Homo sapiens Gene: NUDT1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-6841.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | NUDT1 | ||||||||||||||||||||||
Gene Name | nudix (nucleoside diphosphate linked moiety X)-type motif 1 | ||||||||||||||||||||||
Synonyms | MTH1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000106268 | ||||||||||||||||||||||
Encoded Proteins |
nudix (nucleoside diphosphate linked moiety X)-type motif 1
nudix (nucleoside diphosphate linked moiety X)-type motif 1
nudix (nucleoside diphosphate linked moiety X)-type motif 1
nudix (nucleoside diphosphate linked moiety X)-type motif 1
nudix (nucleoside diphosphate linked moiety X)-type motif 1
nudix (nucleoside diphosphate linked moiety X)-type motif 1
nudix (nucleoside diphosphate linked moiety X)-type motif 1
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Protein Structure |
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Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 7:2242222-2251146 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | p22.3 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Method
Confidence
Comments
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Cross-References | |||||||||||||||||||||||
SwissProt | P36639 | ||||||||||||||||||||||
TrEMBL | A0A024R819 A0A024R858 C9J361 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4521 | ||||||||||||||||||||||
UniGene | |||||||||||||||||||||||
RefSeq | NM_198949 NM_198954 NM_002452 NM_198948 NM_198950 NM_198952 NM_198953 | ||||||||||||||||||||||
HUGO | HGNC:8048 | ||||||||||||||||||||||
OMIM | 600312 | ||||||||||||||||||||||
CCDS | CCDS5329 CCDS5330 | ||||||||||||||||||||||
HPRD | 02634 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB025233 AB025234 AB025235 AB025236 AB025237 AB025238 AB025239 AB025240 AB025241 AB025242 AC004971 BC014618 BC040144 BC051375 BC065367 CH236953 CH471144 CR407655 D16581 D38594 DQ230907 | ||||||||||||||||||||||
GenPept | AAH14618 AAH40144 AAH51375 AAH65367 ABB02181 BAA04013 BAA07601 BAA83791 BAA83792 BAA83793 BAA83794 BAA83795 BAA83796 BAA83797 BAA83798 BAA83799 BAA83800 CAG28583 EAL23948 EAL23949 EAW87225 EAW87226 EAW87227 EAW87228 EAW87229 EAW87230 EAW87231 EAW87232 | ||||||||||||||||||||||
RNA Seq Atlas | 4521 | ||||||||||||||||||||||