NBN and MDC1

Data Source:
HPRD (in vitro)

		NBN	MDC1
Description		nibrin	mediator of DNA damage checkpoint 1
Image
GO Annotations	Cellular Component	Chromosome, Telomeric Region Nucleus Nucleoplasm Replication Fork Nucleolus Cytosol PML Body Mre11 Complex Site Of Double-strand Break Nuclear Inclusion Body	Nucleus Nucleoplasm Chromosome Focal Adhesion Nuclear Body
	Molecular Function	Damaged DNA Binding Protein Binding Transcription Factor Binding Protein N-terminus Binding	Protein Binding Protein C-terminus Binding Identical Protein Binding FHA Domain Binding
	Biological Process	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	Double-strand Break Repair Via Nonhomologous End Joining Intra-S DNA Damage Checkpoint
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	SUMOylation of DNA damage response and repair proteins Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends TP53 Regulates Transcription of DNA Repair Genes G2/M DNA damage checkpoint
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		Lymphocyte counts ( 32888494) Lymphocyte percentage of white cells ( 32888494) Monocyte count ( 32888494)	Autism spectrum disorder or schizophrenia ( 28540026) Blood protein levels ( 28240269) Eosinophil counts ( 31272903)
Interacting Genes		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	40 interacting genes: ANAPC1 ATM BARD1 BDKRB1 BRCA1 CASP3 CENPC CHEK2 COPS5 CREBBP CSNK2A1 DTX2 EP300 GATA4 H2AX HDAC10 HDAC8 HINFP NBN NCL NSD2 PIAS1 PIAS4 PRIM1 RAD50 RAD51 RNF8 SMC1A SRPK2 SUMO2 TNKS2 TP53 TP53BP1 UIMC1 USP13 USP15 USP28 VAMP5 WRN ZNF251
Entrez ID		4683	9656
HPRD ID		04050	16252
Ensembl ID		ENSG00000104320	ENSG00000137337
Uniprot IDs		A0A0C4DG07 O60934	A0A1U9XBC1 A1Z5I9 Q14676
PDB IDs		5WQD	2ADO 2AZM 2ETX 3K05 3UEO 3UMZ 3UN0 3UNM 3UNN 3UOT
Enriched GO Terms of Interacting Partners?
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