SMAD4 and BRCA1

Data Source:
HPRD (in vitro)

		SMAD4	BRCA1
Description		SMAD family member 4	BRCA1 DNA repair associated
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GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Transcription Regulator Complex Cytoplasm Centrosome Cytosol Activin Responsive Factor Complex SMAD Protein Complex Heteromeric SMAD Protein Complex	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
	Molecular Function	Transcription Regulatory Region Sequence-specific DNA Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific RNA Polymerase II Transcription Factor Binding Transcription Coactivator Binding DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding Chromatin Binding DNA-binding Transcription Factor Activity Protein Binding Collagen Binding Identical Protein Binding Protein Homodimerization Activity Sulfate Binding Sequence-specific DNA Binding Metal Ion Binding I-SMAD Binding R-SMAD Binding Transcription Regulator Activator Activity	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
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Ovarian Follicle Development Branching Involved In Ureteric Bud Morphogenesis Response To Hypoxia In Utero Embryonic Development Gastrulation With Mouth Forming Second Outflow Tract Septum Morphogenesis Atrioventricular Valve Formation Epithelial To Mesenchymal Transition Involved In Endocardial Cushion Formation Left Ventricular Cardiac Muscle Tissue Morphogenesis Positive Regulation Of Cell Proliferation Involved In Heart Valve Morphogenesis Brainstem Development Regulation Of Transcription By RNA Polymerase II Cellular Iron Ion Homeostasis Transforming Growth Factor Beta Receptor Signaling Pathway SMAD Protein Complex Assembly Spermatogenesis Single Fertilization Axon Guidance Cell Population Proliferation Negative Regulation Of Cell Population Proliferation Anatomical Structure Morphogenesis Negative Regulation Of Cardiac Muscle Hypertrophy Positive Regulation Of Epithelial To Mesenchymal Transition Positive Regulation Of Pathway-restricted SMAD Protein Phosphorylation Neural Crest Cell Differentiation Protein Deubiquitination Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Cell Differentiation Negative Regulation Of Cell Growth BMP Signaling Pathway Positive Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Positive Regulation Of BMP Signaling Pathway Somite Rostral/caudal Axis Specification Regulation Of Transforming Growth Factor Beta2 Production Positive Regulation Of Luteinizing Hormone Secretion Somatic Stem Cell Population Maintenance Intracellular Signal Transduction Atrioventricular Canal Development Endothelial Cell Activation Embryonic Digit Morphogenesis Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Follicle-stimulating Hormone Secretion Mesendoderm Development Developmental Growth Neuron Fate Commitment Sebaceous Gland Development Formation Of Anatomical Boundary Regulation Of Binding Positive Regulation Of Histone H3-K4 Methylation Regulation Of Hair Follicle Development Uterus Development Positive Regulation Of SMAD Protein Signal Transduction SMAD Protein Signal Transduction Ventricular Septum Morphogenesis Negative Regulation Of Cell Death Endocardial Cell Differentiation Female Gonad Morphogenesis Secondary Palate Development Interleukin-6-mediated Signaling Pathway Negative Regulation Of ERK1 And ERK2 Cascade Response To Transforming Growth Factor Beta Cellular Response To BMP Stimulus Metanephric Mesenchyme Morphogenesis Nephrogenic Mesenchyme Morphogenesis Seminiferous Tubule Development Positive Regulation Of Transcription From RNA Polymerase II Promoter Involved In Cellular Response To Chemical Stimulus Positive Regulation Of Pri-miRNA Transcription By RNA Polymerase II Negative Regulation Of Cardiac Myofibril Assembly Positive Regulation Of Histone H3-K9 Acetylation	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
