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UniProt functional annotation for O15527 | ||
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| UniProt code: O15527. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N- methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion. |
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| Catalytic activity: | |
Reaction=(DNA)-(deoxyribonucleoside 5'-phosphate)-(deoxyribose 5'- phosphate)-(deoxyribonucleoside 5'-phosphate) = (DNA)-3'- (deoxyribonucleoside 5'-phosphate)-(2,3-dehydro-2,3-deoxyribose 5'- phosphate) + H(+) + phospho-5'-(DNA); Xref=Rhea:RHEA:66592, Rhea:RHEA-COMP:13180, Rhea:RHEA-COMP:16897, Rhea:RHEA-COMP:17067, ChEBI:CHEBI:15378, ChEBI:CHEBI:136412, ChEBI:CHEBI:157695, ChEBI:CHEBI:167181; EC=4.2.99.18; |
| Subcellular location: | |
Nucleus, nucleoplasm {ECO:0000269|PubMed:17148573}. Nucleus speckle {ECO:0000269|PubMed:17148573}. Nucleus matrix {ECO:0000269|PubMed:17148573}. Note=Together with APEX1 is recruited to nuclear speckles in UVA-irradiated cells. |
| Subcellular location: | |
[Isoform 1A]: Nucleus. |
| Subcellular location: | |
[Isoform 2A]: Mitochondrion. |
| Tissue specificity: | |
Ubiquitous. |
| Disease: | |
Renal cell carcinoma (RCC) [MIM:144700]: Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. Note=The disease may be caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the type-1 OGG1 family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=AAB84013.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.