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

Gene ID: 8607, updated on 5-Jul-2020

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
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 CRISPRi-FlowFISH-validated RPN1 regulatory element Neighboring gene SEC61 translocon subunit alpha 1 Neighboring gene RUVBL1 antisense RNA 1 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 CRISPRi-FlowFISH-validated H1-10 regulatory element Neighboring gene CRISPRi-validated cis-regulatory element chr3.3676

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-3' DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
ADP binding IEA
Inferred from Electronic Annotation
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase binding IEA
Inferred from Electronic Annotation
more info
 
DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
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
epididymis secretory sperm binding protein
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_001319084.2NP_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/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, 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
    Q9Y265
    Related
    ENSP00000318297.5, ENST00000322623.10
    Conserved Domains (1) summary
    pfam06068
    Location:14416
    TIP49; TIP49 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 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 (1) summary
    pfam06068
    Location:1356
    TIP49; TIP49 C-terminus

RNA

  1. XR_924202.2 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_019805490.1 Reference GRCh38.p13 PATCHES

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