PMS1
Summary: This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
PMS1 homolog 1, mismatch repair system component | MIM:600258 | Ensembl:ENSG00000064933 | HGNC:HGNC:9121 | PA33447 | 2q32.2 |
GO terms in PMS1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IBA | GO:0006298 | mismatch repair |
BP | IEA | GO:0042493 | response to drug |
CC | TAS | GO:0005634 | nucleus |
CC | IBA | GO:0032300 | mismatch repair complex |
CC | IBA | GO:0032389 | MutLalpha complex |
MF | TAS | GO:0003677 | DNA binding |
MF | IBA | GO:0003697 | single-stranded DNA binding |
MF | IEA | GO:0005524 | ATP binding |
MF | IBA | GO:0016887 | ATPase activity |
MF | IEA | GO:0030983 | mismatched DNA binding |
Gene expression in normal tissue: PMS1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PMS1
Database | Pathway ID | Pathway Des. |
---|
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD193 | Fqi1 | 2 |
iGMDRD398 | Sepantronium | 5 |
iGMDRD888 | Compound 44 | 2 |
iGMDRD872 | BRD7137 | 2 |
iGMDRD85 | Ursolic acid | 3 |
iGMDRD367 | Ro 28-1675 | 3 |
iGMDRD394 | BX-795 | 3 |
iGMDRD901 | ELCPK | 1 |
iGMDRD579 | PF750 | 2 |
iGMDRD5 | Tyrphostin AG 1478 | 2 |
iGMDRD77 | Itraconazole | 3 |
iGMDRD441 | TW 37 | 1 |
iGMDRD226 | ML006 | 2 |
iGMDRD427 | ABT737 | 3 |
iGMDRD6 | AM-580 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PMS1