BRCA1 and NBN

Data Source:
HPRD (in vivo, in vitro)

		BRCA1	NBN
Description		BRCA1 DNA repair associated	nibrin
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GO Annotations	Cellular Component	Ubiquitin Ligase Complex Lateral Element Nucleus Nucleoplasm Chromosome Cytoplasm Plasma Membrane Gamma-tubulin Ring Complex Nuclear Body BRCA1-BARD1 Complex Protein-containing Complex BRCA1-A Complex Ribonucleoprotein Complex	Chromosome, Telomeric Region Nucleus Nucleoplasm Replication Fork Nucleolus Cytosol PML Body Mre11 Complex Site Of Double-strand Break Nuclear Inclusion Body
	Molecular Function	Transcription Regulatory Region Sequence-specific DNA Binding DNA Binding Damaged DNA Binding Transcription Coactivator Activity RNA Binding Ubiquitin-protein Transferase Activity Protein Binding Zinc Ion Binding Tubulin Binding Enzyme Binding Ubiquitin Protein Ligase Binding Identical Protein Binding RNA Polymerase Binding	Damaged DNA Binding Protein Binding Transcription Factor Binding Protein N-terminus Binding
	Biological Process	Double-strand Break Repair Via Homologous Recombination DNA Double-strand Break Processing DNA Replication Postreplication Repair Double-strand Break Repair Double-strand Break Repair Via Nonhomologous End Joining Regulation Of Gene Expression By Genetic Imprinting Regulation Of Transcription By RNA Polymerase II Regulation Of Transcription By RNA Polymerase III Fatty Acid Biosynthetic Process Apoptotic Process Cellular Response To DNA Damage Stimulus DNA Damage Response, Signal Transduction By P53 Class Mediator Resulting In Transcription Of P21 Class Mediator Chromosome Segregation Centrosome Cycle Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Dosage Compensation By Inactivation Of X Chromosome Response To Ionizing Radiation Positive Regulation Of Vascular Endothelial Growth Factor Production Positive Regulation Of Gene Expression Protein Ubiquitination Protein Deubiquitination Positive Regulation Of Protein Ubiquitination Negative Regulation Of Intracellular Estrogen Receptor Signaling Pathway Positive Regulation Of Histone Acetylation Negative Regulation Of Histone Acetylation Regulation Of Cell Population Proliferation Regulation Of Apoptotic Process Chordate Embryonic Development Response To Estrogen Regulation Of DNA Methylation Mitotic G2/M Transition Checkpoint Negative Regulation Of Fatty Acid Biosynthetic Process Positive Regulation Of DNA Repair Positive Regulation Of Angiogenesis Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Centriole Replication Positive Regulation Of Histone H3-K4 Methylation Negative Regulation Of Histone H3-K4 Methylation Negative Regulation Of Histone H3-K9 Methylation Positive Regulation Of Histone H3-K9 Methylation Protein Autoubiquitination Negative Regulation Of G0 To G1 Transition Positive Regulation Of Histone H4-K20 Methylation Positive Regulation Of Cell Cycle Arrest Cellular Response To Tumor Necrosis Factor Cellular Response To Indole-3-methanol Signal Transduction Involved In G2 DNA Damage Checkpoint Protein K6-linked Ubiquitination Regulation Of Signal Transduction By P53 Class Mediator Negative Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Negative Regulation Of Reactive Oxygen Species Metabolic Process Positive Regulation Of Histone H3-K9 Acetylation Positive Regulation Of Histone H4-K16 Acetylation	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		Meiotic synapsis SUMOylation of DNA damage response and repair proteins HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Metalloprotease DUBs 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 TP53 Regulates Transcription of DNA Repair Genes Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Transcriptional Regulation by E2F6 Meiotic recombination Defective DNA double strand break response due to BRCA1 loss of function Defective DNA double strand break response due to BARD1 loss of function	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		Breast cancer Ovarian cancer	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		Gynecologic disease (multivariate analysis) ( 31488892) Menopause (age at onset) ( 26414677 29773799) Monocyte percentage of white cells ( 32888494) Ovarian cancer ( 31488892) Ovarian cancer (MTAG) ( 31488892)	Lymphocyte counts ( 32888494) Lymphocyte percentage of white cells ( 32888494) Monocyte count ( 32888494)
Interacting Genes		318 interacting genes: ABL1 ABLIM3 ABRAXAS1 ACACA ACTG1 ACTN3 AHR AKT1 ALDH1A1 ANKRD28 ANTXR1 AP1M1 APLP2 AR ARNT ASH2L ATF1 ATM ATP1B1 ATP1B3 ATR ATRIP AURKA AURKC BABAM1 BAP1 BARD1 BRAP BRAT1 BRCA2 BRCC3 BRIP1 BRSK1 C2CD6 CABYR CASP3 CBX1 CBX5 CCDC120 CCNA1 CCNA2 CCNB1 CCND1 CDC25C CDK1 CDK2 CDK4 CDK7 CDKN2D CEP57L1 CHEK1 CHEK2 CLSPN CNRIP1 CNTLN CNTN4 COL1A1 COMMD1 CREBBP CRY2 CRYZL1 CSNK1D CSNK2A1 CSNK2B CSTF1 CTBP1 CTCFL CTNNB1 CUBN CWF19L2 DALRD3 DBF4 DCLRE1C DCN DDX24 DES DHPS DHX9 DNAJA1 DNAJA3 DNAJB1 DNHD1 DYNC1H1 DYNLT2B E2F1 E2F4 EED EIF3B EIF4A2 EIF5B ELK1 ELK4 ELOA ENO1 EP300 ERCC5 ERCC6 ERO1B ESR1 ETS1 ETV5 EZH2 FAM161A FAM184A FANCA FANCD2 FBXO44 FHL2 FLI1 FLNA FXR2 GCC1 GFI1B GGN GOLGA8DP GTF3C4 GUSBP1 H2AC20 H2AC4 H2AX HDAC1 HDAC2 HECTD3 HGF HIBADH HIVEP1 HNRNPC HNRNPD HORMAD1 HSPA14 HSPA8 HSPD1 IFI16 INPP1 ITIH5 ITPR1 ITPRID2 JAK1 JAK2 JUN JUNB JUND JUP KAT5 KDM1A KIF1B KPNA2 KPNA6 LCK LCMT1 LDHC LMNTD1 LMO4 LONRF1 MACROH2A1 MAN2C1 MAP3K1 MAP3K14 MAP3K3 MAP4K4 MARCKSL1 MDC1 MED1 MED21 MID2 MLH1 MNAT1 MSH2 MSH3 MSH6 MT-ND1 MYC MYOZ1 NBN NCOA2 NCOA3 NELFB NFKB1 NFYA NKAPL NMI NPC2 NRIP1 NUFIP1 NUP153 OBSCN PARG PEG3 PEX5 PGR PHF12 PIAS1 PIAS4 PIK3R1 PILRB PIN1 PISD POLB POLR2A POLR2H POLR2K POM121 POMGNT1 POU2F1 PPHLN1 PPP1CA PPP1CB PPP1R13B PPP2R5C PREP PRKAG3 PRKDC PRMT1 PRPF3 PSAP PSMA6 PSMA7 PSMD9 PSMG1 RACK1 RAD51 RANBP9 RB1 RBBP4 RBBP7 RBBP8 RBL1 RBL2 RCC1L RELA RFC1 RNF216 RPGRIP1 RPL31 RTKN2 RTL10 RUNX1T1 RWDD2B RWDD4 SDK2 SETX SKP2 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMC1A SNRNP200 SNX3 SNX6 SOX30 SP1 SPATA4 SQSTM1 SSX2IP STAC2 STAT1 STAT3 STAT5A SUMO1 SYT6 TARS1 TATDN2 TCEA2 TCEANC TEX101 THOC3 TLE4 TMPRSS12 TNS2 TOP1 TOP2A TP53 TP53BP1 TPTE2 TRIM24 TRIM46 TRIM74 TRRAP TSEN54 TSGA10IP TUBA4A TUBB TUBG1 TULP2 TXLNA UBB UBC UBE2D1 UBE2D2 UBE2D3 UBE2E1 UBE2E2 UBE2E3 UBE2J1 UBE2K UBE2L3 UBE2N UBE2T UBE2W UBE3A UBXN1 USF2 USH2A USP2 VCP WDR6 WNT2B WRN XIAP XRCC1 XRCC5 YY1 ZNF280D ZNF350 ZNF423 ZSCAN21	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		672	4683
HPRD ID		00218	04050
Ensembl ID		ENSG00000012048	ENSG00000104320
Uniprot IDs		A0A024R1V0 P38398	A0A0C4DG07 O60934
PDB IDs		1JM7 1JNX 1N5O 1OQA 1T15 1T29 1T2U 1T2V 1Y98 2ING 3COJ 3K0H 3K0K 3K15 3K16 3PXA 3PXB 3PXC 3PXD 3PXE 4IFI 4IGK 4JLU 4OFB 4U4A 4Y18 4Y2G 6G2I	5WQD
Enriched GO Terms of Interacting Partners?
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