Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8607
Gene name Gene Name - the full gene name approved by the HGNC.	RuvB like AAA ATPase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RUVBL1
Synonyms (NCBI Gene) Gene synonyms aliases	ECP-54, ECP54, INO80H, NMP 238, NMP238, PONTIN, Pontin52, RVB1, TIH1, TIP49, TIP49A
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 transcription

Show/Hide all(94)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030130	hsa-miR-26b-5p	Microarray	19088304
MIRT048128	hsa-miR-197-3p	CLASH	23622248
MIRT041567	hsa-miR-193b-3p	CLASH	23622248
MIRT1323168	hsa-miR-1915	CLIP-seq
MIRT1323169	hsa-miR-1972	CLIP-seq
MIRT1323170	hsa-miR-2277-3p	CLIP-seq
MIRT1323171	hsa-miR-3144-5p	CLIP-seq
MIRT1323172	hsa-miR-3158-5p	CLIP-seq
MIRT1323173	hsa-miR-3166	CLIP-seq
MIRT1323174	hsa-miR-3191	CLIP-seq
MIRT1323175	hsa-miR-3545-3p	CLIP-seq
MIRT1323176	hsa-miR-3652	CLIP-seq
MIRT1323177	hsa-miR-3660	CLIP-seq
MIRT1323178	hsa-miR-4269	CLIP-seq
MIRT1323179	hsa-miR-4323	CLIP-seq
MIRT1323180	hsa-miR-4430	CLIP-seq
MIRT1323181	hsa-miR-4438	CLIP-seq
MIRT1323182	hsa-miR-4481	CLIP-seq
MIRT1323183	hsa-miR-4526	CLIP-seq
MIRT1323184	hsa-miR-4645-5p	CLIP-seq
MIRT1323185	hsa-miR-4652-5p	CLIP-seq
MIRT1323186	hsa-miR-4673	CLIP-seq
MIRT1323187	hsa-miR-4688	CLIP-seq
MIRT1323188	hsa-miR-4745-5p	CLIP-seq
MIRT1323189	hsa-miR-4755-3p	CLIP-seq
MIRT1323190	hsa-miR-4758-5p	CLIP-seq
MIRT1323191	hsa-miR-4771	CLIP-seq
MIRT1323192	hsa-miR-491-5p	CLIP-seq
MIRT1323193	hsa-miR-711	CLIP-seq
MIRT2320265	hsa-miR-140-3p	CLIP-seq
MIRT2320266	hsa-miR-330-3p	CLIP-seq
MIRT2320267	hsa-miR-607	CLIP-seq
MIRT2616234	hsa-miR-1228	CLIP-seq
MIRT1323168	hsa-miR-1915	CLIP-seq
MIRT1323169	hsa-miR-1972	CLIP-seq
MIRT1323170	hsa-miR-2277-3p	CLIP-seq
MIRT1323171	hsa-miR-3144-5p	CLIP-seq
MIRT2616235	hsa-miR-3150a-3p	CLIP-seq
MIRT1323172	hsa-miR-3158-5p	CLIP-seq
MIRT1323173	hsa-miR-3166	CLIP-seq
MIRT2616236	hsa-miR-3175	CLIP-seq
MIRT1323174	hsa-miR-3191	CLIP-seq
MIRT1323176	hsa-miR-3652	CLIP-seq
MIRT1323178	hsa-miR-4269	CLIP-seq
MIRT2616237	hsa-miR-4294	CLIP-seq
MIRT1323179	hsa-miR-4323	CLIP-seq
MIRT1323180	hsa-miR-4430	CLIP-seq
MIRT1323181	hsa-miR-4438	CLIP-seq
MIRT1323182	hsa-miR-4481	CLIP-seq
MIRT1323184	hsa-miR-4645-5p	CLIP-seq
MIRT1323185	hsa-miR-4652-5p	CLIP-seq
MIRT2616238	hsa-miR-4667-5p	CLIP-seq
MIRT1323186	hsa-miR-4673	CLIP-seq
MIRT1323187	hsa-miR-4688	CLIP-seq
MIRT2616239	hsa-miR-4700-5p	CLIP-seq
MIRT1323188	hsa-miR-4745-5p	CLIP-seq
MIRT1323189	hsa-miR-4755-3p	CLIP-seq
MIRT1323190	hsa-miR-4758-5p	CLIP-seq
MIRT1323191	hsa-miR-4771	CLIP-seq
MIRT1323192	hsa-miR-491-5p	CLIP-seq
MIRT2616240	hsa-miR-550b	CLIP-seq
MIRT1323193	hsa-miR-711	CLIP-seq
MIRT2616241	hsa-miR-939	CLIP-seq
MIRT2616234	hsa-miR-1228	CLIP-seq
MIRT1323168	hsa-miR-1915	CLIP-seq
MIRT1323169	hsa-miR-1972	CLIP-seq
MIRT1323170	hsa-miR-2277-3p	CLIP-seq
MIRT1323171	hsa-miR-3144-5p	CLIP-seq
MIRT2616235	hsa-miR-3150a-3p	CLIP-seq
MIRT1323172	hsa-miR-3158-5p	CLIP-seq
MIRT1323173	hsa-miR-3166	CLIP-seq
MIRT2616236	hsa-miR-3175	CLIP-seq
MIRT1323174	hsa-miR-3191	CLIP-seq
MIRT1323176	hsa-miR-3652	CLIP-seq
MIRT1323178	hsa-miR-4269	CLIP-seq
MIRT2616237	hsa-miR-4294	CLIP-seq
MIRT1323179	hsa-miR-4323	CLIP-seq
MIRT1323180	hsa-miR-4430	CLIP-seq
MIRT1323181	hsa-miR-4438	CLIP-seq
MIRT1323182	hsa-miR-4481	CLIP-seq
MIRT1323184	hsa-miR-4645-5p	CLIP-seq
MIRT1323185	hsa-miR-4652-5p	CLIP-seq
MIRT2616238	hsa-miR-4667-5p	CLIP-seq
MIRT1323186	hsa-miR-4673	CLIP-seq
MIRT1323187	hsa-miR-4688	CLIP-seq
MIRT2616239	hsa-miR-4700-5p	CLIP-seq
MIRT1323188	hsa-miR-4745-5p	CLIP-seq
MIRT1323189	hsa-miR-4755-3p	CLIP-seq
MIRT1323190	hsa-miR-4758-5p	CLIP-seq
MIRT1323191	hsa-miR-4771	CLIP-seq
MIRT1323192	hsa-miR-491-5p	CLIP-seq
MIRT2616240	hsa-miR-550b	CLIP-seq
MIRT1323193	hsa-miR-711	CLIP-seq
MIRT2616241	hsa-miR-939	CLIP-seq

