Homo sapiens Gene: NUDT1
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:2242222-2251146
Strand Forward strand
Band p22.3
Transcripts
ENST00000356714 ENSP00000349148
ENST00000339737 ENSP00000343439
ENST00000343985 ENSP00000339503
ENST00000397049 ENSP00000380242
ENST00000397048 ENSP00000380241
ENST00000397046 ENSP00000380239
ENST00000454650 ENSP00000405334
ENST00000471348
ENST00000487426
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003924 GTPase activity
GO:0008413 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity
GO:0016787 hydrolase activity
GO:0030515 snoRNA binding
GO:0035539 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity
GO:0046872 metal ion binding
GO:0047693 ATP diphosphatase activity
Biological Process
GO:0006184 GTP catabolic process
GO:0006195 purine nucleotide catabolic process
GO:0006200 ATP catabolic process
GO:0006203 dGTP catabolic process
GO:0006281 DNA repair
GO:0006979 response to oxidative stress
GO:0034656 nucleobase-containing small molecule catabolic process
GO:0042262 DNA protection
GO:0044281 small molecule metabolic process
GO:0046061 dATP catabolic process
GO:0055086 nucleobase-containing small molecule metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
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