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Aliases for DNTT Gene

Aliases for DNTT Gene

  • DNA Nucleotidylexotransferase 2 3 3 5
  • Terminal Deoxynucleotidyltransferase 2 3 4
  • Terminal Addition Enzyme 3 4
  • Terminal Transferase 3 4
  • TDT 3 4
  • Nucleosidetriphosphate:DNA Deoxynucleotidylexotransferase 3
  • Terminal Deoxyribonucleotidyltransferase 3
  • Deoxynucleotidyltransferase, Terminal 2
  • EC 2.7.7.31 4

External Ids for DNTT Gene

Previous GeneCards Identifiers for DNTT Gene

  • GC10P096957
  • GC10P097297
  • GC10P098195
  • GC10P097728
  • GC10P098054
  • GC10P091692
  • GC10P098072

Summaries for DNTT Gene

Entrez Gene Summary for DNTT Gene

  • 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]

GeneCards Summary for DNTT Gene

DNTT (DNA Nucleotidylexotransferase) is a Protein Coding gene. Diseases associated with DNTT include Lymphoblastic Lymphoma and Myeloid Sarcoma. Among its related pathways are DNA Double-Strand Break Repair and Hematopoietic cell lineage. Gene Ontology (GO) annotations related to this gene include DNA-directed DNA polymerase activity and DNA polymerase activity. An important paralog of this gene is POLM.

UniProtKB/Swiss-Prot for DNTT Gene

  • Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5-triphosphate to the 3-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells.

Gene Wiki entry for DNTT Gene

Additional gene information for DNTT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNTT Gene

Genomics for DNTT Gene

GeneHancer (GH) Regulatory Elements for DNTT Gene

Promoters and enhancers for DNTT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J096266 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.3 -33.6 -33588 8.4 HDGF PKNOX1 FOXA2 SMAD1 YBX1 IRF4 YY1 ELK1 ZNF143 ATF7 BLNK DNTT TCTN3 CCNJ ZNF518A GC10M096216 GC10M096095
GH10J096304 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.7 +0.1 105 0.1 DNTT ENSG00000229418 GC10M096095
GH10J096305 Enhancer 0.4 FANTOM5 dbSUPER 654.5 +0.9 884 0.1 DNTT ENSG00000229418 BLNK CCNJ ZNF518A CC2D2B GC10M096095
GH10J096302 Enhancer 0.4 dbSUPER 650.7 -1.7 -1709 0.9 PKNOX1 USF1 DNTT BLNK ENSG00000229418 GC10M096095
GH10J096303 Enhancer 0.2 dbSUPER 650.7 -0.8 -822 0.4 DNTT ENSG00000229418 BLNK GC10M096095
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNTT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNTT gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • AML1a
  • RREB-1
  • CP2
  • AREB6
  • c-Ets-1
  • NF-AT
  • NF-AT1

Genomic Locations for DNTT Gene

Genomic Locations for DNTT Gene
chr10:96,304,328-96,338,564
(GRCh38/hg38)
Size:
34,237 bases
Orientation:
Plus strand
chr10:98,064,085-98,098,321
(GRCh37/hg19)
Size:
34,237 bases
Orientation:
Plus strand

Genomic View for DNTT Gene

Genes around DNTT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNTT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNTT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNTT Gene

Proteins for DNTT Gene

  • Protein details for DNTT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04053-TDT_HUMAN
    Recommended name:
    DNA nucleotidylexotransferase
    Protein Accession:
    P04053
    Secondary Accessions:
    • Q53FH1
    • Q5W103
    • Q96E50

    Protein attributes for DNTT Gene

    Size:
    509 amino acids
    Molecular mass:
    58536 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with PRP19 and DNTTIP1. Forms a ternary complex with DNTTIP2 and core histone. Released from this complex by PCNA. Interacts with TRERF1 (PubMed:16371131).

    Three dimensional structures from OCA and Proteopedia for DNTT Gene

    Alternative splice isoforms for DNTT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNTT Gene

Post-translational modifications for DNTT Gene

  • Ubiquitination at Lys468, posLast=425425, posLast=408408, Lys393, posLast=386386, Lys371, Lys339, posLast=290290, posLast=261261, posLast=250250, Lys222, Lys209, posLast=199199, and Lys59
  • Modification sites at PhosphoSitePlus

Other Protein References for DNTT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNTT Gene

Domains & Families for DNTT Gene

Gene Families for DNTT Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DNTT Gene

Graphical View of Domain Structure for InterPro Entry

P04053

UniProtKB/Swiss-Prot:

TDT_HUMAN :
  • Belongs to the DNA polymerase type-X family.
Family:
  • Belongs to the DNA polymerase type-X family.
genes like me logo Genes that share domains with DNTT: view

Function for DNTT Gene

Molecular function for DNTT Gene

UniProtKB/Swiss-Prot Function:
Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5-triphosphate to the 3-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells.
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
GENATLAS Biochemistry:
deoxynucleotidyltransferase,terminal

Enzyme Numbers (IUBMB) for DNTT Gene

Gene Ontology (GO) - Molecular Function for DNTT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity IEA --
GO:0003912 DNA nucleotidylexotransferase activity TAS,IDA 11473582
GO:0005515 protein binding IPI 11473582
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with DNTT: view
genes like me logo Genes that share phenotypes with DNTT: view

Animal Models for DNTT Gene

MGI Knock Outs for DNTT:
  • Dntt Dntt<tm2b(KOMP)Wtsi>
  • Dntt Dntt<tm1Gfn>
  • Dntt Dntt<tm1Fwa>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNTT

