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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NUDT1 Gene

protein-coding GIFtS: 59
GCID: GC07P002248

nudix (nucleoside diphosphate linked moiety X)-type motif...

(Previous symbol: MTH1)

Explore 26 diseases affiliated with
NUDT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nudix (Nucleoside Diphosphate Linked Moiety X)-Type Motif 1¹ ²		8-Oxo-7,8-Dihydrodeoxyguanosine Triphosphatase²
MTH1¹ ² ³ ⁵		8-Oxo-7,8-Dihydroguanosine Triphosphatase²
Nucleoside Diphosphate-Linked Moiety X Motif 1² ³		MutT Human Homolog 1²
Nudix Motif 1² ³		Nucleoside Diphosphate-Linked Moiety X-Type Motif 1²
2-Hydroxy-DATP Diphosphatase² ³		EC 3.6.1.55³
8-Oxo-DGTPase¹		EC 3.6.1.56³
7,8-Dihydro-8-Oxoguanine Triphosphatase²

External Ids:	HGNC: 8048¹	Entrez Gene: 4521²	Ensembl: ENSG00000106268⁷	OMIM: 600312⁵	UniProtKB: P36639³

Export aliases for NUDT1 gene to outside databases

Previous GC identifers: GC07P001926 GC07P002026 GC07P002055

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NUDT1:

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)

UniProtKB/Swiss-Prot: 8ODP_HUMAN, P36639

Function: Antimutagenic. Acts as a sanitizing enzyme for oxidized nucleotide pools, thus suppressing cell dysfunction

and death induced by oxidative stress. Hydrolyzes 8-oxo-dGTP, 8-oxo-dATP and 2-OH-dATP, thus preventing

misincorporation of oxidized purine nucleoside triphosphates into DNA and subsequently preventing A:T to C:G and G:C

to T:A transversions. Able to hydrolyze also the corresponding ribonucleotides, 2-OH-ATP, 8-oxo-GTP and 8-oxo-ATP.

Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA

Gene Wiki entry for NUDT1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NUDT1 gene promoter:
NRSF form 1 NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NUDT1 promoter sequence

Search SABiosciences Chromatin IP Primers for NUDT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NUDT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p22 Ensembl cytogenetic band: 7p22.3 HGNC cytogenetic band: 7p22

NUDT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUDT1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P002248: view genomic region (about GC identifiers)

Start:	2,281,857 bp from pter	End:	2,290,781 bp from pter
Size:	8,925 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 2,330,533-2,339,455

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 8ODP_HUMAN, P36639 (See protein sequence)

Recommended Name: 7,8-dihydro-8-oxoguanine triphosphatase precursor

Size: 197 amino acids; 22520 Da

Cofactor: Binds 1 magnesium ion per subunit (Probable)

Subunit: Monomer

Subcellular location: Isoform p18: Cytoplasm. Mitochondrion matrix. Nucleus. Note=Mostly present in cytoplasm. Variant

Met-124 has decreased efficiency in translocation to mitochondria

Subcellular location: Isoform p26: Cytoplasm. Mitochondrion matrix

Developmental stage: In peripheral blood lymphocytes, expressed at much higher levels in proliferating cells than in

resting cells

4 PDB 3D structures from and Proteopedia for NUDT1:

1IRY (3D)

3Q93 (3D)

3ZR0 (3D)

3ZR1 (3D)

Secondary accessions: A4D205 Q6LES7 Q6P0Y6 Q7Z7N6 Q8IV95 Q9UBM0 Q9UBM9

Alternative initiation: 4 isoforms: P36639-1 P36639-2 P36639-3 P36639-4 (Derived from a B-type mRNA with a polymorphic alteration (GU-->GC) at the beginning of exon 2c that converts an in-frame UGA to CGA yielding another in-frame AUG further upstream)

Explore the universe of human proteins at neXtProt for NUDT1: NX_P36639

Post-translational modifications:

The N-terminus is blocked¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P36639

NUDT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (7 alternative transcripts):

NP_002443.3 NP_945186.1 NP_945187.1 NP_945188.1 NP_945190.1 NP_945191.1 NP_945192.1

ENSEMBL proteins:

ENSP00000349148 ENSP00000380239 ENSP00000380241 ENSP00000405334 ENSP00000339503

ENSP00000343439 ENSP00000380242

Reactome Protein details: P36639
Human Recombinant Protein Products:

