RUVBL1 - RuvB like AAA ATPase 1 Gene

Homo sapiens

Also known as RVB1; TIH1; ECP54; TIP49; ECP-54; INO80H; NMP238; PONTIN; TIP49A; NMP 238; Pontin52

Gene ID: 8607 | Gene type: protein coding

About RUVBL1

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:128,064,785-128,153,914 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 218 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 12.6), placenta (RPKM 10.9) and 25 other tissues.

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]

RUVBL1 Products(3)

mRNA	Protein	Name
NM_001319084.2	NP_001306013.1	ruvB-like 1 isoform 2
NM_001319086.1	NP_001306015.1	ruvB-like 1 isoform 3
NM_003707.3	NP_003698.1	ruvB-like 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	10966108	GOA
enables ATP hydrolysis activity	IMP IMP: Inferred from mutant phenotype	33205750	GOA
enables DNA helicase activity	IDA IDA: Inferred from direct assay	9843967	GOA
enables TBP-class protein binding	IDA IDA: Inferred from direct assay	11080158	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10966108	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	11080158	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	21303910	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	27641337	GOA
involved in positive regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	11080158	GOA
involved in positive regulation of double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	27153538	GOA
involved in regulation of DNA replication	IMP IMP: Inferred from mutant phenotype	25016522	GOA
involved in regulation of DNA strand elongation	IMP IMP: Inferred from mutant phenotype	25016522	GOA
involved in regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	26340092	GOA
involved in regulation of chromosome organization	IMP IMP: Inferred from mutant phenotype	26340092	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Ino80 complex	IDA IDA: Inferred from direct assay	18026119	GOA
part of MLL1 complex	IDA IDA: Inferred from direct assay	15960975	GOA
part of NuA4 histone acetyltransferase complex	IDA IDA: Inferred from direct assay	10966108	GOA
part of R2TP complex	IDA IDA: Inferred from direct assay	26711270	GOA
part of R2TP complex	IPI IPI: Inferred from physical interaction	29662061	GOA
part of RPAP3/R2TP/prefoldin-like complex	IPI IPI: Inferred from physical interaction	31738558	GOA
part of Swr1 complex	IDA IDA: Inferred from direct assay	24463511	GOA
part of nucleosome	IDA IDA: Inferred from direct assay	27153538	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9843967	GOA
part of protein folding chaperone complex	IPI IPI: Inferred from physical interaction	29844425	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RUVBL1 Protein Structure

TIP49

0
100
200
300
400
456 a.a.

Protein Preferred Names

Protein Names

ruvB-like 1

49 kDa TATA box-binding protein-interacting protein

RUVBL1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RUVBL1	Q9Y265	TERT	Homo sapiens	O14746	Pull Down	18358808
Intra	RUVBL1	Q9Y265	TERT	Homo sapiens	O14746	Anti Tag CoIP	18358808
Intra	RUVBL1	Q9Y265	TERT	Homo sapiens	O14746	Density Sedimentation	18358808
Intra	RUVBL1	Q9Y265	ZNHIT2	Homo sapiens	Q9UHR6	Anti Tag CoIP	33961781
Intra	RUVBL1	Q9Y265	ZNHIT2	Homo sapiens	Q9UHR6	Anti Tag CoIP	28514442
Intra	RUVBL1	Q9Y265	ECD	Homo sapiens	O95905	Anti Tag CoIP	33961781
Intra	RUVBL1	Q9Y265	ECD	Homo sapiens	O95905	Anti Bait CoIP	26711270
Intra	RUVBL1	Q9Y265	NPHP3	Homo sapiens	Q7Z494	Anti Tag CoIP	29959317
Intra	RUVBL1	Q9Y265	IQCB1	Homo sapiens	Q15051	Anti Tag CoIP	29959317
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	Anti Bait CoIP	16230350
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	Anti Tag CoIP	33961781
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	3D-EM	29323271
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	Anti Tag CoIP	18087039
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	Anti Tag CoIP	18358808
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	Density Sedimentation	18358808
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	Anti Tag CoIP	28514442
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	Anti Tag CoIP	35271311
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	Anti Bait CoIP	17353931
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	Pull Down	20371770
Intra	RUVBL1	Q9Y265	RUVBL2	Homo sapiens	Q9Y230	Y2H Array	20211142
Intra	RUVBL1	Q9Y265	TP53	Homo sapiens	P04637	IF	25857266
Intra	RUVBL1	Q9Y265	TP53	Homo sapiens	P04637	Anti Tag CoIP	25857266
Intra	RUVBL1	Q9Y265	TP53	Homo sapiens	P04637	Anti Bait CoIP	25857266
Intra	RUVBL1	Q9Y265	KAT5	Homo sapiens	Q92993	Anti Tag CoIP	33961781
Intra	RUVBL1	Q9Y265	KAT5	Homo sapiens	Q92993	Anti Bait CoIP	16230350
Intra	RUVBL1	Q9Y265	KAT5	Homo sapiens	Q92993	Anti Tag CoIP	18087039
Intra	RUVBL1	Q9Y265	KAT5	Homo sapiens	Q92993	Anti Tag CoIP	35271311
Intra	RUVBL1	Q9Y265	VPS72	Homo sapiens	Q15906	Anti Tag CoIP	35271311
Intra	RUVBL1	Q9Y265	VPS72	Homo sapiens	Q15906	Chromatography	15647280
Intra	RUVBL1	Q9Y265	VPS72	Homo sapiens	Q15906	Anti Bait CoIP	16230350
Intra	RUVBL1	Q9Y265	VPS72	Homo sapiens	Q15906	Anti Tag CoIP	33961781
Intra	RUVBL1	Q9Y265	VPS72	Homo sapiens	Q15906	Anti Tag CoIP	28514442
Intra	RUVBL1	Q9Y265	NPHP4	Homo sapiens	O75161	Anti Tag CoIP	29959317
Intra	RUVBL1	Q9Y265	CTNNB1	Homo sapiens	P35222	Anti Tag CoIP	18087039
Intra	RUVBL1	Q9Y265	DKC1	Homo sapiens	O60832	Anti Tag CoIP	33961781
Intra	RUVBL1	Q9Y265	DKC1	Homo sapiens	O60832	Anti Tag CoIP	18358808
Intra	RUVBL1	Q9Y265	DKC1	Homo sapiens	O60832	Anti Tag CoIP	28514442
Intra	RUVBL1	Q9Y265	DKC1	Homo sapiens	O60832	Pull Down	18358808
Intra	RUVBL1	Q9Y265	INVS	Homo sapiens	Q9Y283	Anti Tag CoIP	29959317
Intra	RUVBL1	Q9Y265	YY1	Homo sapiens	P25490	Anti Tag CoIP	33961781
Intra	RUVBL1	Q9Y265	YY1	Homo sapiens	P25490	Pull Down	18026119
Intra	RUVBL1	Q9Y265	YY1	Homo sapiens	P25490	Anti Tag CoIP	28514442
Intra	RUVBL1	Q9Y265	UBE2I	Homo sapiens	P63279	Anti Tag CoIP	18087039
Intra	RUVBL1	Q9Y265	UBE2I	Homo sapiens	P63279	Anti Bait CoIP	18087039
Intra	RUVBL1	Q9Y265	NPHP1	Homo sapiens	O15259	Anti Tag CoIP	29959317

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant RUVBL1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76016	RUVBL1 Protein, Human (sf9, His)	Q9Y265 (M1-K456)	≥95%

RUVBL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82940	RuvB Like 1 Antibody (YA2685)	WB, FC	Human, Mouse, Rat

Related Diseases

Diseases

Alias

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease	Isolated Polycystic Liver Disease
Pcld	Congenital Cystic Liver Disease
Congenital Hepatic Cyst	Fibrocystic Liver Disease
Isolated Autosomal Dominant Polycystic Liver Disease	Adpcld
Liver Disease, Polycystic	Multiple Cysts Of Liver
Pld - [Polycystic Liver Disease]	Polycystic Liver Disorder
Polycystic Liver	Congenital Polycystic Disease Of Liver
Congenital Polycystic Liver Disease

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-114429	CB-6644	Inhibitor	99.88%	Unkown
HY-146074	RUVBL1/2 ATPase-IN-1		99.63%	Unkown
HY-RS12354	RUVBL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RUVBL1	RGD	RGD:68373
Bos taurus	RUVBL1	VGNC	VGNC:34223
Canis familiaris	RUVBL1	VGNC	VGNC:45811
Felis catus	RUVBL1	VGNC	VGNC:64825
Mus musculus	RUVBL1	MGD	MGI:1928760
Macaca mulatta	RUVBL1	VGNC	VGNC:76949
Others	RUVBL1	NCBI

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