• Gene id: 4521

Gene Summary

• Gene Symbol: NUDT1   Gene   UCSC   Ensembl
• Aliases: MTH1
• Gene name: nudix hydrolase 1
• Alternate names: 7,8-dihydro-8-oxoguanine triphosphatase, 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 diph,
• Gene location: 7p22.3 (2242221: 2251144)     Exons: 8     NC_000007.14
• Gene summary(Entrez): 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 puri
• OMIM: 600312

Protein Summary

• Protein general information: P36639  
  • Name: 7,8 dihydro 8 oxoguanine triphosphatase (EC 3.6.1.55) (2 hydroxy dATP diphosphatase) (EC 3.6.1.56) (8 oxo dGTPase) (Nucleoside diphosphate linked moiety X motif 1) (Nudix motif 1)
  • Length: 197  
  • Mass: 22520
  • Tissue specificity: Widely expressed with highest expression in thymus, testis, embryo and proliferating blood lymphocytes. {ECO
• Sequence:

  MYWSNQITRRLGERVQGFMSGISPQQMGEPEGSWSGKNPGTMGASRLYTLVLVLQPQRVLLGMKKRGFGAGRWNG
  FGGKVQEGETIEDGARRELQEESGLTVDALHKVGQIVFEFVGEPELMDVHVFCTDSIQGTPVESDEMRPCWFQLD
  QIPFKDMWPDDSYWFPLLLQKKKFHGYFKFQGQDTILDYTLREVDTV

• Structural information:
  • Protein Domains: (44..17-)
    (/note="Nudix-hydrolase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00794"-)
  • Interpro: IPR020476  IPR015797  IPR020084  IPR000086  IPR003563  
  • Prosite: PS51462 PS00893
  • PDB: 1IRY 3Q93 3WHW 3ZR0 3ZR1 4C9W 4C9X 4N1T 4N1U 5ANS 5ANT 5ANU 5ANV 5ANW 5FSI 5FSK 5FSL 5FSM 5FSN 5FSO 5GHI 5GHJ 5GHM 5GHN 5GHO 5GHP 5GHQ 5NGR 5NGS 5NGT 5NHY 5OTM 5WS7 6AA3 6AA4 6AA5 6EQ2 6EQ3 6EQ4 6EQ5 6EQ6 6EQ7 6F1X 6F20 6F22 6F23 6GLE 6GLF 6GLG 6GLH 6GLI 6GLJ 6GLK 6GLL 6GLM 6GLN 6GLO 6GLP 6GLQ 6GLR 6GLS 6GLT 6GLU 6GL
  • PDBsum: 1IRY 3Q93 3WHW 3ZR0 3ZR1 4C9W 4C9X 4N1T 4N1U 5ANS 5ANT 5ANU 5ANV 5ANW 5FSI 5FSK 5FSL 5FSM 5FSN 5FSO 5GHI 5GHJ 5GHM 5GHN 5GHO 5GHP 5GHQ 5NGR 5NGS 5NGT 5NHY 5OTM 5WS7 6AA3 6AA4 6AA5 6EQ2 6EQ3 6EQ4 6EQ5 6EQ6 6EQ7 6F1X 6F20 6F22 6F23 6GLE 6GLF 6GLG 6GLH 6GLI 6GLJ 6GLK 6GLL 6GLM 6GLN 6GLO 6GLP 6GLQ 6GLR 6GLS 6GLT 6GLU 6GL
  • STRING: ENSP00000380241
• Other Databases: GeneCards:  NUDT1  Malacards:  NUDT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035539	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity	IDA	molecular function
GO:0035539	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity	IDA	molecular function
GO:0006203	dGTP catabolic process	IDA	biological process
GO:0042262	DNA protection	IDA	biological process
GO:0008413	8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity	IDA	molecular function
GO:0006195	purine nucleotide catabolic process	IDA	biological process
GO:0050072	m7G(5')pppN diphosphatase activity	ISS	NOT|molecular function
GO:0030515	snoRNA binding	ISS	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008413	8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0006979	response to oxidative stress	TAS	biological process
GO:0008828	dATP pyrophosphohydrolase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034656	nucleobase-containing small molecule catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006203	dGTP catabolic process	IEA	biological process
GO:0030515	snoRNA binding	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0046686	response to cadmium ion	IEA	biological process
GO:0008413	8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity	IEA	molecular function
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008584	male gonad development	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0036219	GTP diphosphatase activity	IDA	molecular function
GO:0006281	DNA repair	IC	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0047693	ATP diphosphatase activity	IDA	molecular function
GO:0047693	ATP diphosphatase activity	IDA	molecular function
GO:0046061	dATP catabolic process	IDA	biological process
GO:0008413	8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity	IDA	molecular function
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0006203	dGTP catabolic process	IDA	biological process
GO:0003924	GTPase activity	IDA	molecular function

Diseases

Associated diseases	References
Alzheimer's disease	PMID:21538080
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray