Human Gene DNTT (ENST00000371174.5_8) from GENCODE V47lift37
  Description: DNA nucleotidylexotransferase, transcript variant 1 (from RefSeq NM_004088.4)
Gencode Transcript: ENST00000371174.5_8
Gencode Gene: ENSG00000107447.8_11
Transcript (Including UTRs)
   Position: hg19 chr10:98,064,191-98,098,321 Size: 34,131 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr10:98,064,255-98,097,981 Size: 33,727 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:98,064,191-98,098,321)mRNA (may differ from genome)Protein (509 aa)
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-  Comments and Description Text from UniProtKB
  ID: TDT_HUMAN
DESCRIPTION: RecName: Full=DNA nucleotidylexotransferase; EC=2.7.7.31; AltName: Full=Terminal addition enzyme; AltName: Full=Terminal deoxynucleotidyltransferase; Short=Terminal transferase;
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.
CATALYTIC ACTIVITY: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
COFACTOR: Magnesium.
SUBUNIT: Interacts with PRP19 and DNTTIP1. Forms a ternary complex with DNTTIP2 and core histone. Released from this complex by PCNA.
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Belongs to the DNA polymerase type-X family.
SIMILARITY: Contains 1 BRCT domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNTT
Diseases sorted by gene-association score: myeloid sarcoma (8), lymphoblastic lymphoma (8), acute leukemia (5), leukemia, acute lymphoblastic (5), thymoma (4), burkitt lymphoma (4), tetrasomy 21 (4), acute biphenotypic leukemia (4), ewing sarcoma (3), myelodysplastic syndrome (2), hematologic cancer (2), thymus cancer (2), glomangiosarcoma (2), leukemia, chronic myeloid, somatic (2), acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) (2), dendritic cell tumor (2), chronic lymphocytic leukemia (2), lymphoma, non-hodgkin (2), leukemia, acute lymphoblastic 3 (1), pigmented basal cell carcinoma (1), leukemia, acute promyelocytic, somatic (1), epidural neoplasm (1), photokeratitis (1), pediatric lymphoma (1), pleomorphic lipoma (1), functional diarrhea (1), leukemia, acute myeloid (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.39 RPKM in Testis
Total median expression: 0.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.7064-0.323 Picture PostScript Text
3' UTR -64.90340-0.191 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001357 - BRCT_dom
IPR002054 - DNA-dir_DNA_pol_X
IPR010996 - DNA-dir_DNA_pol_X_beta-like_N
IPR001726 - DNA_nucleotidylexotransferase
IPR019843 - DNA_pol-X_BS
IPR018944 - DNA_pol_lambd_fingers_domain
IPR022312 - DNA_pol_X
IPR002934 - Nucleotidyltransferase

Pfam Domains:
PF00533 - BRCA1 C Terminus (BRCT) domain
PF01909 - Nucleotidyltransferase domain
PF10391 - Fingers domain of DNA polymerase lambda
PF14716 - Helix-hairpin-helix domain
PF14791 - DNA polymerase beta thumb
PF14792 - DNA polymerase beta palm

SCOP Domains:
81585 - PsbU/PolX domain-like
47802 - DNA polymerase beta, N-terminal domain-like
52113 - BRCT domain
81301 - Nucleotidyltransferase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2COE - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P04053
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003887 DNA-directed DNA polymerase activity
GO:0003912 DNA nucleotidylexotransferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0034061 DNA polymerase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006259 DNA metabolic process
GO:0006304 DNA modification
GO:0033198 response to ATP
GO:0071897 DNA biosynthetic process

Cellular Component:
GO:0000790 nuclear chromatin
GO:0000791 euchromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016363 nuclear matrix


-  Descriptions from all associated GenBank mRNAs
  AB046378 - Homo sapiens tdt mRNA for terminal deoxynucleotidyltransferase, complete cds.
M11722 - Human terminal transferase mRNA, complete cds.
AK313615 - Homo sapiens cDNA, FLJ94185.
M26144 - Human deoxynucleotidyltransferase (DNTT) mRNA, 5' end.
BC012920 - Homo sapiens deoxynucleotidyltransferase, terminal, mRNA (cDNA clone MGC:21346 IMAGE:4509721), complete cds.
JD186822 - Sequence 167846 from Patent EP1572962.
AK223317 - Homo sapiens mRNA for deoxynucleotidyltransferase, terminal variant, clone: TMS06630.
DQ891465 - Synthetic construct clone IMAGE:100004095; FLH177189.01X; RZPDo839E03124D deoxynucleotidyltransferase, terminal (DNTT) gene, encodes complete protein.
DQ894645 - Synthetic construct Homo sapiens clone IMAGE:100009105; FLH177186.01L; RZPDo839E03123D deoxynucleotidyltransferase, terminal (DNTT) gene, encodes complete protein.
AK130771 - Homo sapiens cDNA FLJ27261 fis, clone TMS00143, highly similar to DNA nucleotidylexotransferase (EC 2.7.7.31).
K01919 - Human terminal deoxynucleotidyltransferase (TdT), mRNA.
JD396862 - Sequence 377886 from Patent EP1572962.
JD498086 - Sequence 479110 from Patent EP1572962.
JD042474 - Sequence 23498 from Patent EP1572962.
JD507083 - Sequence 488107 from Patent EP1572962.
M26147 - Homo sapiens deoxynucleotidyltransferase (DNTT) mRNA, 3' end.
JD108282 - Sequence 89306 from Patent EP1572962.
JD522869 - Sequence 503893 from Patent EP1572962.
JD225293 - Sequence 206317 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000371174.1, ENST00000371174.2, ENST00000371174.3, ENST00000371174.4, NM_004088, P04053, Q53FH1, Q5W103, Q96E50, TDT , TDT_HUMAN, uc318iym.1, uc318iym.2
UCSC ID: ENST00000371174.5_8
RefSeq Accession: NM_004088.4
Protein: P04053 (aka TDT_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.