MUTYH
Summary: This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mutY DNA glycosylase | MIM:604933 | Ensembl:ENSG00000132781 | HGNC:HGNC:7527 | PA31328 | 1p34.1 |
GO terms in MUTYH
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0006281 | DNA repair |
| BP | TAS | GO:0006281 | DNA repair |
| BP | IBA | GO:0006284 | base-excision repair |
| BP | IBA | GO:0006298 | mismatch repair |
| BP | TAS | GO:0006298 | mismatch repair |
| BP | TAS | GO:0045007 | depurination |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005739 | mitochondrion |
| MF | IBA | GO:0000701 | purine-specific mismatch base pair DNA N-glycosylase activity |
| MF | IMP | GO:0000701 | purine-specific mismatch base pair DNA N-glycosylase activity |
| MF | IEA | GO:0003677 | DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0019104 | DNA N-glycosylase activity |
| MF | IBA | GO:0032357 | oxidized purine DNA binding |
| MF | IDA | GO:0032405 | MutLalpha complex binding |
| MF | IDA | GO:0032406 | MutLbeta complex binding |
| MF | IDA | GO:0032407 | MutSalpha complex binding |
| MF | IDA | GO:0032408 | MutSbeta complex binding |
| MF | IBA | GO:0034039 | 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity |
| MF | IBA | GO:0035485 | adenine/guanine mispair binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IEA | GO:0051539 | 4 iron, 4 sulfur cluster binding |
Gene expression in normal tissue: MUTYH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MUTYH
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03410 | Base excision repair - Homo sapiens (human) |
| reactome | R-HSA-110330 | Recognition and association of DNA glycosylase with site containing an affected purine |
| reactome | R-HSA-110331 | Cleavage of the damaged purine |
| reactome | R-HSA-110357 | Displacement of DNA glycosylase by APEX1 |
| reactome | R-HSA-73884 | Base Excision Repair |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-73927 | Depurination |
| reactome | R-HSA-73929 | Base-Excision Repair, AP Site Formation |
| reactome | R-HSA-73933 | Resolution of Abasic Sites (AP sites) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD698 | Neratinib | 4 |
| iGMDRD152 | 179324-69-7 | 1 |
| iGMDRD341 | Triacsin c | 3 |
| iGMDRD71 | Sparfosic acid | 2 |
| iGMDRD579 | PF750 | 3 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD188 | Piperlongumine | 1 |
| iGMDRD67 | PENFLURIDOL | 6 |
| iGMDRD322 | FK 866 | 3 |
| iGMDRD886 | Compound 1541A | 3 |
| iGMDRD505 | Pevonedistat | 3 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD474 | Avrainvillamide | 1 |
| iGMDRD271 | Brefeldin A | 3 |
| iGMDRD441 | TW 37 | 1 |
| iGMDRD221 | Tamoxifen | 3 |
| iGMDRD6 | AM-580 | 2 |
| iGMDRD171 | Pemetrexed | 3 |
| iGMDRD782 | DC-45-A2 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MUTYH
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