MLH1 and SMAD1

Number of citations: 0 (PubMedID 24412244)
Data Source: BioGRID (two hybrid)

		MLH1	SMAD1
Name		mutL homolog 1	SMAD family member 1
Structure
GO Annotations	Cellular Component	Condensed Chromosome Condensed Nuclear Chromosome Synaptonemal Complex Male Germ Cell Nucleus Nucleus Nucleoplasm Chromosome Chiasma Late Recombination Nodule Membrane Nuclear Lumen Mismatch Repair Complex MutLalpha Complex	Chromatin Male Germ Cell Nucleus Nucleus Nuclear Inner Membrane Nucleoplasm Transcription Regulator Complex Cytoplasm Cytosol Membrane Protein-containing Complex SMAD Protein Complex Homomeric SMAD Protein Complex Heteromeric SMAD Protein Complex
	Molecular Function	Nucleotide Binding Chromatin Binding Single-stranded DNA Binding Protein Binding ATP Binding Enzyme Activator Activity ATP Hydrolysis Activity Enzyme Binding Mismatched DNA Binding Guanine/thymine Mispair Binding MutSalpha Complex Binding ATP-dependent DNA Damage Sensor Activity	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding DNA-binding Transcription Factor Activity Protein Binding DEAD/H-box RNA Helicase Binding Protein Kinase Binding Ubiquitin Protein Ligase Binding Identical Protein Binding Sequence-specific DNA Binding Metal Ion Binding Co-SMAD Binding I-SMAD Binding Primary MiRNA Binding
	Biological Process	Nuclear-transcribed MRNA Poly(A) Tail Shortening Resolution Of Meiotic Recombination Intermediates Somatic Recombination Of Immunoglobulin Genes Involved In Immune Response DNA Repair Mismatch Repair Double-strand Break Repair Via Nonhomologous End Joining Response To Stress DNA Damage Response Male Meiosis Chromosome Segregation Homologous Chromosome Pairing At Meiosis Reciprocal Meiotic Recombination Male Meiotic Nuclear Division Spermatogenesis Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Response To Bacterium Female Meiosis Chromosome Segregation Somatic Hypermutation Of Immunoglobulin Genes Somatic Recombination Of Immunoglobulin Gene Segments Meiotic Metaphase I Homologous Chromosome Alignment Meiotic Chromosome Segregation Meiotic Telomere Clustering Homologous Chromosome Segregation Isotype Switching Negative Regulation Of Mitotic Recombination Positive Regulation Of Isotype Switching To IgA Isotypes Positive Regulation Of Isotype Switching To IgG Isotypes Oogenesis Meiotic Spindle Midzone Assembly Meiotic Cell Cycle	MAPK Cascade Ossification Osteoblast Differentiation Ureteric Bud Development Mesodermal Cell Fate Commitment Osteoblast Fate Commitment Cardiac Conduction System Development DNA-templated Transcription Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Transcription By RNA Polymerase II Intracellular Iron Ion Homeostasis Inflammatory Response Signal Transduction Transforming Growth Factor Beta Receptor Signaling Pathway Gamete Generation Cell Population Proliferation Negative Regulation Of Cell Population Proliferation Anatomical Structure Morphogenesis Embryonic Pattern Specification Positive Regulation Of Gene Expression Cell Differentiation BMP Signaling Pathway Midbrain Development Hindbrain Development Primary MiRNA Processing Developmental Process Homeostatic Process Positive Regulation Of Osteoblast Differentiation Positive Regulation Of Transcription By RNA Polymerase II Stem Cell Differentiation Negative Regulation Of Muscle Cell Differentiation Cartilage Development Cardiac Muscle Cell Proliferation Bone Development SMAD Protein Signal Transduction Positive Regulation Of Cartilage Development Cellular Response To Growth Factor Stimulus Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway Positive Regulation Of Dendrite Development Positive Regulation Of MiRNA Transcription Positive Regulation Of Sprouting Angiogenesis Anti-Mullerian Hormone Receptor Signaling Pathway
