| Gene Symbol |
Mlh1
|
| Entrez Gene |
17350
|
| Alt Symbol |
1110035C23Rik, AI317206, AI325952, AI561766
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
mutL homolog 1 (E. coli)
|
| Other Description |
DNA mismatch repair protein Mlh1|colon cancer, nonpolyposis type 2|mutL protein homolog 1
|
| Swissprots |
Q3TG77 Q62454 Q9JK91
|
| Accessions |
AAC52672 EDL08975 EDL08976 EDL08977 Q9JK91 AF250844 AAF64514 AK004105 BAB23172 AK038265 BAC29954 AK145646 AK163861 AK168849 BAE40671 AK206167 BC021815 AAH21815 BY327218 XM_006511946 XP_006512009 XM_006511947 XP_006512010 XM_006511948 XP_006512011 XM_006511949 XP_006512012 XM_006511950 XP_006512013 XM_006511951 XP_006512014 XM_011242935 XP_011241237 XR_379848 XR_379849 NM_026810 NP_081086
|
| Function |
Heterodimerizes with Pms2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (Msh2-Msh6) or MutS beta (Msh2-Msh6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS- heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of Pms2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (Mlh1-Pms2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in
|
| Subcellular Location |
Nucleus {ECO:0000250}.
|
| Top Pathways |
Mismatch repair, Colorectal cancer, Endometrial cancer, Fanconi anemia pathway
|
