LOCUS       NM_001002010            1667 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens 5'-nucleotidase, cytosolic IIIA (NT5C3A), transcript
            variant 1, mRNA.
ACCESSION   NM_001002010
VERSION     NM_001002010.5
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 1667)
  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 1667)
  AUTHORS   Li,Y., Zhao,X., Hu,X.R., Li,J.P., Xiong,Y.Z., Sun,X.X., Ye,L.,
            Yang,Y., Li,Y., Yang,W.R., Peng,G.X., Fan,H.H., Zhou,K., Jing,L.P.,
            Zhang,F.K. and Zhang,L.
  TITLE     [Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A associated
            with hereditary pyrimidine 5'-nucleotidase deficiency: two cases
            report and literature review]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 42 (8), 680-682 (2021)
   PUBMED   34547876
  REMARK    GeneRIF: [Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A
            associated with hereditary pyrimidine 5'-nucleotidase deficiency:
            two cases report and literature review].
            Review article
REFERENCE   3  (bases 1 to 1667)
  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   4  (bases 1 to 1667)
  AUTHORS   Aksoy,P., Zhu,M.J., Kalari,K.R., Moon,I., Pelleymounter,L.L.,
            Eckloff,B.W., Wieben,E.D., Yee,V.C., Weinshilboum,R.M. and Wang,L.
  TITLE     Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and
            functional genomics
  JOURNAL   Pharmacogenet Genomics 19 (8), 567-576 (2009)
   PUBMED   19623099
  REMARK    GeneRIF: genetic variation in NT5C3 might affect protein function
            and potentially influence drug response
REFERENCE   5  (bases 1 to 1667)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   6  (bases 1 to 1667)
  AUTHORS   Marinaki,A.M., Escuredo,E., Duley,J.A., Simmonds,H.A., Amici,A.,
            Naponelli,V., Magni,G., Seip,M., Ben-Bassat,I., Harley,E.H.,
            Thein,S.L. and Rees,D.C.
  TITLE     Genetic basis of hemolytic anemia caused by pyrimidine 5'
            nucleotidase deficiency
  JOURNAL   Blood 97 (11), 3327-3332 (2001)
   PUBMED   11369620
REFERENCE   7  (bases 1 to 1667)
  AUTHORS   Amici,A., Emanuelli,M., Raffaelli,N., Ruggieri,S., Saccucci,F. and
            Magni,G.
  TITLE     Human erythrocyte pyrimidine 5-nucleotidase, PN-I, is identical to
            p36, a protein associated to lupus inclusion formation in response
            to alpha-interferon
  JOURNAL   Blood 96 (4), 1596-1598 (2000)
   PUBMED   10942414
REFERENCE   8  (bases 1 to 1667)
  AUTHORS   Amici,A., Emanuelli,M., Magni,G., Raffaelli,N. and Ruggieri,S.
  TITLE     Pyrimidine nucleotidases from human erythrocyte possess
            phosphotransferase activities specific for pyrimidine nucleotides
  JOURNAL   FEBS Lett 419 (2-3), 263-267 (1997)
   PUBMED   9428647
REFERENCE   9  (bases 1 to 1667)
  AUTHORS   Rich,S.A., Bose,M., Tempst,P. and Rudofsky,U.H.
  TITLE     Purification, microsequencing, and immunolocalization of p36, a new
            interferon-alpha-induced protein that is associated with human
            lupus inclusions
  JOURNAL   J Biol Chem 271 (2), 1118-1126 (1996)
   PUBMED   8557639
REFERENCE   10 (bases 1 to 1667)
  AUTHORS   Amici,A., Emanuelli,M., Ferretti,E., Raffaelli,N., Ruggieri,S. and
            Magni,G.
  TITLE     Homogeneous pyrimidine nucleotidase from human erythrocytes:
            enzymic and molecular properties
  JOURNAL   Biochem J 304 (Pt 3) (Pt 3), 987-992 (1994)
   PUBMED   7818506
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY012697.1, AK290118.1,
            AF151067.1 and AA482595.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_001002010.4.
            
            Summary: This gene encodes a member of the 5'-nucleotidase family
            of enzymes that catalyze the dephosphorylation of nucleoside
            5'-monophosphates. The encoded protein is the type 1 isozyme of
            pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of
            pyrimidine 5' monophosphates. Mutations in this gene are a cause of
            hemolytic anemia due to uridine 5-prime monophosphate hydrolase
            deficiency. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene, and pseudogenes
            of this gene are located on the long arm of chromosomes 3 and 4.
            [provided by RefSeq, Mar 2012].
