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Details on Person UniProt:Q9UIF7-1 MUTYH
| Class:Id | ReferenceIsoform:415397 |
|---|---|
| _chainChangeLog | chain:1-546 added on Sat February 7 2015 |
| _displayName | UniProt:Q9UIF7-1 MUTYH |
| _timestamp | 2024-11-03 19:52:41 |
| chain | chain:1-546 |
| checksum | 6C79BDB34345DD10 |
| comment | FUNCTION Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities.CATALYTIC ACTIVITY Hydrolyzes free adenine bases from 7,8-dihydro-8-oxoguanine:adenine mismatched double-stranded DNA, leaving an apurinic site.COFACTOR Binds 1 [4Fe-4S] cluster. The cluster does not appear to play a role in catalysis, but is probably involved in the proper positioning of the enzyme along the DNA strand.INTERACTION The disease is caused by variants affecting the gene represented in this entry.DISEASE The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations contribute to the development of a sub-set of sporadic gastric cancers in carriers of Helicobacter pylori (PubMed:15273732).SIMILARITY Belongs to the Nth/MutY family.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Probable cloning artifact.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Probable cloning artifact. |
| created | [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 |
| description | recommendedName: Adenine DNA glycosylase ecNumber evidence="19"3.2.2.31 alternativeName: MutY homolog shortName: hMYH |
| geneName | MUTYH MYH |
| identifier | Q9UIF7 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure 4Fe-4S Alternative splicing Disease variant DNA damage DNA repair Glycosidase Hydrolase Iron Iron-sulfur Metal-binding Mitochondrion Nucleus Proteomics identification Reference proteome Tumor suppressor |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | MUTYH |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8988515] ENSEMBL:ENSG00000132781 MUTYH [Homo sapiens] |
| secondaryIdentifier | MUTYH_HUMAN D3DPZ4 Q15830 Q9UBP2 Q9UBS7 Q9UIF4 Q9UIF5 Q9UIF6 |
| sequenceLength | 546 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q9UIF7-1 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9UIF7-1 MUTYH (415397)
