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    DNTT DNA nucleotidylexotransferase [ Homo sapiens (human) ]

    Gene ID: 1791, updated on 22-Apr-2024

    Summary

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    Official Symbol
    DNTTprovided by HGNC
    Official Full Name
    DNA nucleotidylexotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:2983
    See related
    Ensembl:ENSG00000107447 MIM:187410; AllianceGenome:HGNC:2983
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TDT
    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]
    Expression
    Restricted expression toward bone marrow (RPKM 10.1) See more
    Orthologs
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    Genomic context

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    See DNTT in Genome Data Viewer
    Location:
    10q24.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (96304434..96338564)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (97183742..97217862)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (98064191..98098321)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 518A Neighboring gene nucleophosmin 1 pseudogene 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:97981461-97981960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:97985105-97985605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3818 Neighboring gene uncharacterized LOC124902487 Neighboring gene B cell linker Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:97995995-97996494 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:98026632-98027831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3826 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98068473-98069311 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98069312-98070152 Neighboring gene NANOG hESC enhancer GRCh37_chr10:98084017-98084578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2653 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98104629-98105395 Neighboring gene oligodendrocytic myelin paranodal and inner loop protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98138703-98139212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98156871-98157399 Neighboring gene tolloid like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98201903-98202541 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98210491-98210992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98246593-98247092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:98262485-98262985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98265857-98266640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98271755-98272274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3827

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Prognostic implications of TdT expression in acute myeloid leukemia with an intermediate-risk karyotype. Saburi M, et al. Int J Hematol, 2020 Jul. PMID 32253665
    2. Terminal Deoxynucleotidyl Transferase (TdT)-negative Lymphoblastic Leukemia in Pediatric Patients: Incidence and Clinical Significance. Yasmeen S, et al. Pediatr Dev Pathol, 2017 Nov-Dec. PMID 29187045
    3. TdT expression in normal and neoplastic sebaceous cells. Tzorakoleftheraki SE, et al. Histopathology, 2017 Dec. PMID 28677299
    4. TdT-positive Infiltrate in Inflamed Pediatric Kidney: A Potential Diagnostic Pitfall. Dunlap JB, et al. Am J Surg Pathol, 2017 May. PMID 28248816
    5. Structural Basis for a New Templated Activity by Terminal Deoxynucleotidyl Transferase: Implications for V(D)J Recombination. Loc'h J, et al. Structure, 2016 Sep 6. PMID 27499438

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Terminal deoxynucleotidyl transferase expression in different subtypes of childhood B-cell acute lymphoblastic leukemia.
      Title: Terminal deoxynucleotidyl transferase expression in different subtypes of childhood B-cell acute lymphoblastic leukemia.
    2. DNA strand displacement and TdT-Mediated DNA extension for swift, convenient, and quantitative evaluation of sperm DNA integrity and its clinical implications.
      Title: DNA strand displacement and TdT-Mediated DNA extension for swift, convenient, and quantitative evaluation of sperm DNA integrity and its clinical implications.
    3. Terminal deoxynucleotidyl transferase (TdT) expression is associated with FLT3-ITD mutations in Acute Myeloid Leukemia.
      Title: Terminal deoxynucleotidyl transferase (TdT) expression is associated with FLT3-ITD mutations in Acute Myeloid Leukemia.
    4. Prognostic implications of TdT expression in acute myeloid leukemia with an intermediate-risk karyotype.
      Title: Prognostic implications of TdT expression in acute myeloid leukemia with an intermediate-risk karyotype.
    5. Terminal deoxynucleotidyl transferase promotes acute myeloid leukemia by priming FLT3-ITD replication slippage.
      Title: Terminal deoxynucleotidyl transferase promotes acute myeloid leukemia by priming FLT3-ITD replication slippage.
    6. Molecular roulette: nucleophosmin mutations in AML are orchestrated through N-nucleotide addition by TdT.
      Title: Molecular roulette: nucleophosmin mutations in AML are orchestrated through N-nucleotide addition by TdT.
    7. Data from one institution indicate that TdT-negative acute lymphoblastic leukemia (ALL) is not uncommon (14% of cases between 2005 and 2015) and that the lack of TdT and/or CD34 expression by flow cytometric analysis does not exclude the diagnosis of ALL.
      Title: Terminal Deoxynucleotidyl Transferase (TdT)-negative Lymphoblastic Leukemia in Pediatric Patients: Incidence and Clinical Significance.
    8. TdT protein can be found in cells of epithelial origin and specifically sebaceous cells, both benign and malignant.
      Title: TdT expression in normal and neoplastic sebaceous cells.
    9. Structural basis for a new templated activity by terminal deoxynucleotidyl transferase and implications for V(D)J recombination have been described.
      Title: Structural Basis for a New Templated Activity by Terminal Deoxynucleotidyl Transferase: Implications for V(D)J Recombination.
    10. TdT-positive cells may be part of the inflammatory milieu in infant kidneys.
      Title: TdT-positive Infiltrate in Inflamed Pediatric Kidney: A Potential Diagnostic Pitfall.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA nucleotidylexotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA nucleotidylexotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-directed DNA polymerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA modification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via nonhomologous end joining IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to ATP IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of euchromatin IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA nucleotidylexotransferase
    Names
    nucleosidetriphosphate:DNA deoxynucleotidylexotransferase
    terminal addition enzyme
    terminal deoxynucleotidyltransferase
    terminal deoxyribonucleotidyltransferase
    terminal transferase
    NP_001017520.1
    NP_004079.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001017520.2 → NP_001017520.1  DNA nucleotidylexotransferase isoform 2

      See identical proteins and their annotated locations for NP_001017520.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes an isoform (2), which is shorter than isoform 1.
      Source sequence(s)
      AK130771, AL136181, BC012920, DB110609
      Consensus CDS
      CCDS44465.1
      UniProtKB/Swiss-Prot
      P04053
      Related
      ENSP00000486733.1, ENST00000630152.1
      Conserved Domains (3) summary
      cd00141
      Location:166 → 506
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
      smart00292
      Location:32 → 111
      BRCT; breast cancer carboxy-terminal domain
      smart00483
      Location:163 → 507
      POLXc; DNA polymerase X family

    2. NM_004088.4 → NP_004079.3  DNA nucleotidylexotransferase isoform 1

      See identical proteins and their annotated locations for NP_004079.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL136181, BC012920, DB110609
      Consensus CDS
      CCDS7447.1
      UniProtKB/Swiss-Prot
      P04053, Q53FH1, Q5W103, Q96E50
      Related
      ENSP00000360216.2, ENST00000371174.5
      Conserved Domains (3) summary
      cd00141
      Location:166 → 507
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
      smart00292
      Location:32 → 111
      BRCT; breast cancer carboxy-terminal domain
      smart00483
      Location:163 → 508
      POLXc; DNA polymerase X family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      96304434..96338564
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      97183742..97217862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P04053.3 GenPept UniProtKB/Swiss-Prot:P04053

    Gene LinkOut

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