Pathways		Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) Defective Mismatch Repair Associated With MLH1 Defective Mismatch Repair Associated With PMS2 TP53 Regulates Transcription of DNA Repair Genes Meiotic recombination	Signaling by BMP Ub-specific processing proteases RUNX2 regulates bone development Cardiogenesis Transcriptional regulation of brown and beige adipocyte differentiation by EBF2
Diseases		Ovarian cancer Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome Colorectal cancer Endometrial Cancer	None
GWAS		Alanine aminotransferase levels ( 33547301 ) Autism spectrum disorder or schizophrenia ( 28540026 ) Liver enzyme levels (alanine transaminase) ( 33972514 ) Platelet distribution width ( 32888494 ) Proximal colorectal cancer ( 33632709 ) Schizophrenia ( 28991256 ) Subjective response to lithium treatment ( 26503763 )	HDL cholesterol levels ( 32203549 ) Hemoglobin ( 32888494 ) Lung function (FEV1) ( 30061609 ) Malaria ( 31844061 ) Midgestational cytokine/chemokine levels (maternal genetic effect) ( 30134952 ) Panic disorder ( 31712720 ) Red cell distribution width ( 32888494 ) Response to cognitive-behavioural therapy in anxiety disorder ( 26989097 )
Interacting Genes		139 interacting genes: - ABCC3 ABHD16A ACER3 ACTG2 AGR2 AIFM1 ALDOA ALDOB ANXA6 AP1B1 AP2B1 APRT ARAF ASS1 ATF2 BAAT BLM BRCA1 BTBD2 C9orf152 CAB39L CAPN5 CASP3 CBY2 CCDC180 CCDC33 CCDC74B CDCA7L CDKL5 CEP126 CEP76 CKAP4 CKB CTSV CYLC2 DDX47 EEF1G EEF2 EIF2A ELP6 ENKD1 EXO1 EXOC3 FAM228A FAM50B FAM90A1 FBXO32 FCGBP FLNB FRAT2 FRMD6 GABARAP GSTP1 HDAC6 IGKC ISY1 KPNA2 KPNA5 KPRP LEF1 LGALS4 LUC7L3 LY96 MAGEA8 MAP2K6 MBD3L1 MBD4 MLH3 MORN3 MPG MSH2 MSH3 MSH4 MSH5 MUC2 MYC MYL6 MYOG NANOS3 NDRG1 NELFA NME4 NT5C3B ORC4 PARP12 PARVA PCNA PER2 PIP4K2B PMS1 PMS2 PPP1R13B PPP2CB PRR5L PSMA1 PTGDS PTPN3 PTPRH RAD23B RAD9A RADX RAPGEFL1 RBM48 RSPH3 SEC61A1 SELENBP1 SERPINF1 SMAD1 SPATA8 SQSTM1 STAP2 STX17 SYF2 TASOR2 TDRD7 TFAP2D TLE5 TRIM23 TRIM29 TRMO TSGA13 TXN TXN2 U2AF1 UBOX5 VAMP8 XPA ZBED1 ZC3H11A ZER1 ZFP57 ZFP90 ZMAT5 ZNF177 ZNF212 ZNF474 ZNF559-ZNF177 ZNF774	163 interacting genes: ACVR1 ACVRL1 AKR1B1 ANKRD27 AP2A2 APC APP AR ARHGEF6 ARL4D AXIN2 BMPR1A BTBD2 BTG2 BUB1 CAMSAP1 CCND1 CDK7 CDK9 CHMP3 CILK1 COL4A1 CREBBP CTNNA1 DACH1 DLC1 DNMT3L DVL1 ECSIT EIF2AK4 ELP3 EP300 EPN2 ERBB2 ERBIN EWSR1 FBXL12 FBXO30 FBXW7 FHL5 FOXG1 FRZB GDF6 GLI3 GMEB1 GSC HBP1 HIPK2 HOXA13 HOXA5 HOXC8 HOXD13 ING2 INPP4A IRF2BP1 KAT2B KMT2D LEF1 LEMD3 LMNA MAP2K3 MAPK1 MAST4 MBD1 MECOM MED6 MEN1 MGA MLH1 MLH3 MRTFB MSH2 MUTYH NAT9 NEDD4 NEDD9 NEUROG1 NFE2L2 NKX3-2 NOTCH2 NRAS OAZ1 OAZ3 PAK1 PARD3 PDGFRL PIAS1 PIAS4 PIGQ PLEKHB1 PREB PSMB4 PSMD1 PSMD11 PTPN12 PUM1 RAB2B RAB30 RAB34 RAB38 RAB3B RAB6B RAC2 RAN RAP2A RASD2 RASL12 RFX1 RHEBL1 RHOG RPS27A SF3B1 SKI SKIL SMAD2 SMAD3 SMAD4 SMAD5 SMAD6 SMARCE1 SMURF1 SMURF2 SNIP1 SNRNP70 SOX5 SQSTM1 SS18L1 STARD13 STK11 STUB1 SUV39H1 TAPT1 TCF20 TET2 TGFBR1 TLR2 TNNT1 TOB1 TRIP6 TTF1 TTF2 UBA52 UBC UBE2Z UBXN1 USP45 VEPH1 WDR77 XPC XPO1 YAP1 YY1 ZBTB44 ZDHHC3 ZEB2 ZNF251 ZNF423 ZNF510 ZNF512B ZNF521 ZNF76 ZNF8 ZSCAN4
Entrez ID		4292	4086
HPRD ID		00390	03356
Ensembl ID		ENSG00000076242	ENSG00000170365
