NUDT1 nudix hydrolase 1 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:8048
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: mouse all
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Genomic context

Location:: 7p22.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (2242226..2251145)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (2355644..2364561)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (2281861..2290780)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

USP9X regulates the proliferation, survival, migration and invasion of gastric cancer cells by stabilizing MTH1.
Title: USP9X regulates the proliferation, survival, migration and invasion of gastric cancer cells by stabilizing MTH1.
Fusobacterium nucleatum facilitates proliferation and autophagy by activating miR-361-3p/NUDT1 axis through oxidative stress in hypopharyngeal squamous cell carcinoma.
Title: Fusobacterium nucleatum facilitates proliferation and autophagy by activating miR-361-3p/NUDT1 axis through oxidative stress in hypopharyngeal squamous cell carcinoma.
Protonation states of Asp residues in the human Nudix hydrolase MTH1 contribute to its broad substrate recognition.
Title: Protonation states of Asp residues in the human Nudix hydrolase MTH1 contribute to its broad substrate recognition.
miR-4478 Accelerates Nucleus Pulposus Cells Apoptosis Induced by Oxidative Stress by Targeting MTH1.
Title: miR-4478 Accelerates Nucleus Pulposus Cells Apoptosis Induced by Oxidative Stress by Targeting MTH1.
MTH1 suppression enhances the stemness of MCF7 through upregulation of STAT3.
Title: MTH1 suppression enhances the stemness of MCF7 through upregulation of STAT3.
Specific 8-oxo-dGTPase activity of MTH1 (NUDT1) protein as a quantitative marker and prognostic factor in human colorectal cancer.
Title: Specific 8-oxo-dGTPase activity of MTH1 (NUDT1) protein as a quantitative marker and prognostic factor in human colorectal cancer.
Karonudib has potent anti-tumor effects in preclinical models of B-cell lymphoma.
Title: Karonudib has potent anti-tumor effects in preclinical models of B-cell lymphoma.
A profile of 8-oxo-dGTPase activities in the NCI-60 human cancer panel: Meta-analytic insight into the regulation and role of MTH1 (NUDT1) gene expression in carcinogenesis.
Title: A profile of 8-oxo-dGTPase activities in the NCI-60 human cancer panel: Meta-analytic insight into the regulation and role of MTH1 (NUDT1) gene expression in carcinogenesis.
hMTH1 and GPX1 expression in human thyroid tissue is interrelated to prevent oxidative DNA damage.
Title: hMTH1 and GPX1 expression in human thyroid tissue is interrelated to prevent oxidative DNA damage.
The high expression of MTH1 and NUDT5 promotes tumor metastasis and indicates a poor prognosis in patients with non-small-cell lung cancer.
Title: The high expression of MTH1 and NUDT5 promotes tumor metastasis and indicates a poor prognosis in patients with non-small-cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (85)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MTH1 (e-PCR)
- UniSTS:48748

RH80750 (e-PCR)
- UniSTS:84470

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2-hydroxy-ATP hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables 2-hydroxy-dATP hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP diphosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables N6-methyl-(d)ATP hydrolase activity	IEA Inferred from Electronic Annotation more info
enables O6-methyl-dGTP hydrolase activity	IEA Inferred from Electronic Annotation more info
enables dATP diphosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables snoRNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in DNA protection	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA protection	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	IC Inferred by Curator more info	PubMed
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in purine nucleoside catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: oxidized purine nucleoside triphosphate hydrolase

Names: 2-hydroxy-dATP diphosphatase; 7,8-dihydro-8-oxoguanine triphosphatase; 8-oxo-7,8-dihydrodeoxyguanosine triphosphatase; 8-oxo-7,8-dihydroguanosine triphosphatase; 8-oxo-dGTPase; methylated purine nucleoside triphosphate hydrolase; 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_001354482.1

EC 3.6.1.56

NP_001354483.1

EC 3.6.1.56

NP_001354484.1

EC 3.6.1.56

NP_002443.3

EC 3.6.1.56

NP_945186.1

EC 3.6.1.56

NP_945187.1

EC 3.6.1.56

NP_945188.1

EC 3.6.1.56

NP_945190.1

EC 3.6.1.56

NP_945191.1

EC 3.6.1.56

NP_945192.1

EC 3.6.1.56

NCBI Reference Sequences (RefSeq)

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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)

NM_001367553.1 → NP_001354482.1 oxidized purine nucleoside triphosphate hydrolase 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

Consensus CDS

CCDS5330.1

UniProtKB/Swiss-Prot

A4D205, P36639, Q6LES7, Q6P0Y6, Q7Z7N6, Q8IV95, Q9UBM0, Q9UBM9

Conserved Domains (1) summary

cd03427
Location:6 → 140

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 ...
NM_001367554.1 → NP_001354483.1 oxidized purine nucleoside triphosphate hydrolase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variant 7, encodes isoform 3.

Source sequence(s)

AC004971
NM_001367555.1 → NP_001354484.1 oxidized purine nucleoside triphosphate hydrolase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variant 6, encodes isoform 3.

Source sequence(s)

AC004971
NM_002452.4 → NP_002443.3 oxidized purine nucleoside triphosphate hydrolase 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

A4D205, P36639, Q6LES7, Q6P0Y6, Q7Z7N6, Q8IV95, Q9UBM0, Q9UBM9

Related

ENSP00000349148.1, ENST00000356714.6

Conserved Domains (1) summary

cd03427
Location:6 → 140

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 ...
NM_198948.2 → NP_945186.1 oxidized purine nucleoside triphosphate hydrolase 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

A4D205, P36639, Q6LES7, Q6P0Y6, Q7Z7N6, Q8IV95, Q9UBM0, Q9UBM9

Conserved Domains (1) summary

cd03427
Location:6 → 140

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 ...
NM_198949.2 → NP_945187.1 oxidized purine nucleoside triphosphate hydrolase 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

Conserved Domains (1) summary

cd03427
Location:29 → 163

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 ...
NM_198950.2 → NP_945188.1 oxidized purine nucleoside triphosphate hydrolase 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, AC004971, BC022818

Consensus CDS

CCDS5330.1

UniProtKB/Swiss-Prot

A4D205, P36639, Q6LES7, Q6P0Y6, Q7Z7N6, Q8IV95, Q9UBM0, Q9UBM9

Related

ENSP00000380239.1, ENST00000397046.5

Conserved Domains (1) summary

cd03427
Location:6 → 140

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 ...
NM_198952.2 → NP_945190.1 oxidized purine nucleoside triphosphate hydrolase 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, AC004971, BC022818

Consensus CDS

CCDS5329.1

Related

ENSP00000380241.1, ENST00000397048.5

Conserved Domains (1) summary

cd03427
Location:29 → 163

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 ...
NM_198953.1 → NP_945191.1 oxidized purine nucleoside triphosphate hydrolase 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

A4D205, P36639, Q6LES7, Q6P0Y6, Q7Z7N6, Q8IV95, Q9UBM0, Q9UBM9

Related

ENSP00000343439.2, ENST00000339737.6

Conserved Domains (1) summary

cd03427
Location:6 → 140

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 ...
NM_198954.1 → NP_945192.1 oxidized purine nucleoside triphosphate hydrolase 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

Related

ENSP00000339503.4, ENST00000343985.8

Conserved Domains (1) summary

cd03427
Location:29 → 163

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 ...