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NUDT1 nudix hydrolase 1 [ Homo sapiens (human) ]

Gene ID: 4521, updated on 17-Oct-2021

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
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Genomic context

See NUDT1 in Genome Data Viewer
Location:
7p22.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (2242226..2251145)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2281861..2290780)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene mitotic arrest deficient 1 like 1 Neighboring gene Sharpr-MPRA regulatory region 7916 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in DNA protection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 aging IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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 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 
located_in 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_001354482.1
NP_001354483.1
NP_001354484.1
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)

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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)

  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
    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 ...
  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_002452.4NP_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, ENST00000356714.6
    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 ...
  5. NM_198948.2NP_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_198949.2NP_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_198950.2NP_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, AC004971, 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_198952.2NP_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, AC004971, 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
    Related
    ENST00000487426.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    2242226..2251145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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