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DNTT Gene

Localization for DNTT Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNTT Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNTT gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNTT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0000791 euchromatin IEA --
GO:0005634 nucleus IDA 16371131
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DNTT: view

Pathways & Interactions for DNTT Gene

genes like me logo Genes that share pathways with DNTT: view

Pathways by source for DNTT Gene

Gene Ontology (GO) - Biological Process for DNTT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006259 DNA metabolic process IDA 11473582
GO:0006304 DNA modification IEA --
GO:0033198 response to ATP IEA --
GO:0071897 DNA biosynthetic process IEA --
genes like me logo Genes that share ontologies with DNTT: view

No data available for SIGNOR curated interactions for DNTT Gene

Drugs & Compounds for DNTT Gene

(27) Drugs for DNTT Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
Phosphoric acid Approved Pharma 0
2',3'-Dideoxyadenosine-5'-Triphosphate Experimental Pharma Target 0
Cordycepin Investigational Pharma 7

(31) Additional Compounds for DNTT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with DNTT: view

Transcripts for DNTT Gene

mRNA/cDNA for DNTT Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNTT Gene

Deoxynucleotidyltransferase, terminal:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNTT

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNTT Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1:
SP2:
SP3: -

Relevant External Links for DNTT Gene

GeneLoc Exon Structure for
DNTT
ECgene alternative splicing isoforms for
DNTT

Expression for DNTT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNTT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNTT Gene

This gene is overexpressed in Testis (x16.5) and Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for DNTT Gene

This gene is overexpressed in Liver, secretome (42.5) and Lung (24.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNTT Gene



Protein tissue co-expression partners for DNTT Gene

NURSA nuclear receptor signaling pathways regulating expression of DNTT Gene:

DNTT

SOURCE GeneReport for Unigene cluster for DNTT Gene:

Hs.534206

Evidence on tissue expression from TISSUES for DNTT Gene

  • Blood(3.4)
  • Bone marrow(2.9)
  • Nervous system(2.7)
  • Muscle(2.6)
  • Heart(2.5)
  • Eye(2.3)
  • Liver(2.3)
  • Lung(2.3)
  • Intestine(2.2)
  • Kidney(2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with DNTT: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNTT Gene

Orthologs for DNTT Gene

This gene was present in the common ancestor of chordates.

Orthologs for DNTT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNTT 34 33
  • 99.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DNTT 34 33
  • 89.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNTT 34 33
  • 87.27 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dntt 33
  • 81.01 (n)
mouse
(Mus musculus)
Mammalia Dntt 16 34 33
  • 80.55 (n)
oppossum
(Monodelphis domestica)
Mammalia DNTT 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNTT 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNTT 34 33
  • 68.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNTT 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dntt 33
  • 61.97 (n)
African clawed frog
(Xenopus laevis)
Amphibia dntt-A 33
zebrafish
(Danio rerio)
Actinopterygii dntt 34 33
  • 54.5 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11749 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToMany
Species where no ortholog for DNTT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNTT Gene

ENSEMBL:
Gene Tree for DNTT (if available)
TreeFam:
Gene Tree for DNTT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNTT: view image

Paralogs for DNTT Gene

Paralogs for DNTT Gene

(1) SIMAP similar genes for DNTT Gene using alignment to 2 proteins:

  • TDT_HUMAN
  • Q14182_HUMAN
genes like me logo Genes that share paralogs with DNTT: view

Variants for DNTT Gene

Sequence variations from dbSNP and Humsavar for DNTT Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000005301 -- 96,304,598(+) A/G coding_sequence_variant, missense_variant
rs1000073333 -- 96,319,003(+) G/A intron_variant
rs1000114593 -- 96,310,366(+) A/C intron_variant
rs1000225770 -- 96,328,519(+) C/T intron_variant
rs1000260902 -- 96,322,523(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DNTT Gene

Variant ID Type Subtype PubMed ID
esv2761620 CNV gain 21179565
nsv1110852 OTHER inversion 24896259
nsv831949 CNV gain 17160897
nsv831950 CNV gain 17160897

Variation tolerance for DNTT Gene

Residual Variation Intolerance Score: 80.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.52; 44.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNTT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNTT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNTT Gene

Disorders for DNTT Gene

MalaCards: The human disease database

(26) MalaCards diseases for DNTT Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lymphoblastic lymphoma
  • lymphoma, lymphoblastic
myeloid sarcoma
  • chloroma
acute leukemia
  • stem cell leukaemia
ewing sarcoma
  • es
thymoma
  • thymus neoplasms
- elite association - COSMIC cancer census association via MalaCards
Search DNTT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DNTT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DNTT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNTT Gene

Publications for DNTT Gene

  1. Mutational analysis of residues in the nucleotide binding domain of human terminal deoxynucleotidyl transferase. (PMID: 8163485) Yang B … Coleman MS (The Journal of biological chemistry 1994) 3 4 22 58
  2. Bood POZ containing gene type 2 is a human counterpart of yeast Btb3p and promotes the degradation of terminal deoxynucleotidyltransferase. (PMID: 18429817) Maezawa S … Koiwai O (Genes to cells : devoted to molecular & cellular mechanisms 2008) 3 22 58
  3. Identification of functional domains in TdIF1 and its inhibitory mechanism for TdT activity. (PMID: 17663723) Kubota T … Koiwai O (Genes to cells : devoted to molecular & cellular mechanisms 2007) 3 22 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  5. Direct binding of TReP-132 with TdT results in reduction of TdT activity. (PMID: 16371131) Fujisaki S … Koiwai O (Genes to cells : devoted to molecular & cellular mechanisms 2006) 3 4 58

Products for DNTT Gene

Sources for DNTT Gene

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