RAD50

Description		RAD50 double strand break repair protein
Image
GO Annotations	Cellular Component	Chromosome, Telomeric Region Condensed Nuclear Chromosome Nucleus Nucleoplasm Chromosome Membrane Mre11 Complex Site Of Double-strand Break BRCA1-C Complex Chromosomal Region
	Molecular Function	Single-stranded DNA Endodeoxyribonuclease Activity Nucleotide Binding DNA Binding DNA Helicase Activity Double-stranded Telomeric DNA Binding Protein Binding ATP Binding 3'-5' Exonuclease Activity Hydrolase Activity ATP Hydrolysis Activity Protein-macromolecule Adaptor Activity Identical Protein Binding Single-stranded Telomeric DNA Binding Protein Serine/threonine Kinase Activator Activity Metal Ion Binding G-quadruplex DNA Binding
	Biological Process	Regulation Of Mitotic Recombination Telomere Maintenance Via Recombination Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Double-strand Break Processing DNA Repair Double-strand Break Repair DNA Recombination DNA Damage Response Telomere Maintenance Via Telomerase Reciprocal Meiotic Recombination Telomeric 3' Overhang Formation Positive Regulation Of Telomere Maintenance Homologous Recombination Mitotic G2/M Transition Checkpoint Chromosome Organization Meiotic Cell Cycle R-loop Processing Chromosome Organization Involved In Meiotic Cell Cycle DNA Strand Resection Involved In Replication Fork Processing Negative Regulation Of Telomere Capping Positive Regulation Of Double-strand Break Repair
Pathways		DNA Damage/Telomere Stress Induced Senescence HDR through Single Strand Annealing (SSA) HDR through MMEJ (alt-NHEJ) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Meiotic recombination Defective homologous recombination repair (HRR) due to BRCA1 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2
Drugs
Diseases		DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
GWAS		Allergic disease (asthma, hay fever or eczema) ( 29083406) Allergic rhinitis ( 30013184) Asthma ( 20159242 31959851 31619474 30929738 29273806 27611488 27182965) Asthma (childhood onset) ( 30929738 24241537 29273806) Asthma (moderate or severe) ( 30552067) Asthma onset (childhood vs adult) ( 30929738) Asthma or allergic disease (pleiotropy) ( 29785011) Atopic dermatitis ( 26482879 23886662 25574825 25865352) Eosinophil count ( 29403010 32888494 27863252) Eosinophil percentage of granulocytes ( 27863252) Eosinophil percentage of white cells ( 32888494 27863252) Eosinophilic esophagitis ( 34506852) IgE levels ( 18846228) Inflammatory skin disease ( 25574825) Itch intensity from mosquito bite ( 28199695) Neutrophil percentage of white cells ( 32888494 27863252) Polycystic ovary syndrome ( 26416764 30566500) Rosacea symptom severity ( 29771307) Sum eosinophil basophil counts ( 27863252) Venous thromboembolism adjusted for sickle cell variant rs77121243-T ( 28203683)
Interacting Genes		15 interacting genes: ATM CEBPA CREBBP DCLRE1C EP300 MDC1 MRE11 NABP2 NBN RECQL5 RINT1 SUMO2 TERF2IP TP53BP1 USP7
Entrez ID		10111
HPRD ID		04950
Ensembl ID		ENSG00000113522
Uniprot IDs		A5D6Y3 Q92878
PDB IDs		5GOX
Enriched GO Terms of Interacting Partners?		DNA Damage Response Cellular Response To Stress Regulation Of DNA Recombination Regulation Of Double-strand Break Repair Regulation Of Double-strand Break Repair Via Homologous Recombination Regulation Of DNA Metabolic Process DNA Metabolic Process DNA Repair Double-strand Break Repair Regulation Of DNA Repair Positive Regulation Of DNA Metabolic Process Nucleic Acid Metabolic Process Regulation Of Cellular Response To Stress Negative Regulation Of Cell Cycle Site Of Double-strand Break DNA Damage Checkpoint Signaling Protein Localization To Chromosome Regulation Of Telomere Maintenance Negative Regulation Of Cell Cycle Phase Transition Regulation Of Telomere Capping DNA Strand Resection Involved In Replication Fork Processing Intracellular Signal Transduction DNA Recombination Response To Stress Mitotic G2/M Transition Checkpoint Chromosome Negative Regulation Of DNA Metabolic Process Double-strand Break Repair Via Homologous Recombination Double-strand Break Repair Via Nonhomologous End Joining Nucleobase-containing Compound Metabolic Process Recombinational Repair Negative Regulation Of Cell Cycle Process Signal Transduction In Response To DNA Damage Damaged DNA Binding Mitotic DNA Damage Checkpoint Signaling Negative Regulation Of G2/M Transition Of Mitotic Cell Cycle Negative Regulation Of Cell Cycle G2/M Phase Transition Mitotic DNA Integrity Checkpoint Signaling Positive Regulation Of Telomere Maintenance Positive Regulation Of DNA Recombination Chromosome, Telomeric Region Protein Localization To Site Of Double-strand Break Replication Fork Nucleoplasm Negative Regulation Of Mitotic Cell Cycle Positive Regulation Of Double-strand Break Repair Telomere Maintenance Mitotic G2 DNA Damage Checkpoint Signaling Positive Regulation Of Chromosome Organization Regulation Of G2/M Transition Of Mitotic Cell Cycle
Tagcloud ?