LOCUS       NM_004088               1934 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens DNA nucleotidylexotransferase (DNTT), transcript
            variant 1, mRNA.
ACCESSION   NM_004088
VERSION     NM_004088.4
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 1934)
  AUTHORS   Ukladov,E.O., Tyugashev,T.E. and Kuznetsov,N.A.
  TITLE     Computational Modeling Study of the Molecular Basis of dNTP
            Selectivity in Human Terminal Deoxynucleotidyltransferase
  JOURNAL   Biomolecules 14 (8), 961 (2024)
   PUBMED   39199349
  REMARK    GeneRIF: Computational Modeling Study of the Molecular Basis of
            dNTP Selectivity in Human Terminal Deoxynucleotidyltransferase.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1934)
  AUTHORS   Kim,Y., Calderon,A.A., Favaro,P., Glass,D.R., Tsai,A.G., Ho,D.,
            Borges,L., Greenleaf,W.J. and Bendall,S.C.
  TITLE     Terminal deoxynucleotidyl transferase and CD84 identify human
            multi-potent lymphoid progenitors
  JOURNAL   Nat Commun 15 (1), 5910 (2024)
   PUBMED   39003273
  REMARK    GeneRIF: Terminal deoxynucleotidyl transferase and CD84 identify
            human multi-potent lymphoid progenitors.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1934)
  AUTHORS   Yu,C.H., Su,Y.H., Jou,S.T., Lu,M.Y., Lin,C.Y., Lin,K.H.,
            Chang,H.H., Chou,S.W., Huang,Y.H., Lin,D.T., Lin,S.W., Chen,H.Y.,
            Chang,Y.H. and Yang,Y.L.
  TITLE     Terminal deoxynucleotidyl transferase expression in different
            subtypes of childhood B-cell acute lymphoblastic leukemia
  JOURNAL   Pathol Res Pract 256, 155287 (2024)
   PUBMED   38579576
  REMARK    GeneRIF: Terminal deoxynucleotidyl transferase expression in
            different subtypes of childhood B-cell acute lymphoblastic
            leukemia.
REFERENCE   4  (bases 1 to 1934)
  AUTHORS   Yan,B., Fan,H., Ji,H., Li,S., Hu,H., Gu,X., Jia,S., Liu,Y., Guo,J.,
            Yang,Z., Zhou,L., Xiao,X., Li,L. and Mao,Z.
  TITLE     DNA strand displacement and TdT-Mediated DNA extension for swift,
            convenient, and quantitative evaluation of sperm DNA integrity and
            its clinical implications
  JOURNAL   Anal Chim Acta 1280, 341821 (2023)
   PUBMED   37858544
  REMARK    GeneRIF: DNA strand displacement and TdT-Mediated DNA extension for
            swift, convenient, and quantitative evaluation of sperm DNA
            integrity and its clinical implications.
REFERENCE   5  (bases 1 to 1934)
  AUTHORS   Koiwai,O. and Morita,A.
  TITLE     Isolation of putative promoter region for human terminal
            deoxynucleotidyltransferase gene
  JOURNAL   Biochem Biophys Res Commun 154 (1), 91-100 (1988)
   PUBMED   3395350
REFERENCE   6  (bases 1 to 1934)
  AUTHORS   Riley,L.K., Morrow,J.K., Danton,M.J. and Coleman,M.S.
  TITLE     Human terminal deoxyribonucleotidyltransferase: molecular cloning
            and structural analysis of the gene and 5' flanking region
  JOURNAL   Proc Natl Acad Sci U S A 85 (8), 2489-2493 (1988)
   PUBMED   2833741
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1988 Nov;85(21):7987]
REFERENCE   7  (bases 1 to 1934)
  AUTHORS   Koiwai,O., Kaneda,T. and Morishita,R.
  TITLE     Analysis of human terminal deoxynucleotidyl transferase cDNA
            expressible in mammalian cells
  JOURNAL   Biochem Biophys Res Commun 144 (1), 185-190 (1987)
   PUBMED   3579900
REFERENCE   8  (bases 1 to 1934)
  AUTHORS   Chang,L.M. and Bollum,F.J.
