RUVBL1 - RuvB like AAA ATPase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8607

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-114429	CB-6644	Inhibitor	99.85%	Unkown
HY-146074	RUVBL1/2 ATPase-IN-1	Inhibitor	99.63%	Unkown
HY-103702	TIP48/49-IN-1		99.07%	Unkown
HY-183643	RUVBL1/2-IN-1		/	Unkown
HY-RS12354	RUVBL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17564	Ruvbl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24024	Ruvbl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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