Gene Gene information from NCBI Gene database.
Entrez ID 8607
Gene name RuvB like AAA ATPase 1
Gene symbol RUVBL1
Synonyms (NCBI Gene)
ECP-54ECP54INO80HNMP 238NMP238PONTINPontin52RVB1TIH1TIP49TIP49A
Chromosome 3
Chromosome location 3q21.3
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 transcription
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603449 10474 ENSG00000175792
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 456
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29545175
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 30864699
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 26988609
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28341484
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33233699 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 25751257, 33542204 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 19877184, 37923899 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 26988609
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 29545175
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 20635389 Associate
★☆☆☆☆
Found in Text Mining only