| URN | urn:agi-llid:4292 |
|---|---|
| Total Entities | 0 |
| Connectivity | 475 |
| Name | Mlh1 |
| Description | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) |
| Notes | This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined. |
| Ariadne Ontology | DNA repair |
|---|---|
| Secreted proteins |
| GO Molecular Function | MutSalpha complex binding |
|---|---|
| ATP binding | |
| structure-specific DNA binding | |
| single-stranded DNA binding | |
| mismatched DNA binding | |
| guanine-thymine mispair binding | |
| ATPase activity |
| GO Cellular Component | MutLalpha complex |
|---|---|
| MutLbeta complex | |
| nucleoplasm | |
| condensed nuclear chromosome | |
| chiasma | |
| synaptonemal complex | |
| mismatch repair complex | |
| chromosome | |
| condensed chromosome | |
| nucleus | |
| male germ cell nucleus |
| GO Biological Process | cell cycle |
|---|---|
| spindle midzone assembly involved in meiosis | |
| reciprocal meiotic recombination | |
| male meiosis chromosome segregation | |
| pachytene | |
| meiosis | |
| male meiosis | |
| meiotic metaphase I plate congression | |
| resolution of meiotic recombination intermediates | |
| meiotic chromosome segregation | |
| intrinsic apoptotic signaling pathway in response to DNA damage response | |
| negative regulation of mitotic recombination | |
| isotype switching | |
| ATP catabolic process | |
| nuclear-transcribed mRNA poly(A) tail shortening | |
| DNA repair | |
| mismatch repair | |
| double-strand break repair via nonhomologous end joining | |
| somatic recombination of immunoglobulin gene segments | |
| somatic recombination of immunoglobulin genes involved in immune response | |
| cellular response to organic cyclic compound | |
| response to DNA damage stimulus | |
| somatic hypermutation of immunoglobulin genes | |
| response to drug | |
| response to toxin | |
| response to hypoxia | |
| spermatogenesis | |
| oogenesis |
| Pathway | Single-Strand Mismatch DNA Repair |
|---|---|
| endometrial cancer pathway | |
| endometrial cancer pathway | |
| colorectal cancer pathway | |
| colorectal cancer pathway |
| Group | DNA repair |
|---|---|
| cell cycle | |
| spindle midzone assembly involved in meiosis | |
| reciprocal meiotic recombination | |
| male meiosis chromosome segregation | |
| pachytene | |
| meiosis | |
| male meiosis | |
| meiotic metaphase I plate congression | |
| resolution of meiotic recombination intermediates | |
| meiotic chromosome segregation | |
| intrinsic apoptotic signaling pathway in response to DNA damage response | |
| negative regulation of mitotic recombination | |
| isotype switching | |
| ATP catabolic process | |
| nuclear-transcribed mRNA poly(A) tail shortening | |
| DNA repair | |
| mismatch repair | |
| double-strand break repair via nonhomologous end joining | |
| somatic recombination of immunoglobulin gene segments | |
| somatic recombination of immunoglobulin genes involved in immune response | |
| cellular response to organic cyclic compound | |
| response to DNA damage stimulus | |
| somatic hypermutation of immunoglobulin genes | |
| response to drug | |
| response to toxin | |
| response to hypoxia | |
| spermatogenesis | |
| oogenesis | |
| MutSalpha complex binding | |
| ATP binding | |
| structure-specific DNA binding | |
| single-stranded DNA binding | |
| mismatched DNA binding | |
| guanine-thymine mispair binding | |
| ATPase activity | |
| MutLalpha complex | |
| MutLbeta complex | |
| nucleoplasm | |
| condensed nuclear chromosome | |
| chiasma | |
| synaptonemal complex | |
