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 | |||||||||||||||||||||||
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
Not yet available
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | C9J361 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4521 | ||||||||||||||||||||||
UniGene | |||||||||||||||||||||||
RefSeq | NM_002452 NM_198948 NM_198949 NM_198950 NM_198952 NM_198953 NM_198954 | ||||||||||||||||||||||
HUGO | HGNC:8048 | ||||||||||||||||||||||
OMIM | 600312 | ||||||||||||||||||||||
CCDS | CCDS5329 CCDS5330 | ||||||||||||||||||||||
HPRD | 02634 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC004971 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 4521 | ||||||||||||||||||||||