  TITLE     Molecular biology of terminal transferase
  JOURNAL   CRC Crit Rev Biochem 21 (1), 27-52 (1986)
   PUBMED   3524991
  REMARK    Review article
REFERENCE   9  (bases 1 to 1934)
  AUTHORS   Yang-Feng,T.L., Landau,N.R., Baltimore,D. and Francke,U.
  TITLE     The terminal deoxynucleotidyltransferase gene is located on human
            chromosome 10 (10q23----q24) and on mouse chromosome 19
  JOURNAL   Cytogenet Cell Genet 43 (3-4), 121-126 (1986)
   PUBMED   3467897
REFERENCE   10 (bases 1 to 1934)
  AUTHORS   Peterson,R.C., Cheung,L.C., Mattaliano,R.J., White,S.T., Chang,L.M.
            and Bollum,F.J.
  TITLE     Expression of human terminal deoxynucleotidyl transferase in
            Escherichia coli
  JOURNAL   J Biol Chem 260 (19), 10495-10502 (1985)
   PUBMED   2863268
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB110609.1, BC012920.1 and
            AL136181.13.
            
            On Nov 22, 2018 this sequence version replaced NM_004088.3.
            
            Summary: This gene is a member of the DNA polymerase type-X family
            and encodes a template-independent DNA polymerase that catalyzes
            the addition of deoxynucleotides to the 3'-hydroxyl terminus of
            oligonucleotide primers. In vivo, the encoded protein is expressed
            in a restricted population of normal and malignant pre-B and pre-T
            lymphocytes during early differentiation, where it generates
            antigen receptor diversity by synthesizing non-germ line elements
            (N-regions) at the junctions of rearranged Ig heavy chain and T
            cell receptor gene segments. Alternatively spliced transcript
            variants encoding different isoforms of this gene have been
            described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            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 :: ERR279858.4606.1, AB046378.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2152719
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371174.5/ ENSP00000360216.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DB110609.1         107-127
            22-285              BC012920.1         1-264
            286-398             AL136181.13        38764-38876
            399-1934            BC012920.1         378-1913
FEATURES             Location/Qualifiers
     source          1..1934
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     gene            1..1934
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /note="DNA nucleotidylexotransferase"
                     /db_xref="GeneID:1791"
                     /db_xref="HGNC:HGNC:2983"
                     /db_xref="MIM:187410"
     exon            1..267
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..1594
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /EC_number="2.7.7.31"
                     /note="isoform 1 is encoded by transcript variant 1;
                     terminal transferase; terminal addition enzyme; terminal
                     deoxyribonucleotidyltransferase;
                     nucleosidetriphosphate:DNA deoxynucleotidylexotransferase;
                     terminal deoxynucleotidyltransferase"
                     /codon_start=1
                     /product="DNA nucleotidylexotransferase isoform 1"
                     /protein_id="NP_004079.3"
                     /db_xref="CCDS:CCDS7447.1"
                     /db_xref="GeneID:1791"
                     /db_xref="HGNC:HGNC:2983"
                     /db_xref="MIM:187410"
                     /translation="MDPPRASHLSPRKKRPRQTGALMASSPQDIKFQDLVVFILEKKM
                     GTTRRAFLMELARRKGFRVENELSDSVTHIVAENNSGSDVLEWLQAQKVQVSSQPELL
                     DVSWLIECIRAGKPVEMTGKHQLVVRRDYSDSTNPGPPKTPPIAVQKISQYACQRRTT
                     LNNCNQIFTDAFDILAENCEFRENEDSCVTFMRAASVLKSLPFTIISMKDTEGIPCLG
