RAD50 and NBN

Data Source:
HPRD (in vivo, in vitro, two hybrid)

		RAD50	NBN
Description		RAD50 double strand break repair protein	nibrin
Image
GO Annotations	Cellular Component	Chromosome, Telomeric Region Condensed Nuclear Chromosome Nucleoplasm Membrane Mre11 Complex Site Of Double-strand Break	Chromosome, Telomeric Region Nucleus Nucleoplasm Replication Fork Nucleolus Cytosol PML Body Mre11 Complex Site Of Double-strand Break Nuclear Inclusion Body
	Molecular Function	Single-stranded DNA Endodeoxyribonuclease Activity DNA Binding DNA Helicase Activity Double-stranded Telomeric DNA Binding Protein Binding ATP Binding 3'-5' Exonuclease Activity Protein-macromolecule Adaptor Activity Identical Protein Binding Single-stranded Telomeric DNA Binding Metal Ion Binding G-quadruplex DNA Binding	Damaged DNA Binding Protein Binding Transcription Factor Binding Protein N-terminus 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 Replication DNA Repair Double-strand Break Repair Double-strand Break Repair Via Nonhomologous End Joining DNA Recombination Cellular Response To DNA Damage Stimulus Telomere Maintenance Via Telomerase Reciprocal Meiotic Recombination Viral Process Telomeric 3' Overhang Formation Positive Regulation Of Protein Autophosphorylation Positive Regulation Of Telomere Maintenance DNA Duplex Unwinding Positive Regulation Of Kinase Activity Nucleoside Monophosphate Phosphorylation Chromosome Organization Involved In Meiotic Cell Cycle Nucleic Acid Phosphodiester Bond Hydrolysis Regulation Of Signal Transduction By P53 Class Mediator Negative Regulation Of Telomere Capping	DNA Damage Checkpoint Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Double-strand Break Processing Blastocyst Growth DNA Replication Double-strand Break Repair Double-strand Break Repair Via Nonhomologous End Joining Cell Cycle Arrest Mitotic G2 DNA Damage Checkpoint Cell Population Proliferation Viral Process Regulation Of DNA-dependent DNA Replication Initiation DNA Damage Response, Signal Transduction By P53 Class Mediator Telomeric 3' Overhang Formation Positive Regulation Of Protein Autophosphorylation Positive Regulation Of Telomere Maintenance DNA Duplex Unwinding Positive Regulation Of Kinase Activity Signal Transduction In Response To DNA Damage Isotype Switching Neuromuscular Process Controlling Balance Meiotic Cell Cycle T-circle Formation Telomere Maintenance Via Telomere Trimming Intrinsic Apoptotic Signaling Pathway Regulation Of Signal Transduction By P53 Class Mediator Negative Regulation Of Telomere Capping
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	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
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	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 30929738 27611488 27182965 31619474 29273806) 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 ( 23886662 25865352 25574825 26482879) Eosinophil counts ( 29403010 32888494 27863252) Eosinophil percentage of granulocytes ( 27863252) Eosinophil percentage of white cells ( 32888494 27863252) IgE levels ( 18846228) Inflammatory skin disease ( 25574825) Itch intensity from mosquito bite ( 28199695) Neutrophil percentage of white cells ( 32888494 27863252) Polycystic ovary syndrome ( 30566500 26416764) Rosacea symptom severity ( 29771307) Sum eosinophil basophil counts ( 27863252) Venous thromboembolism adjusted for sickle cell variant rs77121243-T ( 28203683)	Lymphocyte counts ( 32888494) Lymphocyte percentage of white cells ( 32888494) Monocyte count ( 32888494)
Interacting Genes		10 interacting genes: DCLRE1C EP300 MDC1 MRE11 NBN RECQL5 RINT1 SUMO2 TERF2IP TP53BP1	35 interacting genes: ATF2 ATM ATR BAP1 BRCA1 CASC3 CCNE1 CDK9 CHEK2 DCLRE1C EP300 FANCD2 H2AX H3-4 HIF1A MDC1 MRE11 NAT2 NCL PRKDC RAD18 RAD50 RAD51 RECQL5 SIRT1 SNAI1 SUMO2 TERF1 TLK1 TREX1 UBE2D1 UBE2N VRK1 XRCC4 XRCC5
Entrez ID		10111	4683
HPRD ID		04950	04050
Ensembl ID		ENSG00000113522	ENSG00000104320
Uniprot IDs		A5D6Y3 Q92878	A0A0C4DG07 O60934
PDB IDs		5GOX	5WQD
Enriched GO Terms of Interacting Partners?
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