RECQL4

Description		RecQ like helicase 4
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GO Annotations	Cellular Component	Chromosome, Telomeric Region Nucleus Nucleoplasm Chromosome Cytoplasm Membrane
	Molecular Function	Nucleotide Binding Bubble DNA Binding Nucleic Acid Binding DNA Binding Helicase Activity Protein Binding ATP Binding Four-way Junction Helicase Activity Hydrolase Activity Isomerase Activity ATP Hydrolysis Activity Oxidized Purine DNA Binding 3'-5' DNA Helicase Activity Metal Ion Binding Telomeric D-loop Binding Catalytic Activity, Acting On DNA DNA/DNA Annealing Activity
	Biological Process	Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Replication DNA Repair DNA Recombination Chromosome Organization Telomeric D-loop Disassembly
Pathways
Drugs
Diseases		RAPADILINO syndrome Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome
GWAS		Age at first birth ( 27798627) Educational attainment ( 25201988) General cognitive ability ( 29844566)
Novel Interacting Genes		1 novel interacting genes: FOXH1
Interacting Genes		11 interacting genes: ACD EP300 MARCHF5 MCM10 POT1 PRSS23 RNF8 TERF1 TERF2IP TOMM20 WRAP53
Entrez ID		9401
HPRD ID		04805
Ensembl ID		ENSG00000160957
Uniprot IDs		A0A087X072 O94761
PDB IDs		2KMU 5LST
Enriched GO Terms of Interacting Partners?		Telomere Maintenance Via Telomerase Shelterin Complex RNA-templated DNA Biosynthetic Process Telomere Maintenance Via Telomere Lengthening Nuclear Telomere Cap Complex Telomere Capping Positive Regulation Of Telomere Maintenance Chromosome, Telomeric Region Telomere Assembly DNA Biosynthetic Process Telomeric DNA Binding Telomere Maintenance Regulation Of Establishment Of Protein Localization To Telomere Positive Regulation Of Chromosome Organization Regulation Of Telomere Maintenance Regulation Of Establishment Of Protein Localization To Chromosome Negative Regulation Of Telomere Maintenance Positive Regulation Of DNA Metabolic Process Telomere Organization Regulation Of Telomere Maintenance Via Telomerase G-rich Strand Telomeric DNA Binding Regulation Of Telomere Maintenance Via Telomere Lengthening Protein Localization To Organelle Chromosome DNA Metabolic Process Negative Regulation Of Chromosome Organization Regulation Of DNA Biosynthetic Process Negative Regulation Of Telomere Maintenance Via Telomerase Regulation Of Chromosome Organization Regulation Of DNA Metabolic Process Positive Regulation Of Organelle Organization Protein Localization To Chromosome Negative Regulation Of Telomere Maintenance Via Telomere Lengthening Negative Regulation Of DNA Biosynthetic Process Negative Regulation Of DNA Metabolic Process Chromosome Organization Regulation Of Double-strand Break Repair Positive Regulation Of Cellular Component Organization Regulation Of Organelle Organization DNA Damage Response Telomerase Inhibitor Activity Establishment Of Protein Localization To Telomere Protection From Non-homologous End Joining At Telomere Positive Regulation Of Nucleobase-containing Compound Metabolic Process Nucleic Acid Metabolic Process Nucleobase-containing Compound Biosynthetic Process Regulation Of DNA Repair Telomeric D-loop Disassembly Regulation Of Cellular Response To Stress Negative Regulation Of Nucleobase-containing Compound Metabolic Process
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