MLH3
Summary: This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mutL homolog 3 | MIM:604395 | Ensembl:ENSG00000119684 | HGNC:HGNC:7128 | PA30845 | 14q24.3 |
GO terms in MLH3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0001673 | male germ cell nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IBA | GO:0032300 | mismatch repair complex |
| CC | IBA | GO:0032389 | MutLalpha complex |
| BP | IBA | GO:0006298 | mismatch repair |
| BP | NAS | GO:0006298 | mismatch repair |
| BP | IEA | GO:0007130 | synaptonemal complex assembly |
| BP | NAS | GO:0007131 | reciprocal meiotic recombination |
| BP | IEA | GO:0007140 | male meiotic nuclear division |
| BP | IEA | GO:0007144 | female meiosis I |
| BP | IEA | GO:0008104 | protein localization |
| MF | IEA | GO:0003682 | chromatin binding |
| MF | TAS | GO:0003696 | satellite DNA binding |
| MF | IBA | GO:0003697 | single-stranded DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0016887 | ATPase activity |
| MF | IEA | GO:0019237 | centromeric DNA binding |
| MF | IEA | GO:0030983 | mismatched DNA binding |
Gene expression in normal tissue: MLH3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MLH3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-912446 | Meiotic recombination |
| kegg | hsa03430 | Mismatch repair - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MLH3
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