| URN | urn:agi-llid:2956 |
|---|---|
| Connectivity | 84 |
| Name | MSH6 |
| Description | mutS homolog 6 (E. coli) |
| Notes | This gene encodes a protein similar to the MutS protein. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides, prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein of this gene combines with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene have been identified in individuals with hereditary nonpolyposis colon cancer (HNPCC) and endometrial cancer. |
| Pathway | colorectal cancer pathway |
|---|
| GO Molecular Function | nucleotide binding |
|---|---|
| chromatin binding | |
| DNA binding | |
| protein homodimerization activity | |
| MutLalpha complex binding | |
| ADP binding | |
| ATP binding | |
| damaged DNA binding | |
| double-stranded DNA binding | |
| mismatched DNA binding | |
| four-way junction DNA binding | |
| guanine-thymine mispair binding | |
| single thymine insertion binding | |
| single guanine insertion binding | |
| oxidized purine DNA binding | |
| magnesium ion binding | |
| ATPase activity |
| GO Cellular Component | MutSalpha complex |
|---|---|
| nuclear chromatin | |
| nucleus |
| GO Biological Process | determination of adult lifespan |
|---|---|
| meiotic mismatch repair | |
| negative regulation of DNA recombination | |
| induction of apoptosis by intracellular signals | |
| DNA damage response, signal transduction resulting in induction of apoptosis | |
| isotype switching | |
| DNA repair | |
| maintenance of DNA repeat elements | |
| mismatch repair | |
| somatic recombination of immunoglobulin gene segments | |
| response to DNA damage stimulus | |
| somatic hypermutation of immunoglobulin genes | |
| response to UV | |
| positive regulation of helicase activity |
| Ariadne Ontology | DNA repair |
|---|
| Group | DNA repair |
|---|---|
| determination of adult lifespan | |
| meiotic mismatch repair | |
| negative regulation of DNA recombination | |
| induction of apoptosis by intracellular signals | |
| DNA damage response, signal transduction resulting in induction of apoptosis | |
| isotype switching | |
| DNA repair | |
| maintenance of DNA repeat elements | |
| mismatch repair | |
| somatic recombination of immunoglobulin gene segments | |
| response to DNA damage stimulus | |
| somatic hypermutation of immunoglobulin genes | |
| response to UV | |
| positive regulation of helicase activity | |
| nucleotide binding | |
| chromatin binding | |
| DNA binding | |
| protein homodimerization activity | |
| MutLalpha complex binding | |
| ADP binding | |
| ATP binding | |
| damaged DNA binding | |
| double-stranded DNA binding | |
| mismatched DNA binding | |
| four-way junction DNA binding | |
| guanine-thymine mispair binding | |
| single thymine insertion binding | |
| single guanine insertion binding | |
| oxidized purine DNA binding | |
| magnesium ion binding | |
| ATPase activity | |
| MutSalpha complex | |
| nuclear chromatin | |
| nucleus |
| MedScan ID | 2956 |
|---|
| Hugo ID | 7329 |
|---|
| Human chromosome position | 2p16 |
|---|
| LocusLink ID | 2956 |
|---|---|
| 17688 |
| Alias | GTBP |
|---|---|
| HSAP | |
| HNPCC5 | |
| DNA mismatch repair protein Msh6 | |
| p160 | |
| GTMBP | |
| hMSH6 | |
| sperm-associated protein | |
| mutS-alpha 160 kDa subunit | |
| G/T mismatch-binding protein | |
| AU044881 | |
| AW550279 | |
| G/T mismatch binding protein | |
| human sperm associated protein | |
| human sperm-associated protein | |
| Msh6 | |
| mutS (E. coli) homolog 6 | |
| mutS (E. coli) homolog VI | |
| mutS homolog 6 | |
| mutS homolog 6 (E. coli) | |
| mutS homolog VI | |
| mutS homolog | |
| G/T mismatch binding protein | |
| HNPCC5s |
| Organism | Homo sapiens |
|---|---|
| Mus musculus |
| OMIM ID | 600678 |
|---|---|
| 608089 | |
| 276300 | |
| 604370 |
| Mouse chromosome position | 17 47.0 cM |
|---|
| GO ID | 0043531 |
|---|---|
| 0005524 | |
| 0016887 | |
| 0032405 | |
| 0003682 | |
| 0003684 | |
| 0003690 | |
| 0000400 | |
| 0032137 | |
| 0000287 | |
| 0030983 | |
| 0000166 | |
| 0032357 | |
| 0042803 | |
| 0032142 | |
| 0032143 | |
| 0008630 | |
| 0006281 | |
| 0008340 | |
| 0008629 | |
| 0045190 | |
| 0043570 | |
| 0000710 | |
| 0006298 | |
| 0045910 | |
| 0051096 | |
| 0009411 | |
| 0016446 | |
| 0016447 | |
| 0032301 | |
| 0000790 | |
| 0005634 | |
| 0003677 | |
| 0006974 | |
| 0032139 | |
| 0005515 | |
| 0000701 | |
| 0006284 |
| Swiss-Prot Accession | P52701 |
|---|---|
| Q3SWU9 | |
| Q1L838 | |
| Q6LAI4 | |
| P54276 | |
| Q6GTK8 | |
| Q61061 | |
| Q8C2N9 | |
| Q9CRH0 | |
| O43706 | |
| O43917 | |
| Q8TCX4 | |
| Q9BTB5 | |
| O54710 |
| PIR ID | JC5839 |
|---|
| Unigene ID | Hs.445052 |
|---|---|
| Mm.18210 |
| KEGG ID | hsa:2956 |
|---|---|
| mmu:17688 |
| Swiss-Prot ID | MSH6_HUMAN |
|---|---|
| MSH6_MOUSE | |
| Q3SWU9_HUMAN | |
| Q6GTK8_MOUSE |
| Cell Localization | Nucleus |
|---|
| IPI ID | IPI00106847 |
|---|---|
| IPI00384456 | |
| IPI00323790 | |
| IPI00310173 | |
| IPI00892628 | |
| IPI00440122 | |
| IPI00893137 | |
| IPI00892806 | |
| IPI00893449 | |
| IPI00893025 |
| Homologene ID | 149 |
|---|
| RGD ID | 1321738 |
|---|
| MGI ID | 1343961 |
|---|