Pathways		Signaling by NODAL Signaling by Activin Signaling by BMP TGF-beta receptor signaling activates SMADs Downregulation of SMAD2/3:SMAD4 transcriptional activity Downregulation of SMAD2/3:SMAD4 transcriptional activity SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription SMAD4 MH2 Domain Mutants in Cancer SMAD2/3 MH2 Domain Mutants in Cancer Transcriptional regulation of pluripotent stem cells Ub-specific processing proteases RUNX2 regulates bone development RUNX3 regulates CDKN1A transcription RUNX3 regulates BCL2L11 (BIM) transcription FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes FOXO-mediated transcription of cell cycle genes FOXO-mediated transcription of cell cycle genes	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
Drugs
Diseases		Colorectal cancer Hereditary hemorrhagic telangiectasia (HHT) Pancreatic cancer Juvenile polyposis syndrome	Breast cancer Ovarian cancer
GWAS		Asthma ( 30929738 32296059) Asthma (childhood onset) ( 30929738) Asthma onset (childhood vs adult) ( 30929738) Immune response to anthrax vaccine ( 22658931) Metabolite levels ( 23823483) Oligoclonal band status in multiple sclerosis ( 25616667)	Gynecologic disease (multivariate analysis) ( 31488892) Menopause (age at onset) ( 26414677 29773799) Monocyte percentage of white cells ( 32888494) Ovarian cancer ( 31488892) Ovarian cancer (MTAG) ( 31488892)
Interacting Genes		214 interacting genes: ACVR1B AKT1 ALDOB AOPEP AP2B1 APBB2 AR ARFRP1 ARL5B ATF2 ATF7IP BAAT BCAS3 BEX1 BRCA1 BTRC CAMK2G CCDC180 CD59 CDC14B CEBPA CEBPB CEBPD CHEK1 CITED1 CNKSR1 COPS5 CREBBP CSH1 CSH2 CTCF CTNNB1 CYFIP2 DACH1 DCP1A DCP1B DKK3 DLX1 DNAJB2 DNMT3L DVL1 ECSIT EEF1A1 EID2 EIF2AK4 EP300 ERBIN ESR1 ESR2 ETV4 EWSR1 FANCC FBLN1 FBP2 FBXO30 FBXO34 FHL2 FHL3 FN1 FOXG1 FOXH1 FOXO1 FOXO3 FOXO4 FSTL3 GATA2 GLI3 GPNMB GREB1 HDGF HDLBP HEMGN HMG20A HNF4A HOXA9 HOXC8 HRAS HYAL2 IL24 ITK JUN JUNB JUND LAMTOR5 LEF1 LMO4 LRATD2 LYPD3 MAPK1 MAPK13 MAX MDM4 MECOM MEF2A MEX3B MSANTD3 MYOD1 NAT8 NEK6 NELFCD NFIA NFKBID NKX3-2 NOTCH4 NR0B2 NRAS NUAK2 NUP214 OTUB1 PAK1 PAPPA2 PARD3 PBK PIAS1 PIAS2 PIAS3 PIAS4 PLG PLK4 PPP2CB PPP3R2 PRKAR1B PRKAR2A PRPF40A PSG2 PSG9 PSMD11 RAB13 RAB25 RAB2B RAB34 RAB38 RAB3B RAC2 RALA RASD2 RASL12 RASSF5 RBL1 RELA RFX1 RHEBL1 RHOD RHOG RHOJ RIPK2 RMND5B RPL28 RPS27A RRAS2 RSPH14 S100A14 SASH3 SERPINA1 SERPINB5 SFRP2 SFRP4 SHC1 SKI SKIL SKP2 SMAD1 SMAD2 SMAD3 SMAD5 SMAD7 SMAD9 SNIP1 SNRNP70 SNW1 SOX12 SP1 SPTBN1 SQSTM1 STK11IP STK35 STUB1 STX17 TCTA TDG TENM3 TFE3 TGFBR1 TGFBR2 TGFBRAP1 THRSP TIAF1 TLE5 TM9SF2 TOB1 TRAP1 TSSK3 TSTD2 UBA52 UBB UBE2I UBE2L3 UBE2Z UHRF2 USB1 USP10 USP4 USP9X WWOX XPO5 ZBED5 ZBTB7A ZIC1 ZMYM2 ZNF189 ZNF423 ZNF510 ZNF521 ZNF8	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
Entrez ID		4089	672
HPRD ID		02995	00218
Ensembl ID		ENSG00000141646	ENSG00000012048
Uniprot IDs		A0A024R274 Q13485	A0A024R1V0 P38398
PDB IDs		1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V 5MEY 5MEZ 5MF0 5UWU	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
Enriched GO Terms of Interacting Partners?
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