MBD4 and MLH1

Number of citations: 37 (PubMedID 10097147)
Data Source: HPRD (two hybrid, in vivo)

		MBD4	MLH1
Name		methyl-CpG binding domain 4, DNA glycosylase	mutL homolog 1
Structure
GO Annotations	Cellular Component	Nucleus Nucleoplasm Nuclear Speck	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
	Molecular Function	DNA Binding Satellite DNA Binding Catalytic Activity DNA Endonuclease Activity Protein Binding Pyrimidine-specific Mismatch Base Pair DNA N-glycosylase Activity Hydrolase Activity DNA N-glycosylase Activity	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
	Biological Process	DNA Repair DNA Damage Response Response To Estradiol Depyrimidination	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
Pathways		Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Displacement of DNA glycosylase by APEX1	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
Diseases		None	Ovarian cancer Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome Colorectal cancer Endometrial Cancer
GWAS		Diisocyanate-induced asthma ( 25918132 ) Systemic sclerosis (anti-topoisomerase-positive) ( 29293537 ) Waist-hip index ( 34021172 ) Waist-to-hip ratio adjusted for BMI ( 26426971 34021172 ) Waist-to-hip ratio adjusted for BMI (age >50) ( 26426971 ) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971 )	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 )
Interacting Genes		18 interacting genes: APP CDCA2 CSNK2B DNMT3B FADD FAS HDAC1 KDM1A MLH1 NAT2 RSPH1 SIN3A SUV39H1 TRIM27 TRIM55 TRIM63 UBE2I UHRF1	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
Entrez ID		8930	4292
HPRD ID		04654	00390
Ensembl ID		ENSG00000129071	ENSG00000076242
Uniprot IDs		O95243	A0A087WX20 A0A669KAW3 A0AAQ5BGN3 A0AAQ5BGZ2 H0Y818 P40692 Q59EG3
PDB IDs		2MOE 3IHO 4DK9 4E9E 4E9F 4E9G 4E9H 4EA4 4EA5 4LG7 4OFA 4OFE 4OFH 5CHZ 6VJW 7KZ0 7KZ1 7KZG	3RBN 4P7A 5U5P 6WBA 6WBB 6WBC 7M60
GO Terms Enriched among Interactors		Epigenetic Regulation Of Gene Expression Negative Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of Transcription By RNA Polymerase II Chromatin Binding Negative Regulation Of Gene Expression, Epigenetic Chromatin Remodeling Negative Regulation Of RNA Biosynthetic Process Negative Regulation Of DNA-templated Transcription Negative Regulation Of Metabolic Process Negative Regulation Of RNA Metabolic Process Chromatin Organization Negative Regulation Of Macromolecule Metabolic Process CD95 Death-inducing Signaling Complex Heterochromatin Formation Death-inducing Signaling Complex Protein Modification Process Heterochromatin Condensed Nuclear Chromosome Transferase Activity Negative Regulation Of Macromolecule Biosynthetic Process Necroptotic Signaling Pathway Negative Regulation Of Biosynthetic Process Regulation Of Apoptotic Signaling Pathway RNA Polymerase II-specific DNA-binding Transcription Factor Binding Enzyme Binding Chromosome Transcription Corepressor Activity Regulation Of Transcription By RNA Polymerase II Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Intracellular Signal Transduction Motor Neuron Apoptotic Process Negative Regulation Of Gene Expression Cellular Response To Catecholamine Stimulus Response To Catecholamine SUMO Transferase Activity Positive Regulation Of Multicellular Organismal Process PML Body Nucleus Sin3-type Complex Macromolecule Metabolic Process Synaptonemal Complex Identical Protein Binding Negative Regulation Of Stem Cell Population Maintenance Regulation Of Primary Metabolic Process Positive Regulation Of Developmental Process Protein Metabolic Process Regulation Of Multicellular Organismal Process Regulation Of Cell Migration Neuron Maturation Immune System Process	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