RUVBL1 and DKC1

Number of citations: 45 (PubMedID 18358808)
Data Source: HPRD (in vivo)

		RUVBL1	DKC1
Name		RuvB like AAA ATPase 1	dyskerin pseudouridine synthase 1
Structure
GO Annotations	Cellular Component	Nucleosome Swr1 Complex Nucleus Nucleoplasm Cytoplasm Centrosome Cytosol Cytoskeleton Membrane Nuclear Matrix Nuclear Speck Ino80 Complex NuA4 Histone Acetyltransferase Complex Ciliary Basal Body Extracellular Exosome MLL1 Complex R2TP Complex Protein Folding Chaperone Complex Dynein Axonemal Particle RPAP3/R2TP/prefoldin-like Complex Ribonucleoprotein Complex	Fibrillar Center Nucleus Nucleoplasm Telomerase Holoenzyme Complex Nucleolus Cytoplasm Cajal Body Box H/ACA SnoRNP Complex Box H/ACA ScaRNP Complex Box H/ACA Telomerase RNP Complex Ribonucleoprotein Complex
	Molecular Function	Nucleotide Binding TFIID-class Transcription Factor Complex Binding DNA Helicase Activity Transcription Coactivator Activity Helicase Activity Protein Binding ATP Binding ATP-dependent Activity, Acting On DNA Hydrolase Activity ATP Hydrolysis Activity TBP-class Protein Binding ADP Binding Cadherin Binding ATPase Binding	Telomerase Activity RNA Binding Protein Binding Pseudouridine Synthase Activity Isomerase Activity Box H/ACA SnoRNA Binding Telomerase RNA Binding
	Biological Process	Box C/D SnoRNP Assembly Telomere Maintenance Regulation Of DNA Replication DNA Repair Regulation Of DNA Repair DNA Recombination Chromatin Organization Chromatin Remodeling Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II DNA Damage Response Spermatogenesis Regulation Of Chromosome Organization Regulation Of Apoptotic Process Positive Regulation Of DNA Repair Positive Regulation Of DNA-templated Transcription Regulation Of Embryonic Development Protein Stabilization Cell Division Regulation Of Cell Cycle Regulation Of DNA Strand Elongation Positive Regulation Of Canonical Wnt Signaling Pathway Telomerase RNA Localization To Cajal Body Positive Regulation Of Telomere Maintenance In Response To DNA Damage Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Regulation Of Double-strand Break Repair	Enzyme-directed RRNA Pseudouridine Synthesis Box H/ACA Sno(s)RNA 3'-end Processing Pseudouridine Synthesis RRNA Processing RNA Processing Telomere Maintenance Via Telomerase RNA Modification RRNA Pseudouridine Synthesis SnRNA Pseudouridine Synthesis Positive Regulation Of Telomere Maintenance Via Telomerase Box H/ACA Sno(s)RNA Metabolic Process Ribosome Biogenesis ScaRNA Localization To Cajal Body Telomerase RNA Stabilization Protein Localization To Cajal Body Regulation Of Telomerase RNA Localization To Cajal Body Positive Regulation Of Telomerase RNA Localization To Cajal Body Telomerase Holoenzyme Complex Assembly MRNA Pseudouridine Synthesis
Pathways		Telomere Extension By Telomerase Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex HATs acetylate histones UCH proteinases Ub-specific processing proteases DNA Damage Recognition in GG-NER Deposition of new CENPA-containing nucleosomes at the centromere	Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
Diseases		None	Hoyeraal-Hreidarsson syndrome Dyskeratosis congenita (DC), including: X-linked dyskeratosis congenita (DKCX); Autosomal dominant dyskeratosis congenita (DKCA1); Autosomal recessive dyskeratosis congenita (DKCB1)
GWAS		Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) ( 30940143 ) Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) ( 30940143 ) Endometrial cancer ( 30093612 ) Endometrial cancer (endometrioid histology) ( 30093612 ) Gestational age at birth (maternal effect) ( 28877031 ) Post bronchodilator FEV1 ( 26634245 ) Post bronchodilator FEV1/FVC ratio ( 26634245 )	No GWAS studies recorded
Interacting Genes		20 interacting genes: ACTL6A CEP126 CTNNB1 DKC1 FBL FOXP1 LZTR1 MRGBP NEDD4 OFD1 OGT PCBP3 PLG RUVBL2 STOM SUMO2 TAF9 TBP TERT TK1	10 interacting genes: CSNK2A1 DAXX EEF1G EIF3F ERG LYPLA2 MAPK6 RUVBL1 SSR1 TERC
Entrez ID		8607	1736
HPRD ID		09143	02129
Ensembl ID		ENSG00000175792	ENSG00000130826
Uniprot IDs		A0A384MTR5 B3KRS7 E7ETR0 Q9Y265	A0A8Q3SIY6 O60832
PDB IDs		2C9O 2XSZ 5OAF 6FO1 6HTS 6IGM 6K0R 6QI8 6QI9 7AHO 7OLE 7P6X 7ZI4 8QR1 8X15 8X19 8X1C 8XVG 8XVT 9C57 9C62 9EMA 9EMC	7BGB 7TRC 7V9A 8OUE 8OUF
GO Terms Enriched among Interactors		Positive Regulation Of Telomere Maintenance NuA4 Histone Acetyltransferase Complex Nucleic Acid Metabolic Process Nucleobase-containing Compound Biosynthetic Process Telomere Maintenance Positive Regulation Of Chromosome Organization Regulation Of Telomere Maintenance RNA Localization Regulation Of DNA Metabolic Process Regulation Of RNA Metabolic Process Positive Regulation Of DNA Metabolic Process Telomere Organization Negative Regulation Of Signal Transduction Macromolecule Biosynthetic Process Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Macromolecule Metabolic Process Negative Regulation Of Signaling Negative Regulation Of Cell Communication Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Nucleobase-containing Compound Metabolic Process Telomerase Activity Positive Regulation Of Macromolecule Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of DNA-templated Transcription Nucleobase-containing Compound Metabolic Process Regulation Of RNA Biosynthetic Process Positive Regulation Of Macromolecule Biosynthetic Process Euchromatin Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Positive Regulation Of Biosynthetic Process TFIID-class Transcription Factor Complex Binding Box C/D SnoRNP Assembly Ribonucleoprotein Complex Nucleoplasm Positive Regulation Of RNA Metabolic Process Positive Regulation Of DNA Recombination RNA Metabolic Process Positive Regulation Of Metabolic Process Nucleus Positive Regulation Of Telomere Maintenance In Response To DNA Damage Regulation Of Double-strand Break Repair Via Homologous Recombination Regulation Of Embryonic Development ATPase Binding Ino80 Complex Regulation Of DNA Repair Regulation Of Programmed Cell Death DNA Biosynthetic Process Regulation Of DNA Strand Elongation Regulation Of Chromosome Organization	None