                     SKVKGIIEEIIEDGESSEVKAVLNDERYQSFKLFTSVFGVGLKTSEKWFRMGFRTLSK
                     VRSDKSLKFTRMQKAGFLYYEDLVSCVTRAEAEAVSVLVKEAVWAFLPDAFVTMTGGF
                     RRGKKMGHDVDFLITSPGSTEDEEQLLQKVMNLWEKKGLLLYYDLVESTFEKLRLPSR
                     KVDALDHFQKCFLIFKLPRQRVDSDQSSWQEGKTWKAIRVDLVLCPYERRAFALLGWT
                     GSRQFERDLRRYATHERKMILDNHALYDKTKRIFLKAESEEEIFAHLGLDYIEPWERN
                     A"
     exon            268..442
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     exon            443..571
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     exon            572..742
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     exon            743..814
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     exon            815..938
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1071
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     exon            1072..1177
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1423
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1507
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     exon            1508..1934
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1914..1919
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /note="hexamer: AATAAA"
     polyA_site      1934
                     /gene="DNTT"
                     /gene_synonym="TDT"
                     /note="major polyA site"
ORIGIN      
        1 agtctccctc ccttctggag acaccaccag atgggccagc cagaggcagc agcagcctct
       61 tcccatggat ccaccacgag cgtcccactt gagccctcgg aagaagagac cccggcagac
      121 gggtgccttg atggcctcct ctcctcaaga catcaaattt caagatttgg tcgtcttcat
      181 tttggagaag aaaatgggaa ccacccgcag agcgttcctc atggagctgg cccgcaggaa
      241 agggttcagg gttgaaaatg agctcagtga ttctgtcacc cacatcgtag cagagaacaa
      301 ctcgggttcg gatgttctgg agtggcttca agcacagaaa gtacaagtca gctcacaacc
      361 agagctcctc gatgtctcct ggctgatcga atgcataaga gcagggaaac cggtggaaat
      421 gacaggaaaa caccagcttg ttgtgagaag agactattca gatagcacca acccaggccc
      481 cccgaagact ccaccaattg ctgtacaaaa gatctcccag tatgcgtgtc agagaagaac
      541 cactttaaac aactgtaacc agatattcac ggatgccttt gatatactgg ctgaaaactg
      601 tgagtttaga gaaaatgaag actcctgtgt gacatttatg agagcagctt ctgtattgaa
      661 atctctgcca ttcacaatca tcagtatgaa ggacacagaa ggaattccct gcctggggtc
      721 caaggtgaag ggtatcatag aggagattat tgaagatgga gaaagttctg aagttaaagc
      781 tgtgttaaat gatgaacgat atcaatcctt caaactcttt acttctgtat ttggagtggg
      841 gctgaagact tctgagaagt ggttcaggat gggtttcaga actctgagta aagtaaggtc
      901 ggacaaaagc ctgaaattta cacgaatgca gaaagcagga tttctgtatt atgaagacct
      961 tgtcagctgt gtgaccaggg cagaagcaga ggccgtcagt gtgctggtta aagaggctgt
     1021 ctgggcattt cttccggatg ctttcgtcac catgacagga gggttccgga ggggtaagaa
     1081 gatggggcat gatgtagatt ttttaattac cagcccagga tcaacagagg atgaagagca
     1141 acttttacag aaagtgatga acttatggga aaagaaggga ttacttttat attatgacct
     1201 tgtggagtca acatttgaaa agctcaggtt gcctagcagg aaggttgatg ctttggatca
     1261 ttttcaaaag tgctttctga ttttcaaatt gcctcgtcaa agagtggaca gtgaccagtc
     1321 cagctggcag gaaggaaaga cctggaaggc catccgtgtg gatttagttc tgtgccccta
     1381 cgagcgtcgt gcctttgccc tgttgggatg gactggctcc cggcagtttg agagagacct
     1441 ccggcgctat gccacacatg agcggaagat gattctggat aaccatgctt tatatgacaa
     1501 gaccaagagg atattcctca aagcagaaag tgaagaagaa atttttgcgc atctgggatt
     1561 ggattatatt gaaccgtggg aaagaaatgc ctaggaaagt gttgtcaaca tttttttcct
     1621 attcttttca agttaaataa attatgcttc atattagtaa aagatgccat aggagagttt
     1681 ggggttattt aggtcttatt gaaatgcaga ttgctactag aaataaataa ctttggaaac
     1741 atgggaaggt gccactggta atgggtaagg ttctaatagg ccatgtttat gactgttgca
     1801 tagaattcac aatgcatttt tcaagagaaa tgatgttgtc actggtggct cattcaggga
     1861 agctcatcaa agcccacttt gttcgcagtg tagctgaaat actgtctatc tctaataaaa
     1921 acaggaggaa acaa
//
