MSH6 — MutS homolog 6
MSH6 belongs to a gene co-expression module in 3 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
MSH6's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| CD19⁺ B cells | G1/S Replication Cell cycle | CDCA7, CHAF1A, CHEK1, E2F1, HELLS, MCM2, MCM4, MCM6 +3 more | View in SCUBA |
| Gamma-delta T cells | DNA Damage Response DNA/chromatin regulation | AP1B1, CCAR1, CHD8, DOCK2, EP400, ERBIN, GOLM2, IPO8 +17 more | |
| Hematopoietic progenitor cells | DNA Damage Repair Housekeeping | GSPT1, HNRNPR, LARS1, NCL, PARP1, PRKDC, SUPT16H |
About the gene
| Synonyms | GTBP, MSH-6 |
|---|---|
| Chromosome | 2: 47695530-47810063 |
| Predicted location | Intracellular |
| Essential gene | No |
| Protein class | Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins |
| Molecular function | DNA-binding |
| Biological process | DNA damage, DNA repair, Host-virus interaction |
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 repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated 'Lys-36' of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.