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 |
|---|---|---|---|---|---|
NamemutL homolog 1 OMIM IDMIM:120436 Ensembl IDEnsembl:ENSG00000076242 HGNC IDHGNC:HGNC:7127 PHARMGKB IDPA240 Map Location3p22.2 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MLH1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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