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NUDT1 nudix hydrolase 1 [ Homo sapiens (human) ]

Gene ID: 4521, updated on 8-Dec-2018

Summary

Official Symbol
NUDT1provided by HGNC
Official Full Name
nudix hydrolase 1provided by HGNC
Primary source
HGNC:HGNC:8048
See related
Ensembl:ENSG00000106268 MIM:600312
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTH1
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 rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018]
Expression
Broad expression in bone marrow (RPKM 17.0), testis (RPKM 13.9) and 24 other tissues See more
Orthologs

Genomic context

See NUDT1 in Genome Data Viewer
Location:
7p22.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (2242222..2251145)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2281857..2290780)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene mitotic arrest deficient 1 like 1 Neighboring gene uncharacterized LOC105375126 Neighboring gene mitochondrial rRNA methyltransferase 2 Neighboring gene microRNA 6836 Neighboring gene sorting nexin 8 Neighboring gene inner mitochondrial membrane peptidase subunit 1 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
NHGRI GWA Catalog

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
    Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
  • Phosphate bond hydrolysis by NUDT proteins, organism-specific biosystem (from REACTOME)
    Phosphate bond hydrolysis by NUDT proteins, organism-specific biosystemEnzymes that belong to the NUDT (Nudix) superfamily catalyze the hydrolysis of phosphodiester bonds in molecules including nucleoside triphosphates and diphosphates and nucleotide sugars. Family memb...
  • oxidized GTP and dGTP detoxification, organism-specific biosystem (from BIOCYC)
    oxidized GTP and dGTP detoxification, organism-specific biosystem
    oxidized GTP and dGTP detoxification
  • oxidized GTP and dGTP detoxification, conserved biosystem (from BIOCYC)
    oxidized GTP and dGTP detoxification, conserved biosystemGeneral background Maintenance of genomic and transcriptomic integrity is a vital goal of all organisms. Cells are often subjected to reactive oxygen species (ROS), such as |FRAME: CPD-12377|, that...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
DNA protection IDA
Inferred from Direct Assay
more info
PubMed 
DNA repair IC
Inferred by Curator
more info
PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
dATP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
dGTP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing small molecule catabolic process TAS
Traceable Author Statement
more info
 
purine nucleotide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
7,8-dihydro-8-oxoguanine triphosphatase
Names
2-hydroxy-dATP diphosphatase
8-oxo-7,8-dihydrodeoxyguanosine triphosphatase
8-oxo-7,8-dihydroguanosine triphosphatase
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
NP_002443.3
NP_945186.1
NP_945187.1
NP_945188.1
NP_945190.1
NP_945191.1
NP_945192.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001367553.1NP_001354482.1  7,8-dihydro-8-oxoguanine triphosphatase isoform p18

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 2A, 3A, and 4A, encodes isoform p18.
    Source sequence(s)
    AC004971
  2. NM_001367554.1NP_001354483.1  7,8-dihydro-8-oxoguanine triphosphatase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 7, encodes isoform 3.
    Source sequence(s)
    AC004971
  3. NM_001367555.1NP_001354484.1  7,8-dihydro-8-oxoguanine triphosphatase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 6, encodes isoform 3.
    Source sequence(s)
    AC004971
  4. NM_002452.3NP_002443.3  7,8-dihydro-8-oxoguanine triphosphatase isoform p18

    See identical proteins and their annotated locations for NP_002443.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (p18, also known as MTH1d). Variants 1, 2A, 3A, 4A, and 5 encode the same isoform.
    Source sequence(s)
    AB025233, BC022818
    Consensus CDS
    CCDS5330.1
    UniProtKB/Swiss-Prot
    P36639
    UniProtKB/TrEMBL
    A0A024R819
    Related
    ENSP00000349148.1, ENST00000356714.5
    Conserved Domains (1) summary
    cd03427
    Location:6140
    MTH1; MutT homolog-1 (MTH1) is a member of the Nudix hydrolase superfamily. MTH1, the mammalian counterpart of MutT, hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP and 2-hydroxy-ATP, to monophosphates, thereby preventing the ...
  5. NM_198948.1NP_945186.1  7,8-dihydro-8-oxoguanine triphosphatase isoform p18

    See identical proteins and their annotated locations for NP_945186.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2A) differs in the 5' UTR compared to variant 1. Variants 1, 2A, 3A, 4A, and 5 encode the same isoform (p18, also known as MTH1d).
    Source sequence(s)
    AB025233, AB025234, BC022818
    Consensus CDS
    CCDS5330.1
    UniProtKB/Swiss-Prot
    P36639
    UniProtKB/TrEMBL
    A0A024R819
    Conserved Domains (1) summary
    cd03427
    Location:6140
    MTH1; MutT homolog-1 (MTH1) is a member of the Nudix hydrolase superfamily. MTH1, the mammalian counterpart of MutT, hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP and 2-hydroxy-ATP, to monophosphates, thereby preventing the ...
  6. NM_198949.1NP_945187.1  7,8-dihydro-8-oxoguanine triphosphatase isoform p22

    See identical proteins and their annotated locations for NP_945187.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2B) differs in the 5' UTR and 5' coding region compared to variant 1, resulting in translation initiation at an upstream ATG and an isoform (p22, also known as MTH1b) with a longer N-terminus compared to isoform p18. Variants 2B, 3B, and 4B encode the same isoform.
    Source sequence(s)
    AB025233, AB025235, BC022818
    Consensus CDS
    CCDS5329.1
    UniProtKB/Swiss-Prot
    P36639
    UniProtKB/TrEMBL
    A0A024R858
    Conserved Domains (1) summary
    cd03427
    Location:29163
    MTH1; MutT homolog-1 (MTH1) is a member of the Nudix hydrolase superfamily. MTH1, the mammalian counterpart of MutT, hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP and 2-hydroxy-ATP, to monophosphates, thereby preventing the ...
  7. NM_198950.1NP_945188.1  7,8-dihydro-8-oxoguanine triphosphatase isoform p18

    See identical proteins and their annotated locations for NP_945188.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3A) differs in the 5' UTR compared to variant 1. Variants 1, 2A, 3A, 4A, and 5 encode the same isoform (p18, also known as MTH1d).
    Source sequence(s)
    AB025236, BC022818
    Consensus CDS
    CCDS5330.1
    UniProtKB/Swiss-Prot
    P36639
    UniProtKB/TrEMBL
    A0A024R819
    Related
    ENSP00000380239.1, ENST00000397046.5
    Conserved Domains (1) summary
    cd03427
    Location:6140
    MTH1; MutT homolog-1 (MTH1) is a member of the Nudix hydrolase superfamily. MTH1, the mammalian counterpart of MutT, hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP and 2-hydroxy-ATP, to monophosphates, thereby preventing the ...
  8. NM_198952.1NP_945190.1  7,8-dihydro-8-oxoguanine triphosphatase isoform p22

    See identical proteins and their annotated locations for NP_945190.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3B) differs in the 5' UTR and 5' coding region compared to variant 1, resulting in translation initiation at an upstream ATG and an isoform (p22, also known as MTH1b) with a longer N-terminus compared to isoform p18. Variants 2B, 3B, and 4B encode the same isoform.
    Source sequence(s)
    AB025237, BC022818
    Consensus CDS
    CCDS5329.1
    UniProtKB/Swiss-Prot
    P36639
    UniProtKB/TrEMBL
    A0A024R858
    Related
    ENSP00000380241.1, ENST00000397048.5
    Conserved Domains (1) summary
    cd03427
    Location:29163
    MTH1; MutT homolog-1 (MTH1) is a member of the Nudix hydrolase superfamily. MTH1, the mammalian counterpart of MutT, hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP and 2-hydroxy-ATP, to monophosphates, thereby preventing the ...
  9. NM_198953.1NP_945191.1  7,8-dihydro-8-oxoguanine triphosphatase isoform p18

    See identical proteins and their annotated locations for NP_945191.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4A) differs in the 5' UTR compared to variant 1. Variants 1, 2A, 3A, 4A, and 5 encode the same isoform (p18, also known as MTH1d).
    Source sequence(s)
    AB025238, BC022818
    Consensus CDS
    CCDS5330.1
    UniProtKB/Swiss-Prot
    P36639
    UniProtKB/TrEMBL
    A0A024R819
    Related
    ENSP00000343439.2, ENST00000339737.6
    Conserved Domains (1) summary
    cd03427
    Location:6140
    MTH1; MutT homolog-1 (MTH1) is a member of the Nudix hydrolase superfamily. MTH1, the mammalian counterpart of MutT, hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP and 2-hydroxy-ATP, to monophosphates, thereby preventing the ...
  10. NM_198954.1NP_945192.1  7,8-dihydro-8-oxoguanine triphosphatase isoform p22

    See identical proteins and their annotated locations for NP_945192.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4B) differs in the 5' UTR and 5' coding region compared to variant 1, resulting in translation initiation at an upstream ATG and an isoform (p22, also known as MTH1b) with a longer N-terminus compared to isoform p18. Variants 2B, 3B, and 4B encode the same isoform.
    Source sequence(s)
    AB025239, BC022818
    Consensus CDS
    CCDS5329.1
    UniProtKB/Swiss-Prot
    P36639
    UniProtKB/TrEMBL
    A0A024R858
    Related
    ENSP00000339503.4, ENST00000343985.8
    Conserved Domains (1) summary
    cd03427
    Location:29163
    MTH1; MutT homolog-1 (MTH1) is a member of the Nudix hydrolase superfamily. MTH1, the mammalian counterpart of MutT, hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP and 2-hydroxy-ATP, to monophosphates, thereby preventing the ...

RNA

  1. NR_160264.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004971

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    2242222..2251145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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