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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adenovirus E1A binding to DCAF10 targets proteasomal degradation of RUVBL1/2 AAA+ ATPases required for quaternary assembly of multiprotein machines, innate immunity, and responses to metabolic stress.
Title: Adenovirus E1A binding to DCAF10 targets proteasomal degradation of RUVBL1/2 AAA+ ATPases required for quaternary assembly of multiprotein machines, innate immunity, and responses to metabolic stress.
Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression.
Title: Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression.
Downregulation of AHNAK2 inhibits cell cycle of lung adenocarcinoma cells by interacting with RUVBL1.
Title: Downregulation of AHNAK2 inhibits cell cycle of lung adenocarcinoma cells by interacting with RUVBL1.
Epigenetic Control of Translation Checkpoint and Tumor Progression via RUVBL1-EEF1A1 Axis.
Title: Epigenetic Control of Translation Checkpoint and Tumor Progression via RUVBL1-EEF1A1 Axis.
Hippocalcin-Like 1 blunts liver lipid metabolism to suppress tumorigenesis via directly targeting RUVBL1-mTOR signaling.
Title: Hippocalcin-Like 1 blunts liver lipid metabolism to suppress tumorigenesis via directly targeting RUVBL1-mTOR signaling.
Recruitment of LEF1 by Pontin chromatin modifier amplifies TGFBR2 transcription and activates TGFbeta/SMAD signalling during gliomagenesis.
Title: Recruitment of LEF1 by Pontin chromatin modifier amplifies TGFBR2 transcription and activates TGFβ/SMAD signalling during gliomagenesis.
RUVBL1 promotes enzalutamide resistance of prostate tumors through the PLXNA1-CRAF-MAPK pathway.
Title: RUVBL1 promotes enzalutamide resistance of prostate tumors through the PLXNA1-CRAF-MAPK pathway.
The Expression of the RUVBL1 Component of the R2TP Complex Correlates with Poor Prognosis in DLBCL.
Title: The Expression of the RUVBL1 Component of the R2TP Complex Correlates with Poor Prognosis in DLBCL.
Involvement of RUVBL1 in WNT/beta-Catenin Signaling in Oral Squamous Cell Carcinoma.
Title: Involvement of RUVBL1 in WNT/β-Catenin Signaling in Oral Squamous Cell Carcinoma.
Assembly of the asymmetric human gamma-tubulin ring complex by RUVBL1-RUVBL2 AAA ATPase.
Title: Assembly of the asymmetric human γ-tubulin ring complex by RUVBL1-RUVBL2 AAA ATPase.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S4244 (e-PCR)
- UniSTS:57420

PMC24527P1 (e-PCR)
- UniSTS:272258

RH26475 (e-PCR)
- UniSTS:88506

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 more info	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 more info	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 more info	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

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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

EC 3.6.4.12

NP_001306015.1

EC 3.6.4.12

NP_003698.1

EC 3.6.4.12

XP_011511550.1

EC 3.6.4.12

XP_011511551.1

EC 3.6.4.12

XP_016862845.1

EC 3.6.4.12

XP_016862846.1

EC 3.6.4.12

XP_054204138.1

EC 3.6.4.12

XP_054204139.1

EC 3.6.4.12

XP_054204140.1

EC 3.6.4.12

XP_054204141.1

EC 3.6.4.12

XP_054204142.1

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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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)

NM_001319084.2 → NP_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:14 → 380

TIP49; TIP49 C-terminus
NM_001319086.1 → NP_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:1 → 314

TIP49; TIP49 C-terminus
NM_003707.3 → NP_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:2 → 455

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

128064785..128153914 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B5BUB1
XM_011513249.4 → XP_011511551.1 ruvB-like 1 isoform X4

UniProtKB/TrEMBL

B3KRS7

Conserved Domains (3) summary

pfam06068
Location:14 → 374

TIP49; TIP49 C-terminus

pfam13191
Location:39 → 90

AAA_16; AAA ATPase domain

cl21455
Location:66 → 119

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_017007356.3 → XP_016862845.1 ruvB-like 1 isoform X1

UniProtKB/TrEMBL

B5BUB1
XM_011513248.3 → XP_011511550.1 ruvB-like 1 isoform X3

Conserved Domains (3) summary

pfam06068
Location:14 → 339

TIP49; TIP49 C-terminus

pfam13191
Location:39 → 90

AAA_16; AAA ATPase domain

cl21455
Location:66 → 119

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases