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FLASH GENE
Symbol NUDT1 contributors: mct - updated : 26-06-2017
HGNC name nudix (nucleoside diphosphate linked moiety X)-type motif 1
HGNC id 8048
Location 7p22.3      Physical location : 2.281.856 - 2.290.780
Synonym name mut T (E coli) homolog (8-oxo-7,8-dihydroguanosine triphosphatase)
Synonym symbol(s) MTH1
EC.number 3.6.1.56/3.6.1.55
DNA
TYPE functioning gene
STRUCTURE 8.92 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
text initiation sites 1, 2A, 3A, 4A and alternative splicing (exons 2b/2c), 2B, 3B, 4B, three proteins
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 692 - 156 - 2016 26755138
5 - 743 - 156 - 2016 26755138
5 - 816 20.5 179 - 2016 26755138
  • variant 2B, p22, or MTH1b
  • a translation initiation at an upstream ATG resukting in a longer N terminus
  • 5 - 740 - 156 - 2016 26755138
    variant 3A, p18/MTH1d
    5 - 813 - 179 - 2016 26755138
    variant 3B, p21 or MTH1c
    4 - 728 - 156 - 2016 26755138
    variant 4A, p18
    4 - 801 - 179 - 2016 26755138
    variant 4B, p22
    - - - 26 - - 2016 26755138
  • localized in the mitochondria to the same extent as was MTH1d(Val83)
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Lymphoid/Immunethymus    
    Reproductivemale systemtestis   
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • MuT domain found in some nucleoside phosphatases and nucleotide pyrophosphatases
  • HOMOLOGY
    interspecies homolog to murine cleaning gene putative
    homolog to E.coli MutT
    Homologene
    FAMILY NUDIX hydrolase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    intracellular,nuclear envelope
    basic FUNCTION
  • hydrolyzes oxidized purine nucleotides 8-oxo-2'-deoxyguanosine triphosphate (8-oxo-dGTP), 2-OH-dATP or their ribo-forms to their monophosphates, thus minimizing replicational and transcriptional errors both in the nuclei and mitochondria
  • preventing microincorporation of 8-oxoguanine into DNA, therefore preventing (AT to GT) transversion mutations to cleanse the cell of potentially deleterious endogenous metabolites and to modulate the accumulation of intermediates in biochemical pathways in mouse
  • plays an important role in protecting cells against H(2)O(2)-induced apoptosis via a Noxa- and caspase-3/7-mediated signaling pathway, thus conferring a survival advantage through the inhibition of oxidative-stress-induced DNA damage
  • cleaves 8-oxo-dGTP but not 8-oxo-dGDP
  • NUDT1, NUDT15, NUDT18 may function together to help maintain the high fidelity of DNA replication and transcription under oxidative stress
  • enzyme that hydrolyses several oxidized purine nucleoside triphosphates to their corresponding nucleoside monophosphates
  • is a novel and critical component of oncogenic KRAS-associated malignancy and its inhibition is likely to yield significant tumor-suppressive outcomes in KRAS-driven tumors
  • is the most prominent sanitizer of the cellular deoxyribonucleoside triphosphates (dNTPs) pool known to date
  • protein enzyme that can help to prevent 8-oxo-dGTP misincorporation, plays critical roles in oxidative stress neutralization, oncogene-associated tumor malignancy, and anticancer therapies
  • hydrolyzes oxidatively damaged nucleoside triphosphates and is the main enzyme responsible for nucleotide sanitization
  • CELLULAR PROCESS nucleotide, repair
    PHYSIOLOGICAL PROCESS detoxification
    text protection of gene integrity
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • recognizes the different oxidized nucleotides via an exchange of the protonation state at two neighboring aspartate residues (Asp-119 and Asp-120) in its substrate binding pocket
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    might be a causative factor for aging and age-related disorders
    Susceptibility to diabetes type 1
    Variant & Polymorphism other
  • Met allele at codon 83 might be involved in the development of type 1 diabetes mellitus
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    NUDT1 inhibition may offer a general approach to treat cancers characterized by deregulated hypoxia signaling or redox imbalance
    ANIMAL & CELL MODELS