Aliases for NUDT1 Gene
External Ids for NUDT1 Gene
Previous HGNC Symbols for NUDT1 Gene
Previous GeneCards Identifiers for NUDT1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for NUDT1 Gene
NUDT1 (Nudix (Nucleoside Diphosphate Linked Moiety X)-Type Motif 1) is a Protein Coding gene. Diseases associated with NUDT1 include attenuated familial adenomatous polyposis and sclerosing cholangitis. Among its related pathways are Metabolism and Purine metabolism (REACTOME). GO annotations related to this gene include GTPase activity and m7G(5)pppN diphosphatase activity.
UniProtKB/Swiss-Prot for NUDT1 Gene
Antimutagenic. Acts as a sanitizing enzyme for oxidized nucleotide pools, thus suppressing cell dysfunction and death induced by oxidative stress. Hydrolyzes 8-oxo-dGTP, 8-oxo-dATP and 2-OH-dATP, thus preventing misincorporation of oxidized purine nucleoside triphosphates into DNA and subsequently preventing A:T to C:G and G:C to T:A transversions. Able to hydrolyze also the corresponding ribonucleotides, 2-OH-ATP, 8-oxo-GTP and 8-oxo-ATP. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA.