7,8-dihydro-8-oxoguanine triphosphatase

Contribute

Send feedback

Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot P36639 (8ODP_HUMAN)

Last modified March 24, 2009. Version 87. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data |

Customize display

text xml rdf/xml gff fasta

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Hide | Top

Names and origin

Protein names

Recommended name:
    7,8-dihydro-8-oxoguanine triphosphatase
    EC=3.1.6.-
Alternative name(s):
    8-oxo-dGTPase
    Nucleoside diphosphate-linked moiety X motif 1
      Short name=Nudix motif 1

Gene names

Name:	NUDT1
Synonyms:	MTH1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Hide | Top

Protein attributes

Sequence length	197 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

Hide | Top

General annotation (Comments)

Function	Antimutagenic. Responsible for preventing misincorporation of 8-oxo-dGTP into DNA thus preventing A:T to C:G transversions.
Catalytic activity	8-oxo-dGTP + H₂O = 8-oxo-dGMP + diphosphate.
Tissue specificity	Widely expressed with highest expression in thymus, testis, embryo and proliferating blood lymphocytes. Ref.3
Developmental stage	In peripheral blood lymphocytes, expressed at much higher levels in proliferating cells than in resting cells. Ref.3
Post-translational modification	The N-terminus is blocked.
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%.
Sequence similarities	Belongs to the Nudix hydrolase family.

Hide | Top

Ontologies

Keywords
Coding sequence diversity	Alternative initiation Polymorphism
Molecular function	Hydrolase
Technical term	3D-structure Direct protein sequencing
Gene Ontology (GO)
Biological process	DNA repair Inferred from electronic annotation. Source: InterPro response to oxidative stress Ref.1 Traceable author statement. Source: ProtInc
Molecular function	8-oxo-7,8-dihydroguanine triphosphatase activity Inferred from electronic annotation. Source: InterPro GTPase activity Ref.2 Traceable author statement. Source: ProtInc protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Hide | Top

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NTHL1	P78549	1	EBI-1048967,EBI-1049350
RNMTL1	Q9HC36	1	EBI-1048967,EBI-1045440

Hide | Top

Alternative products

This entry describes 4 isoforms produced by alternative initiation. [Align] [Select]

Isoform p26 (identifier: P36639-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Note: 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.

Isoform p22 (identifier: P36639-2) The sequence of this isoform differs from the canonical sequence as follows: 1-18: Missing.

Isoform p21 (identifier: P36639-3) The sequence of this isoform differs from the canonical sequence as follows: 1-26: Missing.

Isoform p18 (identifier: P36639-4) The sequence of this isoform differs from the canonical sequence as follows: 1-41: Missing.

Hide | Top

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 197

197

7,8-dihydro-8-oxoguanine triphosphatase

PRO_0000019944

Regions

Motif

78 – 99

Nudix box

Natural variations

Alternative sequence

1 – 41

Missing in isoform p18.

VSP_018814

Alternative sequence

1 – 26

Missing in isoform p21.

VSP_018813

Alternative sequence

1 – 18

Missing in isoform p22.

VSP_018812

Natural variant

124

M → V: dbSNP rs4866. Ref.4 Ref.5 Ref.6

VAR_013757

Secondary structure

197

Helix Strand Turn

Details...

Hide | Top

Sequences

Sequence		Length	Mass (Da)
Isoform p26 [UniParc]. Last modified August 30, 2002. Version 2. Checksum: 82B25F56D382CE57 Show »	FASTA	197	22,552
10 20 30 40 50 60 MYWSNQITRR LGERVQGFMS GISPQQMGEP EGSWSGKNPG TMGASRLYTL VLVLQPQRVL 70 80 90 100 110 120 LGMKKRGFGA GRWNGFGGKV QEGETIEDGA RRELQEESGL TVDALHKVGQ IVFEFVGEPE 130 140 150 160 170 180 LMDMHVFCTD SIQGTPVESD EMRPCWFQLD QIPFKDMWPD DSYWFPLLLQ KKKFHGYFKF 190 QGQDTILDYT LREVDTV « Hide
Isoform p22. Checksum: 7C82B394995CDB61 Show »	FASTA	179	20,328
10 20 30 40 50 60 MSGISPQQMG EPEGSWSGKN PGTMGASRLY TLVLVLQPQR VLLGMKKRGF GAGRWNGFGG 70 80 90 100 110 120 KVQEGETIED GARRELQEES GLTVDALHKV GQIVFEFVGE PELMDMHVFC TDSIQGTPVE 130 140 150 160 170 SDEMRPCWFQ LDQIPFKDMW PDDSYWFPLL LQKKKFHGYF KFQGQDTILD YTLREVDTV « Hide
Isoform p21. Checksum: 06C3FAAA680204D6 Show »	FASTA	171	19,499
10 20 30 40 50 60 MGEPEGSWSG KNPGTMGASR LYTLVLVLQP QRVLLGMKKR GFGAGRWNGF GGKVQEGETI 70 80 90 100 110 120 EDGARRELQE ESGLTVDALH KVGQIVFEFV GEPELMDMHV FCTDSIQGTP VESDEMRPCW 130 140 150 160 170 FQLDQIPFKD MWPDDSYWFP LLLQKKKFHG YFKFQGQDTI LDYTLREVDT V « Hide
Isoform p18. Checksum: B9E6CC28ED06485F Show »	FASTA	156	17,984
10 20 30 40 50 60 MGASRLYTLV LVLQPQRVLL GMKKRGFGAG RWNGFGGKVQ EGETIEDGAR RELQEESGLT 70 80 90 100 110 120 VDALHKVGQI VFEFVGEPEL MDMHVFCTDS IQGTPVESDE MRPCWFQLDQ IPFKDMWPDD 130 140 150 SYWFPLLLQK KKFHGYFKFQ GQDTILDYTL REVDTV « Hide

