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].
Loading, please wait...
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600258 Ensembl IDEnsembl:ENSG00000064933 HGNC IDHGNC:HGNC:9121 PHARMGKB IDPA33447 Map Location2q32.2 | |||||
GO terms in PMS1
Loading, please wait...
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 |
Gene expression in normal tissue: PMS1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PMS1
Loading, please wait...
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PMS1
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.