYC pathway, organism-specific biosystem (from Pathway Interaction Database)
    C-MYC pathway, organism-specific biosystem
    C-MYC pathway
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
    Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
  • DNA Damage Recognition in GG-NER, organism-specific biosystem (from REACTOME)
    DNA Damage Recognition in GG-NER, organism-specific biosystemIn global genome nucleotide excision repair (GG-NER), the DNA damage is recognized by two protein complexes. The first complex consists of XPC, RAD23A or RAD23B, and CETN2. This complex probes the DN...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Deposition of new CENPA-containing nucleosomes at the centromere, organism-specific biosystem (from REACTOME)
    Deposition of new CENPA-containing nucleosomes at the centromere, organism-specific biosystemEukaryotic centromeres are marked by a unique form of histone H3, designated CENPA in humans. In human cells newly synthesized CENPA is deposited in nucleosomes at the centromere during late telophas...
  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Extension of Telomeres, organism-specific biosystem (from REACTOME)
    Extension of Telomeres, organism-specific biosystemTelomerase acts as reverse transcriptase in the elongation of telomeres (Smogorzewska and de Lange 2004).
  • Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
    Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
  • Gastric Cancer Network 1, organism-specific biosystem (from WikiPathways)
    Gastric Cancer Network 1, organism-specific biosystemNetwork generated by mapping candidate oncogenes and tumor suppressor genes identified by integrated analysis of expression array and aCGH data. Networks generated by Ingenuity Pathway Analysis.
  • Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
    Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
  • HATs acetylate histones, organism-specific biosystem (from REACTOME)
    HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Nucleosome assembly, organism-specific biosystem (from REACTOME)
    Nucleosome assembly, organism-specific biosystemThe formation of centromeric chromatin assembly outside the context of DNA replication involves the assembly of nucleosomes containing the histone H3 variant CenH3 (also called CENP-A).
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
  • Telomere Extension By Telomerase, organism-specific biosystem (from REACTOME)
    Telomere Extension By Telomerase, organism-specific biosystemHumans, like most eukaryotic organisms, add direct repeats to the telomere using a specialized DNA polymerase called telomerase. Telomerase is a ribonucleoprotein (RNP) complex minimally composed of...
  • Telomere Maintenance, organism-specific biosystem (from REACTOME)
    Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...
  • UCH proteinases, organism-specific biosystem (from REACTOME)
    UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...
  • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
    Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
  • Validated targets of C-MYC transcriptional activation, organism-specific biosystem (from Pathway Interaction Database)
    Validated targets of C-MYC transcriptional activation, organism-specific biosystem
    Validated targets of C-MYC transcriptional activation
  • Wnt signaling pathway, organism-specific biosystem (from KEGG)
    Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt signaling pathway, conserved biosystem (from KEGG)
    Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IEA
Inferred from Electronic Annotation
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent 5'-3' DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase binding IEA
Inferred from Electronic Annotation
more info
 
DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
TBP-class protein binding IDA
Inferred from Direct Assay
more info
PubMed 
TFIID-class transcription factor complex binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
CENP-A containing nucleosome assembly TAS
Traceable Author Statement
more info
 
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA recombination IEA
Inferred from Electronic Annotation
more info
 
DNA repair IEA
Inferred from Electronic Annotation
more info
 
beta-catenin-TCF complex assembly TAS
Traceable Author Statement
more info
 
box C/D snoRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H2A acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
positive regulation of telomerase RNA localization to Cajal body HMP PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
regulation of growth IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Ino80 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Ino80 complex IDA
Inferred from Direct Assay
more info
PubMed 
MLL1 complex IDA
Inferred from Direct Assay
more info
PubMed 
NuA4 histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
R2TP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
R2TP complex IDA
Inferred from Direct Assay
more info
PubMed 
Swr1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Swr1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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
nuclear matrix protein 238
pontin 52
NP_001306013.1
NP_001306015.1
NP_003698.1
XP_005247898.1
XP_011511550.1
XP_011511551.1
XP_016862845.1
XP_016862846.1

NCBI Reference Sequences (RefSeq)

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_001319084.1NP_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/Swiss-Prot
    Q9Y265
    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, OTTHUMP00000216128, ENST00000464873.5, OTTHUMT00000356729
    Conserved Domains (1) summary
    pfam06068
    Location:1314
    TIP49; TIP49 C-terminus
  3. NM_003707.2NP_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)
    AW069473, BC002993, DA530328
    Consensus CDS
    CCDS3047.1
    UniProtKB/Swiss-Prot
    Q9Y265
    Related
    ENSP00000318297.5, OTTHUMP00000216127, ENST00000322623.9, OTTHUMT00000356728
    Conserved Domains (1) summary
    pfam06068
    Location:14416
    TIP49; TIP49 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    128064611..128153914 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513249.3XP_011511551.1  ruvB-like 1 isoform X5

    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
  2. XM_017007356.2XP_016862845.1  ruvB-like 1 isoform X1

  3. XM_017007357.2XP_016862846.1  ruvB-like 1 isoform X2

  4. XM_011513248.2XP_011511550.1  ruvB-like 1 isoform X4

    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
  5. XM_005247841.4XP_005247898.1  ruvB-like 1 isoform X3

    See identical proteins and their annotated locations for XP_005247898.1

    Conserved Domains (2) summary
    pfam06068
    Location:1356
    TIP49; TIP49 C-terminus
    cl21455
    Location:659
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_924202.2 RNA Sequence

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_019805490.1 Reference GRCh38.p12 PATCHES

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