LOCUS       NM_002452                658 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens nudix hydrolase 1 (NUDT1), transcript variant 1, mRNA.
ACCESSION   NM_002452
VERSION     NM_002452.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 658)
  AUTHORS   Xu,W., Zhang,Y., Su,Y., Li,L., Yang,X., Wang,L. and Gao,H.
  TITLE     USP9X regulates the proliferation, survival, migration and invasion
            of gastric cancer cells by stabilizing MTH1
  JOURNAL   BMC Gastroenterol 24 (1), 239 (2024)
   PUBMED   39075342
  REMARK    GeneRIF: USP9X regulates the proliferation, survival, migration and
            invasion of gastric cancer cells by stabilizing MTH1.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 658)
  AUTHORS   Lau,H.C., Yuan,X., Huang,H., Zhang,M., Hsueh,C.Y. and Gong,H.
  TITLE     Fusobacterium nucleatum facilitates proliferation and autophagy by
            activating miR-361-3p/NUDT1 axis through oxidative stress in
            hypopharyngeal squamous cell carcinoma
  JOURNAL   BMC Cancer 23 (1), 990 (2023)
   PUBMED   37848855
  REMARK    GeneRIF: Fusobacterium nucleatum facilitates proliferation and
            autophagy by activating miR-361-3p/NUDT1 axis through oxidative
            stress in hypopharyngeal squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 658)
  AUTHORS   Nakamura,T., Koga-Ogawa,Y., Fujimiya,K., Chirifu,M., Goto,M.,
            Ikemizu,S., Nakabeppu,Y. and Yamagata,Y.
  TITLE     Protonation states of Asp residues in the human Nudix hydrolase
            MTH1 contribute to its broad substrate recognition
  JOURNAL   FEBS Lett 597 (13), 1770-1778 (2023)
   PUBMED   36914375
  REMARK    GeneRIF: Protonation states of Asp residues in the human Nudix
            hydrolase MTH1 contribute to its broad substrate recognition.
REFERENCE   4  (bases 1 to 658)
  AUTHORS   Zhang,J., Liu,R., Mo,L., Liu,C. and Jiang,J.
  TITLE     miR-4478 Accelerates Nucleus Pulposus Cells Apoptosis Induced by
            Oxidative Stress by Targeting MTH1
  JOURNAL   Spine (Phila Pa 1976) 48 (5), E54-E69 (2023)
   PUBMED   36130054
  REMARK    GeneRIF: miR-4478 Accelerates Nucleus Pulposus Cells Apoptosis
            Induced by Oxidative Stress by Targeting MTH1.
REFERENCE   5  (bases 1 to 658)
  AUTHORS   Li,J., Wang,Z.H., Dang,Y.M., Li,D.N., Liu,Z., Dai,D.P. and Cai,J.P.
  TITLE     MTH1 suppression enhances the stemness of MCF7 through upregulation
            of STAT3
  JOURNAL   Free Radic Biol Med 188, 447-458 (2022)
   PUBMED   35809767
  REMARK    GeneRIF: MTH1 suppression enhances the stemness of MCF7 through
            upregulation of STAT3.
REFERENCE   6  (bases 1 to 658)
  AUTHORS   Oda,H., Taketomi,A., Maruyama,R., Itoh,R., Nishioka,K.,
            Yakushiji,H., Suzuki,T., Sekiguchi,M. and Nakabeppu,Y.
  TITLE     Multi-forms of human MTH1 polypeptides produced by alternative
            translation initiation and single nucleotide polymorphism
  JOURNAL   Nucleic Acids Res 27 (22), 4335-4343 (1999)
   PUBMED   10536140
REFERENCE   7  (bases 1 to 658)
  AUTHORS   Kang,D., Nishida,J., Iyama,A., Nakabeppu,Y., Furuichi,M.,
            Fujiwara,T., Sekiguchi,M. and Takeshige,K.
  TITLE     Intracellular localization of 8-oxo-dGTPase in human cells, with
            special reference to the role of the enzyme in mitochondria
  JOURNAL   J Biol Chem 270 (24), 14659-14665 (1995)
   PUBMED   7782328
REFERENCE   8  (bases 1 to 658)
  AUTHORS   Furuichi,M., Yoshida,M.C., Oda,H., Tajiri,T., Nakabeppu,Y.,
            Tsuzuki,T. and Sekiguchi,M.
  TITLE     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
  JOURNAL   Genomics 24 (3), 485-490 (1994)
   PUBMED   7713500
REFERENCE   9  (bases 1 to 658)
  AUTHORS   Ponnambalam,S., Jackson,A.P., LeBeau,M.M., Pravtcheva,D.,
            Ruddle,F.H., Alibert,C. and Parham,P.
  TITLE     Chromosomal location and some structural features of human clathrin
            light-chain genes (CLTA and CLTB)
  JOURNAL   Genomics 24 (3), 440-444 (1994)
   PUBMED   7713494
REFERENCE   10 (bases 1 to 658)
  AUTHORS   Sakumi,K., Furuichi,M., Tsuzuki,T., Kakuma,T., Kawabata,S., Maki,H.
            and Sekiguchi,M.
  TITLE     Cloning and expression of cDNA for a human enzyme that hydrolyzes
            8-oxo-dGTP, a mutagenic substrate for DNA synthesis
  JOURNAL   J Biol Chem 268 (31), 23524-23530 (1993)
   PUBMED   8226881
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB025233.1 and BC022818.1.
            
            On Aug 14, 2020 this sequence version replaced NM_002452.3.
            
            Summary: 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
            rare single-nucleotide polymorphism that results in the production
            of an additional, longer isoform (p26) has been described.
            [provided by RefSeq, Dec 2018].
            
            Transcript Variant: This variant (1) encodes the predominant
            isoform (p18, also known as MTH1d). Variants 1, 2A, 3A, 4A, and 5
            encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC051375.1, AB025233.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356714.6/ ENSP00000349148.1
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-562               AB025233.1         5-566
            563-658             BC022818.1         630-725
FEATURES             Location/Qualifiers
     source          1..658
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..658
                     /gene="NUDT1"
                     /gene_synonym="MTH1"
                     /note="nudix hydrolase 1"
                     /db_xref="GeneID:4521"
                     /db_xref="HGNC:HGNC:8048"
                     /db_xref="MIM:600312"
     exon            1..31
                     /gene="NUDT1"
                     /gene_synonym="MTH1"
                     /inference="alignment:Splign:2.1.0"
     exon            32..195
                     /gene="NUDT1"
                     /gene_synonym="MTH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             44..514
                     /gene="NUDT1"
                     /gene_synonym="MTH1"
                     /EC_number="3.6.1.56"
                     /note="isoform p18 is encoded by transcript variant 1;
                     8-oxo-7,8-dihydrodeoxyguanosine triphosphatase;
                     8-oxo-dGTPase; 7,8-dihydro-8-oxoguanine triphosphatase;
                     8-oxo-7,8-dihydroguanosine triphosphatase; mutT human
                     homolog 1; nudix motif 1; nucleoside diphosphate-linked
                     moiety X-type motif 1; nudix (nucleoside diphosphate
                     linked moiety X)-type motif 1; nucleoside
                     diphosphate-linked moiety X motif 1; 2-hydroxy-dATP
                     diphosphatase; methylated purine nucleoside triphosphate
                     hydrolase; oxidized purine nucleoside triphosphate
                     hydrolase"
                     /codon_start=1
                     /product="oxidized purine nucleoside triphosphate
                     hydrolase isoform p18"
                     /protein_id="NP_002443.3"
                     /db_xref="CCDS:CCDS5330.1"
                     /db_xref="GeneID:4521"
                     /db_xref="HGNC:HGNC:8048"
                     /db_xref="MIM:600312"
                     /translation="MGASRLYTLVLVLQPQRVLLGMKKRGFGAGRWNGFGGKVQEGET
                     IEDGARRELQEESGLTVDALHKVGQIVFEFVGEPELMDVHVFCTDSIQGTPVESDEMR
                     PCWFQLDQIPFKDMWPDDSYWFPLLLQKKKFHGYFKFQGQDTILDYTLREVDTV"
     exon            196..341
                     /gene="NUDT1"
                     /gene_synonym="MTH1"
                     /inference="alignment:Splign:2.1.0"
     exon            342..658
                     /gene="NUDT1"
                     /gene_synonym="MTH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      639..644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUDT1"
                     /gene_synonym="MTH1"
                     /note="hexamer: AATAAA"
     polyA_site      658
                     /gene="NUDT1"
                     /gene_synonym="MTH1"
                     /note="major polyA site"
ORIGIN      
        1 agaggccacg cccccggaag cggcggtgca gaacccaggg accatgggcg cctccaggct
       61 ctataccctg gtgctggtcc tgcagcctca gcgagttctc ctgggcatga aaaagcgagg
      121 cttcggggcc ggccggtgga atggctttgg gggcaaagtg caagaaggag agaccatcga
      181 ggatggggct aggagggagc tgcaggagga gagcggtctg acagtggacg ccctgcacaa
      241 ggtgggccag atcgtgtttg agttcgtggg cgagcctgag ctcatggacg tgcatgtctt
      301 ctgcacagac agcatccagg ggacccccgt ggagagcgac gaaatgcgcc catgctggtt
      361 ccagctggat cagatcccct tcaaggacat gtggcccgac gacagctact ggtttccact
      421 cctgcttcag aagaagaaat tccacgggta cttcaagttc cagggtcagg acaccatcct
      481 ggactacaca ctccgcgagg tggacacggt ctagcgggag cccagggcag cccctgggca
      541 ggagacgtgg ctgctgaaca gccgcaaacc atcttcacct gggggcattg agtggcgcag
      601 agccgggttt catctggaat taactggatg gaagggaaaa taaagctatc tagcggtg
//
