Ruvbl1 RuvB-like AAA ATPase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ruvbl1provided by MGI
Official Full Name: RuvB-like AAA ATPase 1provided by MGI
Primary source: MGI:MGI:1928760
See related: Ensembl:ENSMUSG00000030079 AllianceGenome:MGI:1928760
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tip49a; Pontin52; 2510009G06Rik
Summary: Enables ATPase binding activity; TFIID-class transcription factor complex binding activity; and adenyl ribonucleotide binding activity. Involved in positive regulation of DNA metabolic process; regulation of embryonic development; and telomere maintenance. Part of ribonucleoprotein complex. Is expressed in several structures, including branchial arch; cerebral cortex; embryo mesenchyme; genital swelling; and sensory organ. Orthologous to human RUVBL1 (RuvB like AAA ATPase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 29.2), liver E14 (RPKM 28.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 D1; 6 39.51 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (88442391..88474548)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (88465409..88497566)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RUVBL1 ubiquitination by DTL promotes RUVBL1/2-beta-catenin-mediated transcriptional regulation of NHEJ pathway and enhances radiation resistance in breast cancer.
Title: RUVBL1 ubiquitination by DTL promotes RUVBL1/2-β-catenin-mediated transcriptional regulation of NHEJ pathway and enhances radiation resistance in breast cancer.
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.
RUVBL1/2 Complex Regulates Pro-Inflammatory Responses in Macrophages via Regulating Histone H3K4 Trimethylation.
Title: RUVBL1/2 Complex Regulates Pro-Inflammatory Responses in Macrophages via Regulating Histone H3K4 Trimethylation.
Liver haploinsufficiency of RuvBL1 causes hepatic insulin resistance and enhances hepatocellular carcinoma progression.
Title: Liver haploinsufficiency of RuvBL1 causes hepatic insulin resistance and enhances hepatocellular carcinoma progression.
Pontin arginine methylation by CARM1 is crucial for epigenetic regulation of autophagy.
Title: Pontin arginine methylation by CARM1 is crucial for epigenetic regulation of autophagy.
inducible deletion of Ruvbl1 in cells carrying motile cilia results in hydrocephalus, suggesting functional relevance in both primary and motile cilia. Cilia of Ruvbl1-negative cells lack crucial proteins, consistent with the concept of Ruvbl1-dependent cytoplasmic pre-assembly of ciliary protein complexes.
Title: Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.
In mouse testis, Pontin is essential for the stabilization of axonemal dynein intermediate chain 1 (DNAI1) and DNAI2, the first appreciated step in axonemal dynein arm assembly.
Title: Axonemal dynein assembly requires the R2TP complex component Pontin.
accumulating E2f1 progressively recruits a Pontin/Reptin complex to open the chromatin conformation at E2f target genes and amplifies the E2f transcriptional response.
Title: Recruitment of Pontin/Reptin by E2f1 amplifies E2f transcriptional response during cancer progression.
Pontin functions as an essential coactivator for Oct4-dependent large intergenic noncoding RNA expression in mouse embryonic stem cells.
Title: Pontin functions as an essential coactivator for Oct4-dependent lincRNA expression in mouse embryonic stem cells.
Loss of Ruvbl1 gene is associated with bone marrow failure.
Title: Pontin is essential for murine hematopoietic stem cell survival.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

H05L03.2 (e-PCR)
- UniSTS:311318

NoName (e-PCR)
- UniSTS:493377

D6Mit226 (e-PCR), detects polymorphism
- UniSTS:130772

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3'-5' DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables ADP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables TBP-class protein binding	IEA Inferred from Electronic Annotation more info
enables TBP-class protein binding	ISO Inferred from Sequence Orthology more info
enables TFIID-class transcription factor complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables transcription coactivator activity	IEA Inferred from Electronic Annotation more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info

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 division	IEA Inferred from Electronic Annotation more info
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
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	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomere maintenance in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA replication	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA strand elongation	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in regulation of chromosome organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of double-strand break repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Ino80 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Ino80 complex	ISO Inferred from Sequence Orthology more info
part_of MLL1 complex	ISO Inferred from Sequence Orthology more info
part_of MLL1 complex	ISS Inferred from Sequence or Structural Similarity more info
part_of NuA4 histone acetyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NuA4 histone acetyltransferase complex	ISO Inferred from Sequence Orthology more info
part_of NuA4 histone acetyltransferase complex	ISS Inferred from Sequence or Structural Similarity more info
part_of R2TP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of R2TP complex	ISO Inferred from Sequence Orthology more info
part_of R2TP complex	ISS Inferred from Sequence or Structural Similarity more info
part_of RPAP3/R2TP/prefoldin-like complex	IEA Inferred from Electronic Annotation more info
part_of RPAP3/R2TP/prefoldin-like complex	ISO Inferred from Sequence Orthology more info
part_of Swr1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Swr1 complex	ISO Inferred from Sequence Orthology more info
part_of Swr1 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dynein axonemal particle	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of nucleosome	ISO Inferred from Sequence Orthology more info
part_of nucleosome	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein folding chaperone complex	IEA Inferred from Electronic Annotation more info
part_of protein folding chaperone complex	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed

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; DNA helicase p50; Pontin 52; RuvB-like protein 1

NP_062659.1

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.