MLH1 and PMS1

Number of citations: 35 (PubMedID 11292842)
Data Source: HPRD (two hybrid, in vivo)

		MLH1	PMS1
Name		mutL homolog 1	PMS1 homolog 1, mismatch repair system component
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	Nucleus Mismatch Repair Complex MutLalpha 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	DNA Binding Protein Binding ATP Binding ATP Hydrolysis Activity Enzyme Binding Mismatched DNA Binding ATP-dependent DNA Damage Sensor Activity
	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	DNA Repair Mismatch Repair DNA Damage Response Response To Xenobiotic Stimulus
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	None
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 )	Cerebral amyloid angiopathy x sex interaction in Alzheimer’s disease ( 34020725 ) Ferritin levels ( 25162662 ) Iron status biomarkers (ferritin levels) ( 28334935 ) Lung cancer (SNP x SNP interaction) ( 24325914 ) Obesity-related traits ( 23251661 ) Subcutaneous adipose tissue ( 22589738 )
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	4 interacting genes: CDC42 DYNLT3 MLH1 RNF10
Entrez ID		4292	5378
HPRD ID		00390	02597
Ensembl ID		ENSG00000076242	ENSG00000064933
Uniprot IDs		A0A087WX20 A0A669KAW3 A0AAQ5BGN3 A0AAQ5BGZ2 H0Y818 P40692 Q59EG3	B4DIH7 B7ZAA0 E9PC40 I6L9H5 P54277 Q3BDU3 Q5XG96
PDB IDs		3RBN 4P7A 5U5P 6WBA 6WBB 6WBC 7M60	2CS1
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	Apolipoprotein A-I Receptor Binding Endothelin Receptor Signaling Pathway Involved In Heart Process Neuropilin Signaling Pathway GBD Domain Binding Storage Vacuole Microtubule-based Process Meiotic Spindle Midzone Assembly Meiotic Metaphase Chromosome Alignment Guanine/thymine Mispair Binding Male Meiosis Chromosome Segregation Homologous Chromosome Segregation MutLalpha Complex Female Meiosis Chromosome Segregation Chiasma Late Recombination Nodule Mismatch Repair Complex Meiotic Metaphase I Homologous Chromosome Alignment Negative Regulation Of Mitotic Recombination Mitotic Spindle Astral Microtubule Postsynapse To Nucleus Signaling Pathway Extrinsic Component Of Postsynaptic Density Membrane Positive Regulation Of Pinocytosis G Protein-coupled Receptor Signaling Pathway Involved In Heart Process Cardiac Neural Crest Cell Migration Involved In Outflow Tract Morphogenesis Positive Regulation Of Epithelial Cell Proliferation Involved In Lung Morphogenesis Positive Regulation Of Isotype Switching To IgA Isotypes MutSalpha Complex Binding Regulation Of Mitotic Recombination Establishment Of Golgi Localization Meiotic Telomere Clustering Chromosome Localization To Nuclear Envelope Involved In Homologous Chromosome Segregation Negative Regulation Of Schwann Cell Proliferation Leading Edge Membrane Thioesterase Binding Regulation Of Epithelial Cell Proliferation Involved In Lung Morphogenesis Neuron Fate Determination Golgi Transport Complex Positive Regulation Of Cell Cycle Telomere Localization Ribosome-associated Ubiquitin-dependent Protein Catabolic Process Ubiquitin Protein Ligase Activity Mismatched DNA Binding Positive Regulation Of Isotype Switching To IgG Isotypes Positive Regulation Of Pseudopodium Assembly Endothelin Receptor Signaling Pathway Microtubule-based Movement Somatic Hypermutation Of Immunoglobulin Genes Spindle Midzone Assembly Golgi Localization Meiotic Chromosome Segregation