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	Novus Biologicals NUDT1 Proteins Novus Biologicals NUDT1 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for NUDT1
	Uscn Proteins for NUDT1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	12857738
GO:0005737	cytoplasm	IDA	--
GO:0005759	mitochondrial matrix	IDA	7782328

NUDT1 for ontologies About GeneDecksing

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Assay Products for NUDT1:

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	GenScript Custom Assay Services for NUDT1
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	Uscn ELISAs and CLIAs for NUDT1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NUDT1 for domains About GeneDecksing

5 InterPro domains/families:

IPR015797 NUDIX_hydrolase_dom-like

IPR020476 Nudix_hydrolase

IPR020084 NUDIX_hydrolase_CS

IPR003563 OxG-triPHTase

IPR000086 NUDIX_hydrolase_dom

Graphical View of Domain Structure for InterPro Entry P36639

ProtoNet protein and cluster: P36639

2 Blocks protein families:

IPB000086 NUDIX hydrolase

IPB003563 7,8-dihydro-8-oxoguanine triphosphatase signature

UniProtKB/Swiss-Prot: 8ODP_HUMAN, P36639

Similarity: Belongs to the Nudix hydrolase family

Similarity: Contains 1 nudix hydrolase domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 8ODP_HUMAN, P36639

Function: Antimutagenic. Acts as a sanitizing enzyme for oxidized nucleotide pools, thus suppressing cell dysfunction

and death induced by oxidative stress. Hydrolyzes 8-oxo-dGTP, 8-oxo-dATP and 2-OH-dATP, thus preventing

misincorporation of oxidized purine nucleoside triphosphates into DNA and subsequently preventing A:T to C:G and G:C

to T:A transversions. Able to hydrolyze also the corresponding ribonucleotides, 2-OH-ATP, 8-oxo-GTP and 8-oxo-ATP.

Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA

Catalytic activity: 8-oxo-dGTP + H(2)O = 8-oxo-dGMP + diphosphate

Catalytic activity: 2-hydroxy-dATP + H(2)O = 2-hydroxy-dAMP + diphosphate

Enzyme regulation: 2-hydroxy-dATPase activity is inhibited by 2-OH-dADP, 8-OH-dGDP and 8-OH-dGTP. 8-OH-dGTPase activity

is inhibited by 8-OH-dGDP, 2-OH-dADP and 2-OH-dATP

Biophysicochemical properties: Kinetic parameters: KM=8.3 uM for 2-hydroxy-dATP (at 30 degrees Celsius and pH 8.0,

PubMed:11139615); KM=5.7 uM for 2-hydroxy-dATP (at 30 degrees Celsius and pH 7.2, PubMed:11139615); KM=4.3 uM for

2-hydroxy-rATP (at 30 degrees Celsius and pH 8.0, PubMed:11139615); KM=13.9 uM for 8-hydroxy-dATP (at 30 degrees

Celsius and pH 8.0, PubMed:11139615); KM=51.0 uM for 8-hydroxy-rATP (at 30 degrees Celsius and pH 8.0,

PubMed:11139615); KM=15.2 uM for 8-hydroxy-dGTP (at 30 degrees Celsius and pH 8.0, PubMed:11139615); KM=12.8 uM for

8-hydroxy-dGTP (at 30 degrees Celsius and pH 7.2, PubMed:11139615); KM=13.2 uM for 8-hydroxy-dGTP (at 22 degrees

Celsius and pH 7.5, PubMed:21787772); KM=55.0 uM for 8-hydroxy-rGTP (at 30 degrees Celsius and pH 8.0,

PubMed:11139615); KM=258 uM for dGTP (at 30 degrees Celsius and pH 8.0, PubMed:11139615); Note=The kinetic constants

are determined for the recombinant enzyme expressed in E.coli. 2-hydroxy-rATP shows the best catalytic efficiency; pH

dependence: Optimum pH is 7.8-8.2 with 8-hydroxy-dGTP as substrate, and 8.0- 8.5 with 2-hydroxy-dATP as substrate;

Genatlas biochemistry entry for NUDT1:

