Immunogen sequence: MSGISPQQMG EPEGSWSGKN PGTMGASRLY TLVLVLQPQR VLLGMKKRGF GAGRWNGFGG KVQEGETIED GARRELQEES GLTVDALHKV GQIVFEFVGE PELMDVHVFC TDSIQGTPVE SDEMRPCWFQ LDQIPFKDMW PDDSYWFPLL LQKKKFHGYF KFQGQDTILD YTLREVDTV; Positive Samples: SW480, K-562, 22Rv1, THP-1, HepG2, SKOV3, 293T; Cellular Location: Cytoplasm, Mitochondrion matrix, Nucleus
Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described.
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Protein Aliases: 2-hydroxy-dATP diphosphatase; 7,8-dihydro-8-oxoguanine triphosphatase; 8-oxo-7,8-dihydro-2'-dGTPase; 8-oxo-7,8-dihydrodeoxyguanosine triphosphatase; 8-oxo-7,8-dihydroguanosine triphosphatase; 8-oxo-dGTPase; mutT human homolog (8-oxo-dGTPase); mutT human homolog 1; Nucleoside diphosphate-linked moiety X motif 1; nucleoside diphosphate-linked moiety X-type motif 1; nudix (nucleoside diphosphate linked moiety X)-type motif 1; Nudix motif 1; nudix-type motif 1
Gene Aliases: MTH1; NUDT1