Hide | Top

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and expression of cDNA for a human enzyme that hydrolyzes 8-oxo-dGTP, a mutagenic substrate for DNA synthesis." Sakumi K., Furuichi M., Tsuzuki T., Kakuma T., Kawabata S., Maki H., Sekiguchi M. J. Biol. Chem. 268:23524-23530(1993) [PubMed: 8226881] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM P18), PARTIAL PROTEIN SEQUENCE.
[2]	"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." Furuichi M., Yoshida M.C., Oda H., Tajiri T., Nakabeppu Y., Tsuzuki T., Sekiguchi M. Genomics 24:485-490(1994) [PubMed: 7713500] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Regulation of expression of the human MTH1 gene encoding 8-oxo-dGTPase. Alternative splicing of transcription products." Oda H., Nakabeppu Y., Furuichi M., Sekiguchi M. J. Biol. Chem. 272:17843-17850(1997) [PubMed: 9211940] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM P18), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
[4]	"Multi-forms of human MTH1 polypeptides produced by alternative translation initiation and single nucleotide polymorphism." Oda H., Taketomi A., Maruyama R., Itoh R., Nishioka K., Yakushiji H., Suzuki T., Sekiguchi M., Nakabeppu Y. Nucleic Acids Res. 27:4335-4343(1999) [PubMed: 10536140] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE INITIATION, VARIANT VAL-124.
[5]	NIEHS SNPs program Submitted (OCT-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-124.
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS P18 AND P22), VARIANT VAL-124. Tissue: Bone, Lymph and Muscle.
+	Additional computationally mapped references.

Hide | Top

Web resources

NIEHS-SNPs

Hide | Top

Cross-references

Sequence databases

D16581 mRNA. Translation: BAA04013.1.
D38594 Genomic DNA. Translation: BAA07601.1.
AB025233 mRNA. Translation: BAA83791.1.
AB025234 mRNA. Translation: BAA83792.1.
AB025235 mRNA. Translation: BAA83793.1.
AB025236 mRNA. Translation: BAA83794.1.
AB025237 mRNA. Translation: BAA83795.1.
AB025238 mRNA. Translation: BAA83796.1.
AB025239 mRNA. Translation: BAA83797.1.
AB025240 mRNA. Translation: BAA83798.1.
AB025241 mRNA. Translation: BAA83799.1.
AB025242 mRNA. Translation: BAA83800.1.
DQ230907 Genomic DNA. Translation: ABB02181.1.
BC014618 mRNA. Translation: AAH14618.1.
BC040144 mRNA. Translation: AAH40144.2.
BC065367 mRNA. Translation: AAH65367.1.

IPI

IPI00004392.
IPI00396056.
IPI00759462.
IPI00759578.

RefSeq

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

UniGene

Hs.534331

3D structure databases

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1IRY	NMR	-	A	42-197	[»]

ModBase

Search...

Protein-protein interaction databases

IntAct

P36639. 2 interactions.

Proteomic databases

PRIDE

P36639.

Genome annotation databases

Ensembl

ENSG00000106268. Homo sapiens. [Contig view]

GeneID

4521.

KEGG

hsa:4521.

Organism-specific databases

GeneCards

GC07P002248.

HGNC

HGNC:8048. NUDT1.

HPA

HPA012636.

MIM

600312. gene.

PharmGKB

PA31830.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

P36639.

HOVERGEN

P36639.

Gene expression databases

ArrayExpress

P36639.

Bgee

P36639.

CleanEx

HS_NUDT1.

GermOnline

ENSG00000106268. Homo sapiens.

Family and domain databases

InterPro

IPR003563. 8Ox_triPHTase.
IPR000086. NUDIX_hydrolase_core.
[Graphical view]

Gene3D

G3DSA:3.90.79.10. NUDIX_hydrolase. 1 hit.

Pfam

PF00293. NUDIX. 1 hit.
[Graphical view]

PRINTS

PR01403. 8OXTPHPHTASE.

PROSITE

PS00893. NUDIX. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

17452.

SOURCE

Search...

Hide | Top

Entry information

Entry name

8ODP_HUMAN

Accession

Primary (citable) accession number: P36639
Secondary accession number(s): Q6P0Y6

Q9UBM9

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	August 30, 2002
Last modified:	March 24, 2009
This is version 87 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Hide | Top

Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Alternative products

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Secondary structure

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents