LOCUS       NM_020201               1581 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_020201
VERSION     NM_020201.4
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 1581)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1581)
  AUTHORS   Pachl,P., Fabry,M., Veverka,V., Brynda,J. and Rezacova,P.
  TITLE     Kinetic and structural characterization of an alternatively spliced
            variant of human mitochondrial 5'(3')-deoxyribonucleotidase
  JOURNAL   J Enzyme Inhib Med Chem 30 (1), 63-68 (2015)
   PUBMED   24506201
  REMARK    GeneRIF: An alternative splice variant of the mdN gene containing
            an 18-nucleotide insertion encoding 6 amino acids (GKWPAT) at the
            3'-end of the penultimate exon 4 has been characterized.
REFERENCE   3  (bases 1 to 1581)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1581)
  AUTHORS   Wallden,K., Ruzzenente,B., Rinaldo-Matthis,A., Bianchi,V. and
            Nordlund,P.
  TITLE     Structural basis for substrate specificity of the human
            mitochondrial deoxyribonucleotidase
  JOURNAL   Structure 13 (7), 1081-1088 (2005)
   PUBMED   16004879
  REMARK    GeneRIF: substrate specificity analysis of the human mitochondrial
            deoxyribonucleotidase
REFERENCE   5  (bases 1 to 1581)
  AUTHORS   Rinaldo-Matthis,A., Rampazzo,C., Reichard,P., Bianchi,V. and
            Nordlund,P.
  TITLE     Crystal structure of a human mitochondrial deoxyribonucleotidase
  JOURNAL   Nat Struct Biol 9 (10), 779-787 (2002)
   PUBMED   12352955
  REMARK    GeneRIF: structures of dNT-2 in complex with bound phosphate and
            beryllium trifluoride plus thymidine as model for a
            phosphoenzyme-product complex
REFERENCE   6  (bases 1 to 1581)
  AUTHORS   Gallinaro,L., Crovatto,K., Rampazzo,C., Pontarin,G., Ferraro,P.,
            Milanesi,E., Reichard,P. and Bianchi,V.
  TITLE     Human mitochondrial 5'-deoxyribonucleotidase. Overproduction in
            cultured cells and functional aspects
  JOURNAL   J Biol Chem 277 (38), 35080-35087 (2002)
   PUBMED   12124385
  REMARK    GeneRIF: Overproduction in cultured cells and functional aspects
REFERENCE   7  (bases 1 to 1581)
  AUTHORS   Rampazzo,C., Gallinaro,L., Milanesi,E., Frigimelica,E., Reichard,P.
            and Bianchi,V.
  TITLE     A deoxyribonucleotidase in mitochondria: involvement in regulation
            of dNTP pools and possible link to genetic disease
  JOURNAL   Proc Natl Acad Sci U S A 97 (15), 8239-8244 (2000)
   PUBMED   10899995
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL526346.3, AF210652.1 and
            BC035838.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020201.3.
            
            Summary: This gene encodes a 5' nucleotidase that localizes to the
            mitochondrial matrix. This enzyme dephosphorylates the 5'- and
            2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The
            gene is located within the Smith-Magenis syndrome region on
            chromosome 17. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035838.1, AF210652.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000389022.9/
                                                  ENSP00000373674.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-140               AL526346.3         8-147
            141-1045            AF210652.1         179-1083
            1046-1581           BC035838.1         1027-1562
FEATURES             Location/Qualifiers
     source          1..1581
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..1581
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /note="5',3'-nucleotidase, mitochondrial"
                     /db_xref="GeneID:56953"
                     /db_xref="HGNC:HGNC:15769"
                     /db_xref="MIM:605292"
     exon            1..445
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /inference="alignment:Splign:2.1.0"
     CDS             179..865
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /EC_number="3.1.3.5"
                     /note="5' nucleotidase, mitochondrial;
                     5(3)-deoxyribonucleotidase; deoxy-5'-nucleotidase 2;
                     5'(3')-deoxyribonucleotidase, mitochondrial; mitochondrial
                     5' nucleotidase"
                     /codon_start=1
                     /product="5'(3')-deoxyribonucleotidase, mitochondrial
                     precursor"
                     /protein_id="NP_064586.1"
                     /db_xref="CCDS:CCDS32581.1"
                     /db_xref="GeneID:56953"
                     /db_xref="HGNC:HGNC:15769"
                     /db_xref="MIM:605292"
                     /translation="MIRLGGWCARRLCSAAVPAGRRGAAGGLGLAGGRALRVLVDMDG
                     VLADFEGGFLRKFRARFPDQPFIALEDRRGFWVSEQYGRLRPGLSEKAISIWESKNFF
                     FELEPLPGAVEAVKEMASLQNTDVFICTSPIKMFKYCPYEKYAWVEKYFGPDFLEQIV
                     LTRDKTVVSADLLIDDRPDITGAEPTPSWEHVLFTACHNQHLQLQPPRRRLHSWADDW
                     KAILDSKRPC"
     exon            446..546
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /inference="alignment:Splign:2.1.0"
     exon            547..607
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /inference="alignment:Splign:2.1.0"
     exon            608..722
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /inference="alignment:Splign:2.1.0"
     exon            723..1581
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1553..1558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /note="hexamer: AATAAA"
     polyA_site      1581
                     /gene="NT5M"
                     /gene_synonym="dNT-2; dNT2; mdN"
                     /note="major polyA site"
ORIGIN      
        1 gctctggggc cggtacttgc gcgcccgcac cccgcgctcc ccgccccgct ccccgtcccg
       61 cgctccacgc gcgccccagc gttgggggct tctcctccgc ggcgggaatg tctggccggc
      121 tccggcagca cggcgcggcc caggtccccg cgcccacgac gggccagcgc gctgggccat
      181 gatccggctg ggcggctggt gtgcgcggcg gctctgcagc gcggcggttc ccgcggggcg
      241 gcgcggggcg gcgggcgggc tgggcctggc gggaggccgc gccctacggg tgctggtgga
      301 catggacggc gtgctggctg acttcgaggg cggattcctc aggaagttcc gcgcgcgctt
      361 tcccgaccag cccttcatcg cgctggagga ccggcgcggc ttctgggtgt cggagcagta
      421 cggccgcctg cggccagggc tgagcgagaa ggccatcagc atttgggagt caaagaattt
      481 cttttttgaa cttgagcctc tgccaggggc cgtggaagct gtcaaggaga tggccagcct
      541 acaaaacact gacgtcttca tctgcacaag ccccatcaag atgttcaagt actgtcccta
      601 tgagaagtat gcctgggtgg agaagtactt tggccctgac tttctggagc agattgtgct
      661 gaccagagac aagaccgtgg tctctgctga ccttctcata gacgaccggc cggacatcac
      721 aggggccgag ccaaccccca gctgggagca tgtcctcttc accgcctgcc acaaccagca
      781 cctgcagctg cagccccccc gccgcaggct gcactcgtgg gcggacgact ggaaggccat
      841 tctggacagc aagcggccct gctgagctgg actgtgcttc gggctcctct gtggggctct
      901 gacctcaggg ctcccagctc ggggcctgtg gggccagtat gctggtctgg gagtccctcc
      961 tagactcctg ggccccatga cctcctgctg catgtccctt cccttcccca gccctgccag
     1021 gccttaacct gatcacgggg cagggctggg ccctctgggc gcttggacat agacacgtgg
     1081 tcccaggccg ttcagcctga cctcaggcag caggcaccaa gctgccagaa gcccaggggc
     1141 tcaggacagg gaggagttga ggccactgtt cagggggctg gtggccgtct ccactcccta
     1201 ggcaagttct ctgaggcaga agggggttcc ctgttcccag agtctgcagc catcagcaag
     1261 gaggaccagg aacccggcga ctgaggtgct tccaggtggg gacaagcccc tcttggtctc
     1321 agccacagca ccccttattc cagctgccct gcccaacctg ctcaccccac atgaccttct
     1381 gtgtattcag caaacactca ctaggtgaca gcggccacca ggctctgtgc tgggggacga
     1441 tactggccct ggcctcgacc agcttagagg tttctcacac ctctgttccc agggccccgc
     1501 tcagggccca gcagagagtc cgtaggcttg aacatgtgtt gagtgcatga aaaataaatg
     1561 ctgttcatgt gtgtagctca a
//
