• Gene id: 1791

Gene Summary

• Gene Symbol: DNTT   Gene   UCSC   Ensembl
• Aliases: TDT
• Gene name: DNA nucleotidylexotransferase
• Alternate names: DNA nucleotidylexotransferase, nucleosidetriphosphate:DNA deoxynucleotidylexotransferase, terminal addition enzyme, terminal deoxynucleotidyltransferase, terminal deoxyribonucleotidyltransferase, terminal transferase,
• Gene location: 10q24.1 (96304433: 96338563)     Exons: 11     NC_000010.11
• Gene summary(Entrez): 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 i
• OMIM: 601058

Protein Summary

• Protein general information: P04053  
  • Name: DNA nucleotidylexotransferase (EC 2.7.7.31) (Terminal addition enzyme) (Terminal deoxynucleotidyltransferase) (Terminal transferase)
  • Length: 509  
  • Mass: 58536
• Sequence:

  MDPPRASHLSPRKKRPRQTGALMASSPQDIKFQDLVVFILEKKMGTTRRAFLMELARRKGFRVENELSDSVTHIV
  AENNSGSDVLEWLQAQKVQVSSQPELLDVSWLIECIRAGKPVEMTGKHQLVVRRDYSDSTNPGPPKTPPIAVQKI
  SQYACQRRTTLNNCNQIFTDAFDILAENCEFRENEDSCVTFMRAASVLKSLPFTIISMKDTEGIPCLGSKVKGII
  EEIIEDGESSEVKAVLNDERYQSFKLFTSVFGVGLKTSEKWFRMGFRTLSKVRSDKSLKFTRMQKAGFLYYEDLV
  SCVTRAEAEAVSVLVKEAVWAFLPDAFVTMTGGFRRGKKMGHDVDFLITSPGSTEDEEQLLQKVMNLWEKKGLLL
  YYDLVESTFEKLRLPSRKVDALDHFQKCFLIFKLPRQRVDSDQSSWQEGKTWKAIRVDLVLCPYERRAFALLGWT
  GSRQFERDLRRYATHERKMILDNHALYDKTKRIFLKAESEEEIFAHLGLDYIEPWERNA

• Structural information:
  • Protein Domains: (27..12-)
    (/note="BRCT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033"-)
  • Interpro: IPR001357  IPR036420  IPR002054  IPR019843  IPR010996   IPR028207  IPR018944  IPR027421  IPR037160  IPR022312  IPR029398  IPR027292  IPR001726  
  • Prosite: PS50172 PS00522
  • CDD: cd00141
  • PDB: 2COE 5W4E
  • PDBsum: 2COE 5W4E
  • STRING: ENSP00000360216
• Other Databases: GeneCards:  DNTT  Malacards:  DNTT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006303	double-strand break repair via nonhomologous end joining	IBA	biological process
GO:0006284	base-excision repair	IBA	biological process
GO:0003912	DNA nucleotidylexotransferase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003912	DNA nucleotidylexotransferase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0006259	DNA metabolic process	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003912	DNA nucleotidylexotransferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0034061	DNA polymerase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0003912	DNA nucleotidylexotransferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006304	DNA modification	IEA	biological process
GO:0003912	DNA nucleotidylexotransferase activity	TAS	molecular function
GO:0003912	DNA nucleotidylexotransferase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033198	response to ATP	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0006259	DNA metabolic process	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0000791	euchromatin	IEA	cellular component
GO:0003912	DNA nucleotidylexotransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0071897	DNA biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04640	Hematopoietic cell lineage
hsa03450	Non-homologous end-joining

Diseases

Associated diseases	References
acute lymphocytic leukemia	PMID:7020399
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray