| Gene Symbol |
MSH6
|
| Entrez Gene |
2956
|
| Alt Symbol |
GTBP, GTMBP, HNPCC5, HSAP, p160
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
mutS homolog 6
|
| Other Description |
DNA mismatch repair protein Msh6|G/T mismatch-binding protein|mutS-alpha 160 kDa subunit|sperm-associated protein
|
| Swissprots |
Q8TCX4 O43706 P52701 B4E3I4 F5H2F9 O43917 B4DF41 Q9BTB5
|
| Accessions |
AAB47425 AAK21215 AAL87401 BAA23673 BAA23674 EAX00208 EAX00209 P52701 AK130683 AK293921 BAG57302 AK304735 BAG65496 AK308392 BC004246 AAH04246 BC071594 BC104665 AAI04666 D89646 BAA23675 DA857066 DQ892898 ABM83824 U28946 AAC50461 U54777 AAB39212 Y16676 CAC79990 XM_005264271 XP_005264328 XM_011532798 XP_011531100 XM_011532799 XP_011531101 XM_011532800 XP_011531102 NM_000179 NP_000170 NM_001281492 NP_001268421 NM_001281493 NP_001268422 NM_001281494 NP_001268423
|
| Function |
Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch re
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:23622243}. Chromosome {ECO:0000269|PubMed:23622243}. Note=Associates with H3K36me3 via its PWWP domain.
|
| Top Pathways |
Mismatch repair, Colorectal cancer
|
