NBN and H2AX

Data Source:
HPRD (in vitro, in vivo)

		NBN	H2AX
Description		nibrin	H2A.X variant histone
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	Chromosome, Telomeric Region Nucleosome Condensed Nuclear Chromosome Male Germ Cell Nucleus XY Body Nucleus Nucleoplasm Replication Fork Centrosome Nuclear Speck Site Of Double-strand Break Extracellular Exosome Site Of DNA Damage
	Molecular Function	Damaged DNA Binding Protein Binding Transcription Factor Binding Protein N-terminus Binding	DNA Binding Damaged DNA Binding Protein Binding Enzyme Binding Histone Binding Protein Heterodimerization Activity
	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	DNA Damage Checkpoint Double-strand Break Repair Via Homologous Recombination Double-strand Break Repair Double-strand Break Repair Via Nonhomologous End Joining Nucleosome Assembly Chromatin Silencing Cellular Response To DNA Damage Stimulus Spermatogenesis Response To Ionizing Radiation Viral Process Cerebral Cortex Development Positive Regulation Of DNA Repair Meiotic Cell Cycle Cellular Response To Gamma Radiation Cellular Senescence
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	Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Pre-NOTCH Transcription and Translation Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex PRC2 methylates histones and DNA Condensation of Prophase Chromosomes Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) DNA Damage/Telomere Stress Induced Senescence RMTs methylate histone arginines SIRT1 negatively regulates rRNA expression ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression NoRC negatively regulates rRNA expression NoRC negatively regulates rRNA expression B-WICH complex positively regulates rRNA expression DNA methylation Transcriptional regulation by small RNAs Activation of anterior HOX genes in hindbrain development during early embryogenesis Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 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 Deposition of new CENPA-containing nucleosomes at the centromere G2/M DNA damage checkpoint RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Meiotic recombination Transcriptional regulation of granulopoiesis Inhibition of DNA recombination at telomere Amyloid fiber formation
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)
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	46 interacting genes: A2M ACTB ALG9 ATM ATR BARD1 BMI1 BRCA1 BRCA2 BRD1 CALM1 COPG1 DDX21 DHX9 EYA1 HUWE1 KAT5 MASP1 MDC1 MRE11 NBN NCL NGFR OTUB1 PAXIP1 PBK PPP1CA PRKDC PTPA QARS1 RNF168 RNF8 RPS6KA3 SMARCA4 SSRP1 SUPT16H SUPT5H TAF1C TAF5L TERF2 TIAM2 TOPORS TP53BP1 TRAF6 TSSK6 WRN
Entrez ID		4683	3014
HPRD ID		04050	03465
Ensembl ID		ENSG00000104320	ENSG00000188486
Uniprot IDs		A0A0C4DG07 O60934	P16104
PDB IDs		5WQD	1YDP 2AZM 2D31 2DYP 3SHV 3SQD 3SZM 3U3Z 6K1I 6K1J 6K1K
Enriched GO Terms of Interacting Partners?
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