NUDIX (nucleoside diphosphate linked moiety X)-type motif 1,hydrolase,putative homolog of the mouse cleaning gene whose

functions is to cleanse the cell of potentially deleterious endogenous metabolites and to modulate the accumulation of

intermediates in biochemical pathways,presenting as seven types of mRNA produced by alternative transcription

initiation and splicing

Enzyme Numbers (IUBMB): EC 3.6.1.55¹ EC 3.6.1.56¹

miRNA Products:		OriGene 3'-UTR Clone (see all 7): NUDT1 Browse MicroRNA Expression Plasmids
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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		Search LifeMap BioReagents cell lines for NUDT1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUDT1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	TAS	7713500
GO:0008413	8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity	IDA	--
GO:0030515	snoRNA binding	ISS	--
GO:0035539	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity	IDA	--
GO:0046872	metal ion binding	IEA	--

NUDT1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Nudt1^tm1Tts for NUDT1
     2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Nudt1):

cellular

tumorigenesis

NUDT1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Phosphate bond hydrolysis by NUDT proteins

Phosphate bond hydrolysis by NUDT proteins

1.00

oxidized GTP and dGTP detoxification

oxidized GTP and dGTP detoxification

1.00

Metabolism

Metabolism

1.00

Purine metabolism

Metabolism of nucleotides

0.42

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for NUDT1

oxidized GTP and dGTP detoxification

3 Reactome Pathways for NUDT1

	Metabolism of nucleotides
	Metabolism
	Phosphate bond hydrolysis by NUDT proteins

NUDT1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NUDT1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/10 Interacting proteins for NUDT1 (P36639³ ENSP00000339503⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NTHL1	P78549³, ENSP00000219066⁴	I2D: score=2 STRING: ENSP00000219066
RNMTL1	Q9HC36³, ENSP00000306080⁴	I2D: score=2 STRING: ENSP00000306080
GABARAP	O95166³	I2D: score=1
GABARAPL1	Q9H0R8³	I2D: score=1
HIF1A	Q16665³	I2D: score=1

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006184	GTP catabolic process	IDA	--
GO:0006195	purine nucleotide catabolic process	IDA	10608900
GO:0006200	ATP catabolic process	IDA	11139615
GO:0006203	dGTP catabolic process	IDA	--
GO:0006281	DNA repair	IEA	--

NUDT1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NUDT1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NUDT1

2 HMDB Compounds for NUDT1 About this table

Compound	Synonyms	CAS #	PubMed Ids
8-Oxo-dGMP	8OG;8-Oxo-7,8-dihydro-2'-deoxyguanosine 5'-triphosphate	--	--
8-Oxo-dGTP	2'-deoxy-7,8-dihydro-8-oxo-Guanosine 5'-(tetrahydrogen triphosphate) (see all 6)	139307-94-1	--

10/17 Novoseek chemical compound relationships for NUDT1 gene (see all 17) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
8-oxo-dgtp	98.3	37	11756418 (3), 12857738 (2), 11376687 (2), 15133035 (2) (see all 24)
8-oxoguanine	83.7	8	12717453 (2), 16607562 (1), 17207658 (1), 19118192 (1) (see all 7)
dgtp	73.6	5	20144704 (3), 16621731 (1), 15516784 (1)
purine nucleoside	69.9	8	16621731 (2), 16273081 (2), 12857738 (1), 11376687 (1) (see all 6)
8-oxo-dg	69.4	8	10830871 (1), 18776649 (1), 15126288 (1), 7592783 (1) (see all 7)
nucleoside monophosphate	69.2	1	9092626 (1)
adenine	57.6	1	10350454 (1)
purine	44.7	2	17071637 (1), 15133035 (1)
mptp	42	2	16607562 (1), 16273081 (1)
methionine	27.8	5	11136354 (2), 9330614 (1)

Search CenterWatch for drugs/clinical trials and news about NUDT1 / 8ODP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NUDT1 gene (7 alternative transcripts):

NM_002452.3 NM_198948.1 NM_198949.1 NM_198950.1 NM_198952.1 NM_198953.1 NM_198954.1

Unigene Cluster for NUDT1:

Nudix (nucleoside diphosphate linked moiety X)-type motif 1

Hs.534331 [show with all ESTs]

Unigene Representative Sequence: BM455743

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000356714(uc003slr.1) ENST00000397046(uc003slt.1) ENST00000397048(uc003sls.1)

ENST00000454650 ENST00000343985(uc003slu.1) ENST00000339737(uc003slv.1)

ENST00000471348 ENST00000487426 ENST00000397049(uc003slp.1 uc003slq.1)

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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NUDT1 (see all 9) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NUDT1 (see all 7) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NUDT1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NUDT1

Additional cDNA sequence:

