LOCUS       NM_001161                998 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens nudix hydrolase 2 (NUDT2), transcript variant 1, mRNA.
ACCESSION   NM_001161
VERSION     NM_001161.5
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 998)
  AUTHORS   Husain,R.A., Jiao,X., Hennings,J.C., Giesecke,J., Palsule,G.,
            Beck-Wodl,S., Osmanovic,D., Bjorgo,K., Mir,A., Ilyas,M.,
            Abbasi,S.M., Efthymiou,S., Dominik,N., Maroofian,R., Houlden,H.,
            Rankin,J., Pagnamenta,A.T., Nashabat,M., Altwaijri,W., Alfadhel,M.,
            Umair,M., Khouj,E., Reardon,W., El-Hattab,A.W., Mekki,M., Houge,G.,
            Beetz,C., Bauer,P., Putoux,A., Lesca,G., Sanlaville,D.,
            Alkuraya,F.S., Taylor,R.W., Mentzel,H.J., Hubner,C.A., Huppke,P.,
            Hart,R.P., Haack,T.B., Kiledjian,M. and Rubio,I.
  TITLE     Biallelic NUDT2 variants defective in mRNA decapping cause a
            neurodevelopmental disease
  JOURNAL   Brain 147 (4), 1197-1205 (2024)
   PUBMED   38141063
  REMARK    GeneRIF: Biallelic NUDT2 variants defective in mRNA decapping cause
            a neurodevelopmental disease.
REFERENCE   2  (bases 1 to 998)
  AUTHORS   Hidmi,S., Nechushtan,H., Razin,E. and Tshori,S.
  TITLE     Role of Nudt2 in Anchorage-Independent Growth and Cell Migration of
            Human Melanoma
  JOURNAL   Int J Mol Sci 24 (13), 10513 (2023)
   PUBMED   37445693
  REMARK    GeneRIF: Role of Nudt2 in Anchorage-Independent Growth and Cell
            Migration of Human Melanoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 998)
  AUTHORS   Laudenbach,B.T., Krey,K., Emslander,Q., Andersen,L.L., Reim,A.,
            Scaturro,P., Mundigl,S., Dachert,C., Manske,K., Moser,M.,
            Ludwig,J., Wohlleber,D., Kroger,A., Binder,M. and Pichlmair,A.
  TITLE     NUDT2 initiates viral RNA degradation by removal of 5'-phosphates
  JOURNAL   Nat Commun 12 (1), 6918 (2021)
   PUBMED   34824277
  REMARK    GeneRIF: NUDT2 initiates viral RNA degradation by removal of
            5'-phosphates.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 998)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 998)
  AUTHORS   Kwon,O., Kwak,D., Ha,S.H., Jeon,H., Park,M., Chang,Y., Suh,P.G. and
            Ryu,S.H.
  TITLE     Nudix-type motif 2 contributes to cancer proliferation through the
            regulation of Rag GTPase-mediated mammalian target of rapamycin
            complex 1 localization
  JOURNAL   Cell Signal 32, 24-35 (2017)
   PUBMED   28089905
  REMARK    GeneRIF: NUDT2 is a novel complex formation enhancing factor
            regulating mTORC1-Rag GTPase signaling that is crucial for cell
            growth control.
REFERENCE   6  (bases 1 to 998)
  AUTHORS   Thorne,N.M., Hankin,S., Wilkinson,M.C., Nunez,C., Barraclough,R.
            and McLennan,A.G.
  TITLE     Human diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase
            is a member of the MutT family of nucleotide pyrophosphatases
  JOURNAL   Biochem J 311 (Pt 3) (Pt 3), 717-721 (1995)
   PUBMED   7487923
REFERENCE   7  (bases 1 to 998)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   8  (bases 1 to 998)
  AUTHORS   Hankin,S., Matthew,N., Thorne,H. and McLennan,A.G.
  TITLE     Diadenosine 5',5''-P1,P4-tetraphosphate hydrolase is present in
            human erythrocytes, leukocytes and platelets
  JOURNAL   Int J Biochem Cell Biol 27 (2), 201-206 (1995)
   PUBMED   7767787
REFERENCE   9  (bases 1 to 998)
  AUTHORS   Lazewska,D., Starzynska,E. and Guranowski,A.
  TITLE     Human placental (Asymmetrical) diadenosine
            5',5'''-P1,P4-tetraphosphate hydrolase: purification to homogeneity
            and some properties
  JOURNAL   Protein Expr Purif 4 (1), 45-51 (1993)
   PUBMED   8381042
REFERENCE   10 (bases 1 to 998)
  AUTHORS   Pinto,R.M., Costas,M.J., Fernandez,A., Canales,J.,
            Garcia-Agundez,J.A. and Cameselle,J.C.
  TITLE     Dinucleoside tetraphosphatase from human blood cells. Purification
            and characterization as a high specific activity enzyme recognized
            by an anti-rat tetraphosphatase antibody
  JOURNAL   FEBS Lett 287 (1-2), 85-88 (1991)
   PUBMED   1652465
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AA398857.1, BG825757.1,
            AL356494.13 and BQ007098.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001161.4.
            
            Summary: This gene encodes a member of the MutT family of
            nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase
            family. The gene product possesses a modification of the MutT
            sequence motif found in certain nucleotide pyrophosphatases. The
            enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is
            responsible for maintaining the intracellular level of the
            dinucleotide Ap4A, the function of which has yet to be established.
            This gene may be a candidate tumor suppressor gene. Alternative
            splicing has been observed at this locus and four transcript
            variants, all encoding the same protein, have been identified.
            [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) is the full-length transcript.
            All four variants encode the same protein.
            
            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 :: SRR5189664.93506.1,
                                           SRR1163655.532760.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379158.7/ ENSP00000368455.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AA398857.1         64-75
            13-70               BG825757.1         2-59
            71-71               AL356494.13        2671-2671
            72-660              BG825757.1         61-649
            661-998             BQ007098.1         31-368              c
FEATURES             Location/Qualifiers
     source          1..998
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..998
                     /gene="NUDT2"
                     /gene_synonym="APAH1; IDDPN"
                     /note="nudix hydrolase 2"
                     /db_xref="GeneID:318"
                     /db_xref="HGNC:HGNC:8049"
                     /db_xref="MIM:602852"
     exon            1..31
                     /gene="NUDT2"
                     /gene_synonym="APAH1; IDDPN"
                     /inference="alignment:Splign:2.1.0"
     exon            32..144
                     /gene="NUDT2"
                     /gene_synonym="APAH1; IDDPN"
                     /inference="alignment:Splign:2.1.0"
     exon            145..279
                     /gene="NUDT2"
                     /gene_synonym="APAH1; IDDPN"
                     /inference="alignment:Splign:2.1.0"
     exon            280..422
                     /gene="NUDT2"
                     /gene_synonym="APAH1; IDDPN"
                     /inference="alignment:Splign:2.1.0"
     CDS             296..739
                     /gene="NUDT2"
                     /gene_synonym="APAH1; IDDPN"
                     /EC_number="3.6.1.17"
                     /note="Ap4A hydrolase 1;
                     bis(5'-nucleosyl)-tetraphosphatase (asymmetrical);
                     diadenosine tetraphosphatase; Ap4Aase; diadenosine
                     5',5''-P1,P4-tetraphosphate pyrophosphohydrolase; nudix
                     motif 2; nucleoside diphosphate-linked moiety X motif 2;
                     diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical
                     hydrolase; nudix (nucleoside diphosphate linked moiety
                     X)-type motif 2"
                     /codon_start=1
                     /product="bis(5'-nucleosyl)-tetraphosphatase
                     [asymmetrical]"
                     /protein_id="NP_001152.1"
                     /db_xref="CCDS:CCDS6552.1"
                     /db_xref="GeneID:318"
                     /db_xref="HGNC:HGNC:8049"
                     /db_xref="MIM:602852"
                     /translation="MALRACGLIIFRRCLIPKVDNNAIEFLLLQASDGIHHWTPPKGH
                     VEPGEDDLETALRETQEEAGIEAGQLTIIEGFKRELNYVARNKPKTVIYWLAEVKDYD
                     VEIRLSHEHQAYRWLGLEEACQLAQFKEMKAALQEGHQFLCSIEA"
     exon            423..998
                     /gene="NUDT2"
                     /gene_synonym="APAH1; IDDPN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      978..983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUDT2"
                     /gene_synonym="APAH1; IDDPN"
                     /note="hexamer: AATAAA"
     polyA_site      998
                     /gene="NUDT2"
                     /gene_synonym="APAH1; IDDPN"
                     /note="major polyA site"
ORIGIN      
        1 aaggtccgcc tcctacctcc ttctgcttcg gggagggcat gggatcagct acctgtttct
       61 gcctcaacca cggaccaata atatgagatc tttgttcacc agttctacag tgatggggtg
      121 cttccttttg gcttctggaa tgggtgcgtt tgcttctgag gatctccagt gtcacaacaa
      181 acacatgcca gccctgtttt acagggagcc ctggaggagt tgggatagag gccacattga
      241 ctgagggtag ttgccagggt cctgcagtta tacacaaagt ccttaggata agaccatggc
      301 cttgagagca tgtggcttga tcatcttccg aagatgcctc attcccaaag tggacaacaa
      361 tgcaattgag tttttactgc tgcaggcatc agatggcatt catcactgga ctcctcccaa
      421 aggccatgtg gaaccaggag aggatgactt ggaaacagcc ctgagggaga cccaagagga
      481 agcaggcata gaagcaggcc agctgaccat tattgagggg ttcaaaaggg aactcaatta
      541 tgtggccagg aacaagccta aaacagtcat ttactggctg gcggaggtga aggactatga
      601 cgtggagatc cgcctctccc atgagcacca agcctaccgc tggctggggc tggaggaggc
      661 ctgccagttg gctcagttca aggagatgaa ggcagcgctc caagaaggac accagtttct
      721 ttgctccata gaggcctgag ctgactggag cagagtcatt tgcttcagca ggatccttgt
      781 gggccttcta agatgaagcc accctcaggt ccagggaagg ttgtgctggt atttggctca
      841 tgacagccaa gagcagattt gtgaaatcgg ctcaactccc aggtgagagc aagcaaaaat
      901 cttggctggg tggaaaggaa ggcaaaagag taaaaattaa aaaggccagg cccagtaagt
      961 gtaccttgta ctttataaat aaacctcaag cagctcaa
//