| mismatch repair complex | |
| chromosome | |
| condensed chromosome | |
| nucleus | |
| male germ cell nucleus | |
| Secreted proteins |
| MedScan ID | 4292 |
|---|
| Hugo ID | 7127 |
|---|
| Human chromosome position | 3p21.3 |
|---|
| LocusLink ID | 4292 |
|---|---|
| 17350 | |
| 81685 |
| Alias | FCC2 |
|---|---|
| COCA2 | |
| HNPCC | |
| hMLH1 | |
| HNPCC2 | |
| DNA mismatch repair protein Mlh1 | |
| AI317206 | |
| AI325952 | |
| AI561766 | |
| 1110035C23Rik | |
| mutL protein homolog 1 | |
| colon cancer, nonpolyposis type 2 | |
| mismatch repair protein 1 | |
| mutl (e. coli) homolog 1 (colon cancer, nonpolyposis type 2) | |
| Mlh I | |
| OTTHUMP00000210162 | |
| MGC5172 | |
| MLH1 | |
| mutl (e. coli) homolog 1 | |
| mutl (e. coli) homolog I | |
| mutL homolog 1 | |
| mutL homolog 1 (E. coli) | |
| mutL homolog 1, colon cancer, nonpolyposis type 2 | |
| mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | |
| OTTHUMP00000208782 | |
| LOC497834 | |
| DNA mismatch repair protein Mlh I | |
| mutL homolog I | |
| FCC2 gene | |
| LOC360440 | |
| 1110035C23 | |
| COCA2 gene | |
| colon cancer, nonpolyposis type gene | |
| colon cancer, nonpolyposis type II gene | |
| HNPCC2 gene | |
| hMLH I | |
| colon cancer, nonpolyposis type 2 gene | |
| colon cancer, nonpolyposis type | |
| colon cancer, nonpolyposis type II | |
| mismatch repair protein | |
| RIKEN cDNA 1110035C23 gene | |
| HNPCC2s | |
| expressed sequence AI317206 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 120436 |
|---|---|
| 609310 | |
| 158320 | |
| 276300 | |
| 114030 |
| Unigene ID | Hs.195364 |
|---|---|
| Mm.486383 | |
| Rn.20391 | |
| Mm.196006 |
| KEGG ID | hsa:4292 |
|---|---|
| mmu:17350 | |
| rno:81685 |
| Swiss-Prot Accession | P40692 |
|---|---|
| B4DQ11 | |
| E9PCU2 | |
| B4DI13 | |
| Q59EG3 | |
| Q9JK91 | |
| P97679 | |
| Q3TG77 | |
| Q62454 | |
| Q5GJ64 | |
| O00497 | |
| Q0ZAJ3 | |
| Q0ZAJ4 | |
| Q0ZAJ5 | |
| Q0ZAJ6 | |
| Q0ZAJ7 | |
| Q0ZAJ8 | |
| Q16335 | |
| Q53GX1 | |
| Q64FK0 | |
| Q6VBB8 | |
| Q8CAP8 | |
| Q8VDI4 | |
| Q9CTA7 |
| GO ID | 0005524 |
|---|---|
| 0016887 | |
| 0032407 | |
| 0032137 | |
| 0003697 | |
| 0006200 | |
| 0071407 | |
| 0006303 | |
| 0008630 | |
| 0045190 | |
| 0007060 | |
| 0043060 | |
| 0006298 | |
| 0045950 | |
| 0000289 | |
| 0048477 | |
| 0000239 | |
| 0007131 | |
| 0000712 | |
| 0042493 | |
| 0001666 | |
| 0009636 | |
| 0016446 | |
| 0007283 | |
| 0051257 | |
| 0032389 | |
| 0032390 | |
| 0005712 | |
| 0001673 | |
| 0032300 | |
| 0005634 | |
| 0000795 | |
| 0030983 | |
| 0043566 | |
| 0006281 | |
| 0007049 | |
| 0007140 | |
| 0007126 | |
| 0045132 | |
| 0006974 | |
| 0016447 | |
| 0002204 | |
| 0005694 | |
| 0000793 | |
| 0000794 | |
| 0005654 | |
| 0005515 | |
| 0045786 | |
| 0003674 | |
| 0008150 |
| PIR ID | S43085 |
|---|
| Swiss-Prot ID | MLH1_MOUSE |
|---|---|
| MLH1_RAT | |
| MLH1_HUMAN | |
| B4DQ11_HUMAN | |
| B4DI13_HUMAN | |
| Q3TG77_MOUSE | |
| Q5GJ64_HUMAN | |
| Q8VDI4_MOUSE |
| Cell Localization | Nucleus |
|---|
| IPI ID | IPI00122425 |
|---|---|
| IPI00947906 | |
| IPI00029754 | |
| IPI00924824 | |
| IPI00742734 | |
| IPI00652810 | |
| IPI00816514 | |
| IPI00816656 | |
| IPI00783152 | |
| IPI00795011 | |
| IPI00783524 | |
| IPI00783078 | |
| IPI00795638 | |
| IPI00794020 | |
| IPI00794481 | |
| IPI00792036 | |
| IPI00895511 | |
| IPI00566819 |
| Mouse chromosome position | 9 62.0 cM |
|---|
| Rat chromosome position | 8q32 |
|---|
| Homologene ID | 208 |
|---|
| MGI ID | 101938 |
|---|
| RGD ID | 620937 |
|---|
| Primary Cell Localization | Nucleus |
|---|