AB025233.1 AB025234.1 AB025235.1 AB025236.1 AB025237.1 AB025238.1 AB025239.1 AB025240.1

AB025241.1 AB025242.1 AK026631.1 BC014618.2 BC022818.1 BC040144.1 BC051375.1 BC065367.1

CR407655.1 D16581.1

12 DOTS entries:

DT.213155 DT.121051136 DT.95179423 DT.99939058 DT.101983677 DT.95179392 DT.95179428 DT.40240510

DT.121051135 DT.92414203 DT.120755777 DT.92421948

24/129 AceView cDNA sequences (see all 129):

BQ056841 CR407655 NM_002452 BQ056561 BQ057524 NM_198950 NM_198954 NM_198949

CA436496 BC065367 BM911698 BQ057852 CR623608 BU183805 AA460505 AA429787

BC051375 CA314536 BQ642096 NM_198952 BX105258 NM_198948 NM_198953 AA444020

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for NUDT1 (see all 7) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	·	3d	^	4a	·	4b	^	5	^	6	^	7a	·	7b	·	7c	·	7d
SP1:					-		-				-						-				-
SP2:					-		-										-				-
SP3:			-		-		-		-		-						-				-
SP4:																	-				-
SP5:																					-

ECgene alternative splicing isoforms for NUDT1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NUDT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGCCCGACG

About this image
See NUDT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NUDT1

SOURCE GeneReport for Unigene cluster: Hs.534331

UniProtKB/Swiss-Prot: 8ODP_HUMAN, P36639

Tissue specificity: Widely expressed with highest expression in thymus, testis, embryo and proliferating blood

lymphocytes

SABiosciences Expression via Pathway-Focused PCR Arrays including NUDT1:

Oxidative Stress in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for NUDT1 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nudt1^{1 , 5}	nudix (nucleoside diphosphate linked moiety X)-type more^{1, 5}	81.08(n)¹ 83.23(a)¹		5 (78.94 cM)⁵ 17766¹ NM_008637.1¹ NP_032663.1¹ 140331860⁵
chicken (Gallus gallus)	Aves	NUDT1¹	nudix (nucleoside diphosphate linked moiety X)-type more	72.29(n) 74.03(a)		416467 NM_001006160.2 NP_001006160.2
lizard (Anolis carolinensis)	Reptilia	NUDT1⁶	--	78(a)	1 ↔ 1	GL343340.1(5635-8110)
zebrafish (Danio rerio)	Actinopterygii	wufb40g09²	Danio rerio mRNA similar to mutT (E. coli) human homolog more	71.58(n)		BC049486.1
honey bee (Apis mellifera)	Insecta	--	--	47(a)	1 ↔ 1	Group1.2(136646-138258)

ENSEMBL Gene Tree for NUDT1 (if available)
TreeFam Gene Tree for NUDT1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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UniProtKB/Swiss-Prot: 8ODP_HUMAN, P36639

Polymorphism: A polymorphism between Met-1 and Met-19 removes a stop codon before the initiation codon for isoform p22

and gives rise to the production of isoform p26. The allele frequency of isoform p26 is about 20%. The allelle may be

associated with an increased risk for small cell lung carcinoma (SCLC)

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs62442508^1,2	C,	--	2280105(+)	`GTCACG/AGTTCA`	6	--	us2k¹ int¹		4		NA EA	244
rs139003052^1,2		--	2280157(+)	`ACATGC/TCTTAA`	6	--	us2k¹ int¹		0	--	--	--	--
rs114068312^1,2		--	2280258(+)	`CAGCCC/TACAAT`	6	--	us2k¹ int¹		1		WA	118
rs192577209^1,2		--	2280341(+)	`TGTCCC/TCTTTT`	6	--	us2k¹ int¹		0	--	--	--	--
rs147590084^1,2		--	2280343(+)	`TCCTC-/TTTTTCT`	6	--	int¹ us2k¹		0	--	--	--	--
rs141545577^1,2		--	2280376(+)	`TCTGGC/TGCCCA`	6	--	us2k¹ int¹		0	--	--	--	--
rs117468283^1,2	F,	--	2280424(+)	`TCCCGG/AGTTCA`	6	--	us2k¹ int¹		1		EA	120
rs185426033^1,2		--	2280472(+)	`TTACAA/GGCACA`	6	--	us2k¹ int¹		0	--	--	--	--
rs12672703^1,2	H	--	2280495(+)	`tccggC/Gtaatg`	6	--	us2k¹ int¹		0	--	--	--	--
rs150471348^1,2		--	2280503(+)	`ATGTTC/TGTATT`	6	--	int¹ us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NUDT1 (2281857 - 2290781 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NUDT1: --
Human Gene Mutation Database (HGMD): NUDT1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NUDT1 for disorders           About GeneDecksing

OMIM gene information: 600312    OMIM disorders: --

20/26 diseases for NUDT1 (see all 26):    About MalaCards

familial adenomatous polyposis attenuated familial adenomatous polyposis sclerosing cholangitis non-small cell lung carcinoma

primary sclerosing cholangitis type 1 diabetes mellitus cholangitis neurodegeneration

polyposis diabetes mellitus parkinson's disease colorectal cancer

lung carcinoma adenoma colon cancer ovarian cancer

gastric cancer meningioma prostate cancer pneumonia

9 Novoseek disease relationships for NUDT1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neuron loss	45.6	2	17279544 (1), 16273081 (1)
familial adenomatous polyposis	44.5	1	15449173 (1)
colorectal cancer	35.1	6	15143881 (2), 12707038 (1), 15449173 (1)
adenoma	30.3	2	17252231 (1), 15449173 (1)
lung tumor	21.9	1	15126288 (1)
parkinson disease	21.4	4	16273081 (1), 11136354 (1), 10589547 (1)
leukemia	0	1	15477005 (1)
tumors	0	10	9566706 (4), 15143881 (2), 12707038 (1)
cancer	0	4	15477005 (2), 19443904 (1), 19645683 (1)

Genetic Association Database (GAD): NUDT1
Human Genome Epidemiology (HuGE) Navigator: NUDT1 (22 documents)

Export disorders for NUDT1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for NUDT1 gene, integrated from 9 sources (see all 106):
(articles sorted by number of sources associating them with NUDT1)

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Cloning and expression of cDNA for a human enzyme that hydrolyzes 8- oxo-dGTP, a mutagenic substrate for DNA synthesis. (PubMed id 8226881)^{1, 2, 3, 9} Sakumi K....Sekiguchi M. (1993)
Association study of human MTH1 gene polymorphisms with type 1 diabetes mellitus. (PubMed id 15516784)^{1, 2, 4, 9} Miyako K....Hara T. (2004)
Regulation of expression of the human MTH1 gene encoding 8-oxo- dGTPase. Alternative splicing of transcription products. (PubMed id 9211940)^{1, 2, 9} Oda H.... Sekiguchi M. (1997)
Intracellular localization of 8-oxo-dGTPase in human cells, with special reference to the role of the enzyme in mitochondria. (PubMed id 7782328)^{1, 2, 9} Kang D....Takeshige K. (1995)
A molecular basis for the selective recognition of 2-hydroxy-dATP and 8-oxo-dGTP by human MTH1. (PubMed id 11756418)^{1, 2, 9} Sakai Y....Nakabeppu Y. (2002)
Functional significance of the conserved residues for the 23-residue module among MTH1 and MutT family proteins. (PubMed id 10608900)^{1, 2, 9} Fujii Y....Nakabeppu Y. (1999)
Structure of human MTH1, a Nudix family hydrolase that selectively degrades oxidized purine nucleoside triphosphates. (PubMed id 15133035)^{1, 2, 9} Mishima M....Shirakawa M. (2004)
Genomic structure and chromosome location of the human mutT homologue gene MTH1 encoding 8-oxo-dGTPase for prevention of A:T to C:G transversion. (PubMed id 7713500)^{1, 2, 9} Furuichi M.... Sekiguchi M. (1994)
Association of polymorphisms in the MTH1 gene with small cell lung carcinoma risk. (PubMed id 16774934)^{1, 2, 9} Kohno T....Yokota J. (2006)
The GT to GC single nucleotide polymorphism at the beginning of an alternative exon 2C of human MTH1 gene confers an amino terminal extension that functions as a mitochondrial targeting signal. (PubMed id 16607562)^{1, 2, 9} Sakai Y....Nakabeppu Y. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4521	HGNC: 8048	AceView: NUDT1	Ensembl:ENSG00000106268	euGenes: HUgn4521
ECgene: NUDT1	H-InvDB: NUDT1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NUDT1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for NUDT1	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/nudt1/

Intellectual Property for NUDT1 gene
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Patent Information for NUDT1 gene:
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GeneCards and IP:
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