RTEL1

Description		regulator of telomere elongation helicase 1
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GO Annotations	Cellular Component	Chromosome, Telomeric Region Nucleus Nucleoplasm Nuclear Speck Nuclear Membrane
	Molecular Function	Nucleotide Binding Nucleic Acid Binding DNA Binding DNA Helicase Activity Helicase Activity Protein Binding ATP Binding Hydrolase Activity Hydrolase Activity, Acting On Acid Anhydrides, In Phosphorus-containing Anhydrides Isomerase Activity ATP Hydrolysis Activity Metal Ion Binding Iron-sulfur Cluster Binding 4 Iron, 4 Sulfur Cluster Binding DNA Polymerase Binding
	Biological Process	Regulation Of DNA Recombination Telomere Maintenance DNA Strand Displacement Nucleobase-containing Compound Metabolic Process DNA Replication DNA Repair DNA Recombination DNA Damage Response Regulation Of Double-strand Break Repair Via Homologous Recombination Replication Fork Processing Positive Regulation Of Telomere Maintenance Telomere Maintenance In Response To DNA Damage Negative Regulation Of DNA Recombination Regulation Of Cellular Response To Stress Telomeric Loop Disassembly Mitotic Telomere Maintenance Via Semi-conservative Replication Positive Regulation Of Telomere Capping Positive Regulation Of Telomere Maintenance Via Telomere Lengthening Negative Regulation Of T-circle Formation Negative Regulation Of Telomere Maintenance In Response To DNA Damage Positive Regulation Of Telomeric Loop Disassembly
Pathways		Telomere Extension By Telomerase Cytosolic iron-sulfur cluster assembly Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Drugs
Diseases
GWAS		Adult diffuse glioma (IDH wildtype) ( 32386320) Adult diffuse glioma (TERT mutation only) ( 32386320) Allergic disease (asthma, hay fever or eczema) ( 29785011 29083406) Anorectal malformation ( 31136621) Asthma ( 32296059 31619474 31361310 30929738) Asthma or allergic disease (pleiotropy) ( 29785011) Atopic dermatitis ( 26482879) Crohn's disease ( 21102463 28067908) Cutaneous malignant melanoma ( 26237428 32341527) Dental caries ( 23259602) Eczema ( 31361310) Glioblastoma ( 28346443 29743610) Glioblastoma (age-stratified) ( 30152087) Glioma ( 19578367 28346443 21531791 29743610 30714141 22886559) Glioma (high-grade) ( 19578366 24908248) Idiopathic pulmonary fibrosis ( 31710517) Inflammatory bowel disease ( 28067908) Leukocyte telomere length ( 31171785 32109421) Mean corpuscular hemoglobin ( 32888494) Mean corpuscular volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Metabolite levels ( 23823483) Nevus count or cutaneous melanoma ( 32341527) Non-glioblastoma glioma ( 29743610 28346443) Plateletcrit ( 27863252 32888494) Prostate cancer ( 23535732) Refractive error ( 32231278) Telomere length ( 29151059) Ulcerative colitis ( 28067908 21297633)
Novel Interacting Genes		1 novel interacting genes: RAE1
Interacting Genes
Entrez ID		51750
HPRD ID		15281
Ensembl ID		ENSG00000258366
Uniprot IDs		Q9NZ71 R4IXY3
PDB IDs		7WU8 8P8H 8YA8
Enriched GO Terms of Interacting Partners?		Transcription-dependent Tethering Of RNA Polymerase II Gene DNA At Nuclear Periphery Fibrillar Center Ubiquitin Binding RNA Export From Nucleus MRNA Export From Nucleus RNA Transport Regulation Of Microtubule Cytoskeleton Organization MRNA Transport Regulation Of Mitotic Spindle Organization Nuclear Export Mitotic Spindle Pole Spindle Pole Nuclear Pore Regulation Of Microtubule-based Process Nuclear Transport Nucleocytoplasmic Transport Microtubule Binding Nucleobase-containing Compound Transport Nuclear Envelope Chromosome Organization
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