Show/Hide all(92)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000492	Process	Box C/D snoRNP assembly	IBA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	ISO
GO:0000786	Component	Nucleosome	IDA	27153538
GO:0000786	Component	Nucleosome	IEA
GO:0000786	Component	Nucleosome	NAS	16634648
GO:0000812	Component	Swr1 complex	IBA
GO:0000812	Component	Swr1 complex	IDA	24463511
GO:0001094	Function	TFIID-class transcription factor complex binding	IEA
GO:0003678	Function	DNA helicase activity	IBA
GO:0003678	Function	DNA helicase activity	IDA	9843967
GO:0003713	Function	Transcription coactivator activity	IDA	11080158
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	10966108, 11080158, 15647280, 16230350, 17636026, 17761535, 18026119, 18087039, 18358808, 19179534, 19299493, 20211142, 20371770, 20864032, 23824326, 25416956, 25857266, 26711270, 27705803, 28514442, 29323271, 29892012, 29959317, 32296183, 33205750, 33367824, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	9843967, 18026119
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006275	Process	Regulation of DNA replication	IEA
GO:0006275	Process	Regulation of DNA replication	IMP	25016522
GO:0006281	Process	DNA repair	IEA
GO:0006282	Process	Regulation of DNA repair	IEA
GO:0006282	Process	Regulation of DNA repair	ISO
GO:0006310	Process	DNA recombination	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IDA	21303910
GO:0006338	Process	Chromatin remodeling	NAS	16634648
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	16634648
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9813143
GO:0006974	Process	DNA damage response	IEA
GO:0007283	Process	Spermatogenesis	TAS	9588198
GO:0008094	Function	ATP-dependent activity, acting on DNA	IEA
GO:0016020	Component	Membrane	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	10966108, 33367824
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	33205750
GO:0017025	Function	TBP-class protein binding	IDA	11080158
GO:0017025	Function	TBP-class protein binding	IEA
GO:0031011	Component	Ino80 complex	IBA
GO:0031011	Component	Ino80 complex	IDA	18026119, 21303910
GO:0033044	Process	Regulation of chromosome organization	IMP	26340092
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0035267	Component	NuA4 histone acetyltransferase complex	IDA	10966108, 14966270, 27153538
GO:0035267	Component	NuA4 histone acetyltransferase complex	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042981	Process	Regulation of apoptotic process	NAS	14966270
GO:0043531	Function	ADP binding	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045739	Process	Positive regulation of DNA repair	IEA
GO:0045739	Process	Positive regulation of DNA repair	ISO
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	27641337
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	27153538
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISO
GO:0050821	Process	Protein stabilization	NAS	29662061, 29844425, 31738558
GO:0051117	Function	ATPase binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	26340092, 27153538
GO:0060382	Process	Regulation of DNA strand elongation	IEA
GO:0060382	Process	Regulation of DNA strand elongation	IMP	25016522
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0071339	Component	MLL1 complex	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IDA	11080158
GO:0090671	Process	Telomerase RNA localization to Cajal body	HMP	25467444
GO:0097255	Component	R2TP complex	IBA
GO:0097255	Component	R2TP complex	IDA	26711270, 33367824
GO:0097255	Component	R2TP complex	IPI	29662061
GO:0101031	Component	Protein folding chaperone complex	IEA
GO:0101031	Component	Protein folding chaperone complex	IPI	29844425
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS
GO:1904507	Process	Positive regulation of telomere maintenance in response to DNA damage	IEA
GO:1904507	Process	Positive regulation of telomere maintenance in response to DNA damage	ISO
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27153538
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IEA
GO:1990062	Component	RPAP3/R2TP/prefoldin-like complex	IEA
GO:1990062	Component	RPAP3/R2TP/prefoldin-like complex	IPI	31738558
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:2000779	Process	Regulation of double-strand break repair	NAS	14966270

