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DNTT DNA nucleotidylexotransferase [ Homo sapiens (human) ]

Gene ID: 1791, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (96304434..96338564)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (97183742..97217862)
RS_2024_09 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 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. TdT-positive Infiltrate in Inflamed Pediatric Kidney: A Potential Diagnostic Pitfall. Dunlap JB, et al. Am J Surg Pathol, 2017 May. PMID 28248816
  2. Distinct and opposite activities of human terminal deoxynucleotidyltransferase splice variants. Thai TH, et al. J Immunol, 2004 Sep 15. PMID 15356150
  3. Nonpositive terminal deoxynucleotidyl transferase in pediatric precursor B-lymphoblastic leukemia. Liu L, et al. Am J Clin Pathol, 2004 Jun. PMID 15198352
  4. Terminal deoxynucleotidyl transferase-positive cells in spleen, appendix and branchial cleft cysts in pediatric patients. O'Malley DP, et al. Haematologica, 2006 Aug. PMID 16885057
  5. Four-color flow cytometric investigation of terminal deoxynucleotidyl transferase-positive lymphoid precursors in pediatric bone marrow: CD79a expression precedes CD19 in early B-cell ontogeny. Dworzak MN, et al. Blood, 1998 Nov 1. PMID 9787156

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Computational Modeling Study of the Molecular Basis of dNTP Selectivity in Human Terminal Deoxynucleotidyltransferase.
    Title: Computational Modeling Study of the Molecular Basis of dNTP Selectivity in Human Terminal Deoxynucleotidyltransferase.
  2. Terminal deoxynucleotidyl transferase and CD84 identify human multi-potent lymphoid progenitors.
    Title: Terminal deoxynucleotidyl transferase and CD84 identify human multi-potent lymphoid progenitors.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (19)

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
  
located_in 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

    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

    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_2024_08

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

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