            
            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 :: AF151067.1, AK290118.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000610140.7/
                                                ENSP00000476480.2
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                HY012697.1         48-69
            23-1291             AK290118.1         1-1269
            1292-1319           AF151067.1         1154-1181
            1320-1667           AA482595.1         40-387              c
FEATURES             Location/Qualifiers
     source          1..1667
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..1667
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /note="5'-nucleotidase, cytosolic IIIA"
                     /db_xref="GeneID:51251"
                     /db_xref="HGNC:HGNC:17820"
                     /db_xref="MIM:606224"
     exon            1..209
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..1067
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /EC_number="3.1.3.5"
                     /EC_number="3.1.3.91"
                     /note="isoform 1 is encoded by transcript variant 1;
                     pyrimidine 5'-nucleotidase 1; cytosolic 5'-nucleotidase 3;
                     uridine 5'-monophosphate hydrolase 1; lupin;
                     5'-nucleotidase, cytosolic III; cytosolic 5'-nucleotidase
                     3A; 7-methylguanosine phosphate-specific 5'-nucleotidase"
                     /codon_start=1
                     /product="cytosolic 5'-nucleotidase 3A isoform 1"
                     /protein_id="NP_001002010.2"
                     /db_xref="CCDS:CCDS34616.2"
                     /db_xref="GeneID:51251"
                     /db_xref="HGNC:HGNC:17820"
                     /db_xref="MIM:606224"
                     /translation="MDRAAVARVGAVASASVCALVAGVVLAQYIFTLKRKTGRKTKII
                     EMMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCH
                     NIIDNCKLVTDECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQAL
                     PKAKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLEEVIRQAGVYHPN
                     VKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGD
                     LRMADGVANVEHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL"
     exon            210..308
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            309..378
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            379..425
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            426..511
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            512..601
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            602..764
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            765..965
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1667
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1639..1644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /note="hexamer: AATAAA"
     polyA_site      1667
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; CNSHA8; hUMP1; NT5C3; p36; P5'N-1;
                     P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1"
                     /note="major polyA site"
ORIGIN      
        1 gcttccgaga ctcgcagtct acgcgagctg cctgtttttt tcctgcttgg acgcgcatga
       61 gggccccgtc catggaccgc gcggccgtgg cgagggtggg cgcggtagcg agcgccagcg
      121 tgtgcgccct ggtggcgggg gtggtgctgg ctcagtacat attcaccttg aagaggaaga
      181 cggggcggaa gaccaagatc atcgagatga tgccagaatt ccagaaaagt tcagttcgaa
      241 tcaagaaccc tacaagagta gaagaaatta tctgtggtct tatcaaagga ggagctgcca
      301 aacttcagat aataacggac tttgatatga cactcagtag attttcatat aaagggaaaa
      361 gatgcccaac atgtcataat atcattgaca actgtaagct ggttacagat gaatgtagaa
      421 aaaagttatt gcaactaaag gaaaaatatt acgctattga agttgatcct gttcttactg
      481 tagaagagaa gtacccttat atggtggaat ggtatactaa atcacatggt ttgcttgttc
      541 agcaagcttt accaaaagct aaacttaaag aaattgtggc agaatctgac gttatgctca
      601 aagaaggata tgagaatttc tttgataagc tccaacaaca tagcatcccc gtgttcatat
      661 tttcggctgg aatcggcgat gtactagagg aagttattcg tcaagctggt gtttatcatc
      721 ccaatgtcaa agttgtgtcc aattttatgg attttgatga aactggggtg ctcaaaggat
      781 ttaaaggaga actaattcat gtatttaaca aacatgatgg tgccttgagg aatacagaat
      841 atttcaatca actaaaagac aatagtaaca taattcttct gggagactcc caaggagact
      901 taagaatggc agatggagtg gccaatgttg agcacattct gaaaattgga tatctaaatg
      961 atagagtgga tgagctttta gaaaagtaca tggactctta tgatattgtt ttagtacaag
     1021 atgaatcatt agaagtagcc aactctattt tacagaagat tctataaaca agcattctcc
     1081 aagaagacct ctctcctgtg ggtgcaattg aactgttcat ccgttcatct tgctgagaga
     1141 cttatttata atatatcctt actctcgaag tgttcccttt gtataactga agtattttca
     1201 gatatggtga atgcattgac tggaagctcc ttttctccac ctctctcaac acactcctca
     1261 ccgtatcttt taacccattt aaaaaaaaaa aaaagctaaa attagaaaaa taactcccta
     1321 cttttccaaa gtgaattttg tagtttaatg ttatcatgca gcttttgagg agtcttttac
     1381 actgggaaag tttgtagaaa ttttaaaata agttttatga aatggtgaaa taatatgcat
     1441 gattttaagt attgccattt ttgtaatttg ggttattatg ctgatggtat caccatctct
     1501 tgaaattgtg ttaggtttgg ttattttgtc tggggaaaaa atatttactg gaaaagacta
     1561 gcagttagtg ttggaaaaac ctggtggtgt ttacaatgtt gctaatcatt acaaaacatt
     1621 ctatattgaa gcactgataa taaatatgaa atgcaaaacc tttttaa
//
