MLH1
Summary: The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mutL homolog 1 | MIM:120436 | Ensembl:ENSG00000076242 | HGNC:HGNC:7127 | PA240 | 3p22.2 |
GO terms in MLH1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003682 | chromatin binding |
| MF | IBA | GO:0003697 | single-stranded DNA binding |
| MF | IDA | GO:0003697 | single-stranded DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0016887 | ATPase activity |
| MF | IEA | GO:0032137 | guanine/thymine mispair binding |
| MF | IDA | GO:0032407 | MutSalpha complex binding |
| CC | IBA | GO:0000795 | synaptonemal complex |
| CC | IEA | GO:0001673 | male germ cell nucleus |
| CC | IC | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005712 | chiasma |
| CC | IEA | GO:0005715 | late recombination nodule |
| CC | HDA | GO:0016020 | membrane |
| CC | IBA | GO:0032300 | mismatch repair complex |
| CC | IBA | GO:0032389 | MutLalpha complex |
| BP | IEA | GO:0000289 | nuclear-transcribed mRNA poly(A) tail shortening |
| BP | IEA | GO:0000712 | resolution of meiotic recombination intermediates |
| BP | IBA | GO:0006298 | mismatch repair |
| BP | IGI | GO:0006298 | mismatch repair |
| BP | TAS | GO:0006298 | mismatch repair |
| BP | IEA | GO:0006303 | double-strand break repair via nonhomologous end joining |
| BP | IEA | GO:0007060 | male meiosis chromosome segregation |
| BP | IEA | GO:0007129 | synapsis |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IEA | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
| BP | IEA | GO:0016321 | female meiosis chromosome segregation |
| BP | IBA | GO:0016446 | somatic hypermutation of immunoglobulin genes |
| BP | IEA | GO:0043060 | meiotic metaphase I plate congression |
| BP | IEA | GO:0045141 | meiotic telomere clustering |
| BP | IEA | GO:0045190 | isotype switching |
| BP | IEA | GO:0045950 | negative regulation of mitotic recombination |
| BP | IEA | GO:0048298 | positive regulation of isotype switching to IgA isotypes |
| BP | IEA | GO:0048304 | positive regulation of isotype switching to IgG isotypes |
| BP | IEA | GO:0048477 | oogenesis |
| BP | IEA | GO:0051257 | meiotic spindle midzone assembly |
Gene expression in normal tissue: MLH1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MLH1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pharmgkb | PA165292163 | Doxorubicin Pathway (Cancer Cell), Pharmacodynamics |
| pharmgkb | PA165374494 | Busulfan Pathway, Pharmacodynamics |
| pid | p53downstreampathway | Direct p53 effectors |
| kegg | hsa03430 | Mismatch repair - Homo sapiens (human) |
| kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05210 | Colorectal cancer - Homo sapiens (human) |
| kegg | hsa05213 | Endometrial cancer - Homo sapiens (human) |
| kegg | hsa05226 | Gastric cancer - Homo sapiens (human) |
| wikipathways | WP34 | Ovarian Infertility Genes |
| wikipathways | WP3808 | TP53 Regulates Transcription of DNA Repair Genes |
| wikipathways | WP4216 | Chromosomal and microsatellite instability in colorectal cancer |
| wikipathways | WP531 | Mismatch repair |
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-5358508 | Mismatch Repair |
| reactome | R-HSA-5358508 | Mismatch Repair |
| reactome | R-HSA-5358565 | Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) |
| reactome | R-HSA-5358606 | Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) |
| reactome | R-HSA-5423599 | Diseases of Mismatch Repair (MMR) |
| reactome | R-HSA-5545483 | Defective Mismatch Repair Associated With MLH1 |
| reactome | R-HSA-5632987 | Defective Mismatch Repair Associated With PMS2 |
| reactome | R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-912446 | Meiotic recombination |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD39 | Pyrimethamine | 1 |
| iGMDRD123 | Isoevodiamine | 2 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD57 | Chloropentafluorobenzene | 3 |
| iGMDRD352 | PD-0325901 | 1 |
| iGMDRD351 | GW843682X | 1 |
| iGMDRD368 | Oxaliplatin | 1 |
| iGMDRD583 | LDN 193189 | 1 |
| iGMDRD116 | CD437 | 3 |
| iGMDRD560 | MK-2206 | 2 |
| iGMDRD150 | RITA | 2 |
| iGMDRD456 | Crizotinib | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 2 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD412 | VX-702 | 1 |
| iGMDRD505 | Pevonedistat | 3 |
| iGMDRD3 | PD-173074 | 1 |
| iGMDRD329 | Merck60 | 2 |
| iGMDRD286 | Nsc 632839 | 10 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD68 | Paclitaxel | 2 |
| iGMDRD705 | Nakiterpiosin | 1 |
| iGMDRD105 | Triptolide | 2 |
| iGMDRD103 | SN-38 | 4 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD158 | NSC141540 | 3 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD748 | PHA-665752 | 1 |
| iGMDRD193 | Fqi1 | 2 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD670 | ML 210 | 1 |
| iGMDRD420 | Leucascandrolide A | 5 |
| iGMDRD136 | Nutlin-3 | 1 |
| iGMDRD409 | Saracatinib | 1 |
| iGMDRD151 | CHM-1 | 5 |
| iGMDRD356 | PNU-74654 | 2 |
| iGMDRD41 | Imatinib | 1 |
| iGMDRD225 | AC1MD3YP | 1 |
| iGMDRD96 | S-Trityl-L-cysteine | 1 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD131 | Erlotinib | 1 |
| iGMDRD64 | Parbendazole | 2 |
| iGMDRD133 | Lapatinib | 1 |
| iGMDRD188 | Piperlongumine | 5 |
| iGMDRD399 | Selumetinib | 4 |
| iGMDRD543 | GDC-0449 | 1 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD441 | TW 37 | 2 |
| iGMDRD468 | AZ628 | 1 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD309 | 17AAG | 1 |
| iGMDRD284 | Palbociclib | 1 |
| iGMDRD260 | FQI-2 | 3 |
| iGMDRD33 | Entinostat | 1 |
| iGMDRD134 | Sorafenib | 1 |
| iGMDRD493 | GSK269962A | 1 |
| iGMDRD491 | TAE-684 | 1 |
| iGMDRD138 | PX 12 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MLH1
CLASSFICATION
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