MIM	HGNC	e!Ensembl
603449	10474	ENSG00000175792

Protein

UniProt ID

Q9Y265

Protein name

RuvB-like 1 (EC 3.6.4.12) (49 kDa TATA box-binding protein-interacting protein) (49 kDa TBP-interacting protein) (54 kDa erythrocyte cytosolic protein) (ECP-54) (INO80 complex subunit H) (Nuclear matrix protein 238) (NMP 238) (Pontin 52) (TIP49a) (TIP60-a

Protein function

Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (3' to 5') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity (P

PDB

2C9O , 2XSZ , 5OAF , 6FO1 , 6HTS , 6IGM , 6K0R , 6QI8 , 6QI9 , 7AHO , 7OLE , 7P6X , 7ZI4 , 8QR1 , 8X15 , 8X19 , 8X1C , 8XVG , 8XVT , 9C57 , 9C62 , 9EMA , 9EMC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06068	TIP49	14 → 369	TIP49 P-loop domain	Domain
PF17856	TIP49_C	374 → 439	TIP49 AAA-lid domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed with high expression in heart, skeletal muscle and testis.

Sequence

MKIEEVKSTTKTQRIASHSHVKGLGLDESGLAKQAASGLVGQENAREACGVIVELIKSKK
MAGRAVLLAGPPGTGKTALALAIAQELGSKVPFCPMVGSEVYSTEIKKTEVLMENFRRAI
GLRIKETKEVYEGEVTELTPCETENPMGGYGKTISHVIIGLKTAKGTKQLKLDPSIFESL
QKERVEAGDVIYIEANSGAVKRQGRCDTYATEFDLEAEEYVPLPKGDVHKKKEIIQDVTL
HDLDVANARPQGGQDILSMMGQLMKPKKTEITDKLRGEINKVVNKYIDQGIAELVPGVLF
VDEVHMLDIECFTYLHRALESSIAPIVIFASNRGNCVIRGTEDITSPHGIPLDLLDRVMI
IRTMLYTPQEMKQIIKIRAQTEGINISEEALNHLGEIGTKTTLRYSVQLLTPANLLAKIN
GKDSIEKEHVEEISELFYDAKSSAKILADQQDKYMK

Sequence length

456

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Wnt signaling pathway		Telomere Extension By Telomerase Formation of the beta-catenin:TCF transactivating complex UCH proteinases Ub-specific processing proteases DNA Damage Recognition in GG-NER Deposition of new CENPA-containing nucleosomes at the centromere

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Age of onset of adult onset asthma	N/A	N/A	GWAS
Pelvic Organ Prolapse	Pelvic organ prolapse	N/A	N/A	GWAS
Prostate cancer	Prostate cancer, Prostate cancer (late onset)	N/A	N/A	GWAS

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37349884
Breast Neoplasms	Associate	33233699
Carcinogenesis	Associate	25751257, 33542204
Carcinoma Hepatocellular	Associate	19877184, 37923899
Carcinoma Non Small Cell Lung	Stimulate	31883965
Carcinoma Ovarian Epithelial	Associate	20635389
Carcinoma Pancreatic Ductal	Associate	36271761
Carcinoma Renal Cell	Stimulate	25751257
Carcinoma Renal Cell	Associate	33850477
Cholangiocarcinoma	Stimulate	29862278
Colorectal Neoplasms	Associate	14675489, 27566657, 35876654, 37439412
Esophageal Squamous Cell Carcinoma	Associate	34365093
Glioma	Stimulate	33542204
Glioma	Associate	36153326
Kidney Neoplasms	Associate	25751257
Klatskin Tumor	Associate	29862278
Leukemia	Associate	9774387
Lung Neoplasms	Associate	31883965
Lymphatic Metastasis	Stimulate	29862278
Lymphoma	Stimulate	12716467
Lymphoma Large B Cell Diffuse	Associate	12716467
Mouth Neoplasms	Associate	36052378
Neoplasm Invasiveness	Associate	29862278
Neoplasm Metastasis	Associate	25751257, 35493294
Neoplasms	Associate	12716467, 26988609, 28443573, 29862278, 31883965, 36052378, 37075745, 37439412, 37923899, 39201707, 39217152, 39874873, 9774387
Neoplasms Squamous Cell	Stimulate	24396308
Prostatic Neoplasms	Associate	18087039
Sarcoma Ewing	Associate	37075745
Squamous Cell Carcinoma of Head and Neck	Associate	35493294, 36052378
Urinary Bladder Neoplasms	Associate	26988609
Uveal melanoma	Associate	37362244

RUVBL1 (RuvB like AAA ATPase 1)