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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NUDT1 Gene

protein-coding   GIFtS: 61
GCID: GC07P002248

Nudix (Nucleoside Diphosphate Linked Moiety X)-Type Motif...


(Previous symbol: MTH1)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nudix (Nucleoside Diphosphate Linked Moiety X)-Type Motif 11 2     8-Dihydro-8-Oxoguanine Triphosphatase1
MTH11 2 3 5     8-Dihydrodeoxyguanosine Triphosphatase1
8-oxo-dGTPase1 2 3     8-Dihydroguanosine Triphosphatase1
Nudix Motif 11 2 3     8-oxo-71
MutT Human Homolog 11 2     7,8-Dihydro-8-Oxoguanine Triphosphatase2
Nucleoside Diphosphate-Linked Moiety X-Type Motif 11 2     8-Oxo-7,8-Dihydrodeoxyguanosine Triphosphatase2
Nucleoside Diphosphate-Linked Moiety X Motif 12 3     8-Oxo-7,8-Dihydroguanosine Triphosphatase2
2-Hydroxy-DATP Diphosphatase2 3     EC 3.6.1.553
71     EC 3.6.1.563

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 Gene:
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)

GeneCards Summary for NUDT1 Gene: 
NUDT1 (nudix (nucleoside diphosphate linked moiety X)-type motif 1) is a protein-coding gene. Diseases associated with NUDT1 include attenuated familial adenomatous polyposis, and familial adenomatous polyposis, and among its related super-pathways are Purine metabolism and Metabolic pathways. GO annotations related to this gene include m7G(5')pppN diphosphatase activity and GTPase activity.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for NUDT1 at MOPED 

Post-translational modifications:

  • UniProtKB: The N-terminus is blocked
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P36639

  • NUDT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NUDT1 Protein Expression
    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
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12857738
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA12857738
    GO:0005759mitochondrial matrix IDA7782328
    GO:0005829cytosol TAS--

    NUDT1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    NUDT: Nudix motif containing

    5 InterPro protein domains:
     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 domains:
    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


    NUDT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS7713500
    GO:00084138-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity IDA10373420
    GO:0016787hydrolase activity ----
    GO:0030515snoRNA binding ISS--
    GO:00355398-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity IDA10608900
         
    NUDT1 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nudt1):
     behavior/neurological  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     nervous system  tumorigenesis 

    NUDT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nudt1tm1Tts for NUDT1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NUDT1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NUDT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Purine metabolism
    Metabolism of nucleotides0.42
    2Metabolism
    Metabolism0.40
    3oxidized GTP and dGTP detoxification
    oxidized GTP and dGTP detoxification
    4Phosphate bond hydrolysis by NUDT proteins
    Phosphate bond hydrolysis by NUDT proteins

    Pathways by source                                                                                                                                                                 See SuperPaths
    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 CentralTM 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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NTHL1P785493, ENSP000002190664I2D: score=2 STRING: ENSP00000219066
    RNMTL1Q9HC363, ENSP000003060804I2D: score=2 STRING: ENSP00000306080
    GABARAPO951663I2D: score=1 
    GABARAPL1Q9H0R83I2D: score=1 
    HIF1AQ166653I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process IDA11139615
    GO:0006195purine nucleotide catabolic process IDA10608900
    GO:0006200ATP catabolic process IDA11139615
    GO:0006203dGTP catabolic process IDA--
    GO:0006281DNA repair IEA--

    NUDT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    Browse Tocris compounds for NUDT1 (8ODP)

    2 HMDB Compounds for NUDT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    8-Oxo-dGMP8OG;8-Oxo-7,8-dihydro-2'-deoxyguanosine 5'-triphosphate ----
    8-Oxo-dGTP2'-deoxy-7,8-dihydro-8-oxo-Guanosine 5'-(tetrahydrogen triphosphate) (see all 6)139307-94-1--

    10/17 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA 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):

    NM_198952 BC065367 BX105258 AA460505 CA436496 NM_198950 BM927392 BM911698 
    BQ057852 CR407655 NM_198953 BC051375 BQ057524 AA444020 BU183805 NM_002452 
    NM_198948 AA429787 BQ642096 CR623608 BQ056561 NM_198954 NM_198949 BQ056841 

    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 <intensity>2/3
    CGAP TAG: TGGCCCGACG
    NUDT1 Expression
    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: 
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NUDT1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nudt11 , 5 nudix (nucleoside diphosphate linked moiety X)-type more1, 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
    Uncharacterized protein
    65(a)
    1 ↔ 1
    GL343340.1(5456-8110)
    zebrafish
    (Danio rerio)
    Actinopterygii wufb40g092 Danio rerio mRNA similar to mutT (E. coli) human homolog more 71.58(n)    BC049486.1 


    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, 4UniProtKB, 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)
    About This Section

    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)


    10/256 SNPs in NUDT1 are shown (see all 256)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1436732801,2
    --2283870(+) GGGTAC/GACGCA 7 -- int10--------
    rs341093961,2
    C,F--2283872(+) GTAGAC/TGCAGG 7 -- int15Minor allele frequency- T:0.01NS WA 284
    rs1511129451,2
    --2283889(+) AGCACA/GCTCTG 7 -- int10--------
    rs1164633571,2
    F--2283991(+) CACTGG/CGTTCT 7 -- int11Minor allele frequency- C:0.01WA 118
    rs1410806781,2
    --2284014(+) GAAAAC/TCACTG 7 -- int10--------
    rs351574721,2
    C,F--2284016(+) AAATCA/CCTGGT 7 -- int15Minor allele frequency- C:0.01NS NA 286
    rs360999901,2
    C,F--2284035(+) AGTTTT/CCCACC 7 -- int16Minor allele frequency- C:0.06NS WA 286
    rs1425938111,2
    --2284095(+) CCCCC-/GCCCCC 7 -- int10--------
    rs355371891,2
    C,F--2284119(+) AGCACG/ATCCCC 7 -- int14Minor allele frequency- A:0.01NS 166
    rs1996362101,2
    --2284162(+) CGCACA/GTCATG 7 -- int10--------

    HapMap Linkage Disequilibrium report for NUDT1 (2281857 - 2290781 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NUDT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv887280CNV Loss21882294
    nsv887278CNV Loss21882294
    nsv887274CNV Loss21882294
    nsv887279CNV Loss21882294
    dgv7110n71CNV Loss21882294
    nsv887277CNV Loss21882294
    nsv830886CNV Loss17160897


    Human Gene Mutation Database (HGMD): NUDT1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600312    OMIM disorders: --

    20/26 diseases for NUDT1 (see all 26):    About MalaCards
    attenuated familial adenomatous polyposis    familial adenomatous polyposis    sclerosing cholangitis    primary sclerosing cholangitis
    cholangitis    type 1 diabetes mellitus    non-small cell lung carcinoma    parkinson's disease
    esophageal adenocarcinoma    type 1 diabetes    colorectal cancer    retinal degeneration
    meningioma    pneumonia    adenoma    diabetes mellitus
    hypoxia    colon cancer    gastric cancer    esophagitis


    NUDT1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    9 Novoseek inferred 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)
    About This Section

    PubMed articles for NUDT1 gene, integrated from 9 sources (see all 109):
    (articles sorted by number of sources associating them with NUDT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of polymorphisms in the MTH1 gene with small cell lung carcinoma risk. (PubMed id 16774934)1, 2, 4, 9 Kohno T....Yokota J. (2006)
    2. 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)
    3. Association study of human MTH1 gene polymorphisms with type 1 diabetes mellitus. (PubMed id 15516784)1, 2, 4, 9 Miyako K....Hara T. (2004)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4521 HGNC: 8048 AceView: NUDT1 Ensembl:ENSG00000106268 euGenes: HUgn4521
    ECgene: NUDT1 H-InvDB: NUDT1

    (According to HUGE)
    About This Section
      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NUDT1 gene:
    Search GeneIP for patents involving NUDT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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