LOCUS       NM_014595                901 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens 5', 3'-nucleotidase, cytosolic (NT5C), transcript
            variant 1, mRNA.
ACCESSION   NM_014595
VERSION     NM_014595.3
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 901)
  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 901)
  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   3  (bases 1 to 901)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 901)
  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   5  (bases 1 to 901)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   6  (bases 1 to 901)
  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
REFERENCE   7  (bases 1 to 901)
  AUTHORS   Rampazzo,C., Johansson,M., Gallinaro,L., Ferraro,P., Hellman,U.,
            Karlsson,A., Reichard,P. and Bianchi,V.
  TITLE     Mammalian 5'(3')-deoxyribonucleotidase, cDNA cloning, and
            overexpression of the enzyme in Escherichia coli and mammalian
            cells
  JOURNAL   J Biol Chem 275 (8), 5409-5415 (2000)
   PUBMED   10681516
REFERENCE   8  (bases 1 to 901)
  AUTHORS   Hoglund,L. and Reichard,P.
  TITLE     Cytoplasmic 5'(3')-nucleotidase from human placenta
  JOURNAL   J Biol Chem 265 (12), 6589-6595 (1990)
   PUBMED   2157703
REFERENCE   9  (bases 1 to 901)
  AUTHORS   Xu,W.M., Gorman,P.A., Rider,S.H., Hedge,P.J., Moore,G.,
            Prichard,C., Sheer,D. and Solomon,E.
  TITLE     Construction of a genetic map of human chromosome 17 by use of
            chromosome-mediated gene transfer
  JOURNAL   Proc Natl Acad Sci U S A 85 (22), 8563-8567 (1988)
   PUBMED   3186746
REFERENCE   10 (bases 1 to 901)
  AUTHORS   Wilson,D.E., Swallow,D.M. and Povey,S.
  TITLE     Assignment of the human gene for uridine 5'-monophosphate
            phosphohydrolase (UMPH2) to the long arm of chromosome 17
  JOURNAL   Ann Hum Genet 50 (3), 223-227 (1986)
   PUBMED   2833155
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF154829.2.
            
            On Nov 23, 2018 this sequence version replaced NM_014595.2.
            
            Summary: This gene encodes a nucleotidase that catalyzes the
            dephosphorylation of the 5' deoxyribonucleotides (dNTP) and
            2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the
            different forms of nucleotidases characterized, this enzyme is
            unique in its preference for 5'-dNTP. It may be one of the enzymes
            involved in regulating the size of dNTP pools in cells.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes the longer isoform (1).
            