Uniprot IDs		A0A087WX20 A0A669KAW3 A0AAQ5BGN3 A0AAQ5BGZ2 H0Y818 P40692 Q59EG3	Q15797
PDB IDs		3RBN 4P7A 5U5P 6WBA 6WBB 6WBC 7M60	1KHU 2LAW 2LAX 2LAY 2LAZ 2LB0 2LB1 3Q47 3Q4A 5ZOK
GO Terms Enriched among Interactors		Mismatch Repair Mismatched DNA Binding ATP-dependent DNA Damage Sensor Activity Cellular Response To Stress Apoptotic Signaling Pathway Response To Estradiol DNA Damage Response Dinucleotide Insertion Or Deletion Binding Intrinsic Apoptotic Signaling Pathway Response To Corticosteroid DNA Repair Mismatch Repair Complex DNA Metabolic Process Protein Binding Response To Glucocorticoid Damaged DNA Binding Response To Hydrogen Peroxide Mitotic DNA Damage Checkpoint Signaling Nucleic Acid Metabolic Process Response To Dexamethasone Mitotic DNA Integrity Checkpoint Signaling Somatic Cell DNA Recombination Signal Transduction In Response To DNA Damage Nucleobase-containing Compound Metabolic Process Response To Reactive Oxygen Species MutSbeta Complex Dinucleotide Repeat Insertion Binding Response To Steroid Hormone Nucleus Response To Stress Somatic Hypermutation Of Immunoglobulin Genes DNA Recombination DNA Damage Checkpoint Signaling Somatic Recombination Of Immunoglobulin Gene Segments Fructose-bisphosphate Aldolase Activity Somatic Diversification Of Immune Receptors Via Somatic Mutation Single Guanine Insertion Binding MutLalpha Complex Response To Oxidative Stress Cellular Response To Corticosteroid Stimulus Mucus Secretion Response To Radiation Single-stranded DNA Binding P53 Binding Response To UV Mitotic Intra-S DNA Damage Checkpoint Signaling Signal Sequence Binding Guanine/thymine Mispair Binding Satellite DNA Binding Somatic Diversification Of Immunoglobulins	Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of RNA Metabolic Process Regulation Of Transcription By RNA Polymerase II Regulation Of Primary Metabolic Process Nucleoplasm Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Nucleus Positive Regulation Of RNA Metabolic Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Macromolecule Metabolic Process Regulation Of Developmental Process Positive Regulation Of Macromolecule Metabolic Process Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Regulation Of Metabolic Process SMAD Binding Regulation Of Gene Expression Pattern Specification Process Regulation Of Macromolecule Biosynthetic Process Regulation Of Cellular Response To Growth Factor Stimulus Positive Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Positive Regulation Of Metabolic Process Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Positive Regulation Of Biosynthetic Process Positive Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Positive Regulation Of Transcription By RNA Polymerase II Regulation Of Cell Differentiation Regionalization Negative Regulation Of RNA Metabolic Process Negative Regulation Of Transcription By RNA Polymerase II Anterior/posterior Pattern Specification Negative Regulation Of Macromolecule Metabolic Process Cell Surface Receptor Protein Serine/threonine Kinase Signaling Pathway Regulation Of Multicellular Organismal Process Chromatin Binding DNA Binding Cellular Developmental Process I-SMAD Binding Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway Positive Regulation Of Developmental Process Embryonic Morphogenesis Negative Regulation Of Developmental Process Negative Regulation Of Metabolic Process Regulation Of Multicellular Organismal Development Anatomical Structure Morphogenesis