            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 :: BC017454.1, AF154829.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245552.7/ ENSP00000245552.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-901               AF154829.2         41-941
FEATURES             Location/Qualifiers
     source          1..901
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..901
                     /gene="NT5C"
                     /gene_synonym="cdN; DNT; dNT-1; DNT1; HEL74; P5N2; PN-I;
                     PN-II; UMPH2"
                     /note="5', 3'-nucleotidase, cytosolic"
                     /db_xref="GeneID:30833"
                     /db_xref="HGNC:HGNC:17144"
                     /db_xref="MIM:191720"
     exon            1..209
                     /gene="NT5C"
                     /gene_synonym="cdN; DNT; dNT-1; DNT1; HEL74; P5N2; PN-I;
                     PN-II; UMPH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..641
                     /gene="NT5C"
                     /gene_synonym="cdN; DNT; dNT-1; DNT1; HEL74; P5N2; PN-I;
                     PN-II; UMPH2"
                     /EC_number="3.1.3.5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uridine 5'-monophosphate phosphohydrolase 2; uridine
                     5-prime monophosphate hydrolase 2; 5' nucleotidase, deoxy
                     (pyrimidine), cytosolic type C;
                     5'(3')-deoxyribonucleotidase, cytosolic type;
                     deoxy-5'-nucleotidase 1; cytosolic 5',3'-pyrimidine
                     nucleotidase; epididymis luminal protein 74; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="5'(3')-deoxyribonucleotidase, cytosolic type
                     isoform 1"
                     /protein_id="NP_055410.1"
                     /db_xref="CCDS:CCDS11715.1"
                     /db_xref="GeneID:30833"
                     /db_xref="HGNC:HGNC:17144"
                     /db_xref="MIM:191720"
                     /translation="MARSVRVLVDMDGVLADFEAGLLRGFRRRFPEEPHVPLEQRRGF
                     LAREQYRALRPDLADKVASVYEAPGFFLDLEPIPGALDAVREMNDLPDTQVFICTSPL
                     LKYHHCVGEKYRWVEQHLGPQFVERIILTRDKTVVLGDLLIDDKDTVRGQEETPSWEH
                     ILFTCCHNRHLVLPPTRRRLLSWSDNWREILDSKRGAAQRE"
     exon            210..310
                     /gene="NT5C"
                     /gene_synonym="cdN; DNT; dNT-1; DNT1; HEL74; P5N2; PN-I;
                     PN-II; UMPH2"
                     /inference="alignment:Splign:2.1.0"
     exon            311..371
                     /gene="NT5C"
                     /gene_synonym="cdN; DNT; dNT-1; DNT1; HEL74; P5N2; PN-I;
                     PN-II; UMPH2"
                     /inference="alignment:Splign:2.1.0"
     exon            372..486
                     /gene="NT5C"
                     /gene_synonym="cdN; DNT; dNT-1; DNT1; HEL74; P5N2; PN-I;
                     PN-II; UMPH2"
                     /inference="alignment:Splign:2.1.0"
     exon            487..901
                     /gene="NT5C"
                     /gene_synonym="cdN; DNT; dNT-1; DNT1; HEL74; P5N2; PN-I;
                     PN-II; UMPH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      880..885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NT5C"
                     /gene_synonym="cdN; DNT; dNT-1; DNT1; HEL74; P5N2; PN-I;
                     PN-II; UMPH2"
                     /note="hexamer: AATAAA"
     polyA_site      901
                     /gene="NT5C"
                     /gene_synonym="cdN; DNT; dNT-1; DNT1; HEL74; P5N2; PN-I;
                     PN-II; UMPH2"
                     /note="major polyA site"
ORIGIN      
        1 agaccccgag agctcgcagc tccggcccgg cggcgatggc gcggagcgtg cgcgtgctgg
       61 tggacatgga cggcgtcctg gccgacttcg aggccggcct cctgcggggc ttccgccgcc
      121 gcttccctga ggagccgcac gtgccgctgg agcaacgccg cggcttcctg gcccgcgagc
      181 agtaccgcgc cctgcggccc gacctggcgg ataaagtggc cagtgtgtac gaagccccgg
      241 gctttttcct ggacctggag cccatcccgg gagccttgga cgctgtgcgg gagatgaacg
      301 acctaccgga cacgcaggtc ttcatctgca ccagccccct gctgaagtac caccactgtg
      361 tgggtgagaa gtaccgctgg gtggagcagc acctggggcc ccagttcgta gaacgaatta
      421 tcctgacaag ggacaagacg gtggtcttgg gggacctgct cattgatgac aaggacacag
      481 ttcgaggcca ggaggagacc ccaagctggg agcacatctt gttcacctgc tgccacaatc
      541 ggcacctggt cctgcccccg acaaggagac ggctgctctc ctggagtgac aactggaggg
      601 agatcttaga tagcaagcgc ggagctgcgc agcgggaatg agcggggatg ccgcgggcag
      661 cagctggagc taaaggaagg gcaggcccac aggggccacc gcagagccga gtcggggcgg
      721 catcgtgctg gtgcctctgg ccccgtggag tggagcaggc agataccgtt aagcgctgtg
      781 ctaccgggcc ccaggcccag ccacccggta cctcccgaga ggctgtccct ggaccctggc
      841 tggcatggaa atacagtggg aaaaccagtc gggaccttta ataaaagacc ttggctttct
      901 a
//
