DNTT deoxynucleotidyltransferase, terminal [Homo sapiens] - Gene

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Summary

Official Symbol: DNTTprovided by HGNC
Official Full Name: deoxynucleotidyltransferase, terminalprovided by HGNC
Primary source: HGNC:2983
See related: Ensembl:ENSG00000107447; HPRD:08925; MIM:187410; Vega:OTTHUMG00000018832
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]

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Genomic context

Location :: 10q23-q24

Sequence :: Chromosome: 10; NC_000010.10 (98064085..98098321)

See DNTT in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
The TdT binding, DNA binding and dimerization regions, and nuclear localization signal (NLS) in TdIF1, were identified.
Title: Identification of functional domains in TdIF1 and its inhibitory mechanism for TdT activity.
role in DNA repair
Title: [Expression and function of terminal deoxynucleotidyl-transferase and discovery of novel DNA polymerase mu].
Overexpression of newly discovered alternatively spliced short or long human TdT isoforms greatly reduces the efficiency of recombination, which is reverted to normal levels by the simultaneous expression of both enzymes.
Title: Distinct and opposite activities of human terminal deoxynucleotidyltransferase splice variants.
In spleen, appendix and branchial cleft cysts the range of TdT-positivity was 0-13, 0-96 and 0-6 TdT+ cells per high-power field.
Title: Terminal deoxynucleotidyl transferase-positive cells in spleen, appendix and branchial cleft cysts in pediatric patients.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P04053	Q9H147	DNTTIP1	HPRD	PubMed
P04053	Estrogen receptor binding protein	DNTTIP2	HPRD	PubMed
P04053	P12004	PCNA	HPRD	PubMed
P04053	Q9UMS4	PRPF19	HPRD	PubMed
P04053	P12956	XRCC6	HPRD	PubMed
BioGRID:108127	BioGRID:117367	ABTB2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108127	BioGRID:114030	CUL3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108127	BioGRID:119052	DNTTIP2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:108127	BioGRID:111142	PCNA	BioGRID	PubMed	Co-purification; Reconstituted Complex; Two-hybrid
BioGRID:108127	BioGRID:118151	PRPF19	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108127	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108127	BioGRID:108822	XRCC6	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
DNA nucleotidylexotransferase activity	IEA Inferred from Electronic Annotation more info
DNA-directed DNA polymerase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
DNA modification	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
intracellular	IEA Inferred from Electronic Annotation more info
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: DNA nucleotidylexotransferase

Names: DNA nucleotidylexotransferase; terminal transferase; terminal addition enzyme; terminal deoxynucleotidyltransferase; terminal deoxyribonucleotidyltransferase; nucleosidetriphosphate:DNA deoxynucleotidylexotransferase

NP_001017520.1

EC 2.7.7.31

NP_004079.3

EC 2.7.7.31

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NCBI Reference Sequences (RefSeq)

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)

NM_001017520.1 → 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)

AH002743, AK130771, AL136181, BC012920

Consensus CDS

CCDS44465.1

UniProtKB/Swiss-Prot

P04053

Related

ENSP00000401169, ENST00000419175

Conserved Domains (3) summary

cd00027
Location:34 – 112
Blast Score: 114

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

smart00483
Location:163 – 507
Blast Score: 1154

POLXc; DNA polymerase X family

cd00141
Location:166 – 506
Blast Score: 759

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases.
NM_004088.3 → 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)

AH002743, AL136181, BC012920

Consensus CDS

CCDS7447.1

UniProtKB/Swiss-Prot

P04053

Related

ENSP00000360216, OTTHUMP00000020171, ENST00000371174, OTTHUMT00000049607

Conserved Domains (3) summary

cd00027
Location:34 – 112
Blast Score: 114

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

smart00483
Location:163 – 508
Blast Score: 1171

POLXc; DNA polymerase X family

cd00141
Location:166 – 507
Blast Score: 774

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases.

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

98064085..98098321

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

91692006..91726215

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL136181.13	CAH72984.1
genomic	CH471066.2	EAW49979.1
genomic	M21195.1	AAA61137.1
mRNA	AB046378.1	BAB72001.1
mRNA	AK130771.1	None
mRNA	AK223317.1	BAD97037.1
mRNA	AK313615.1	None
mRNA	BC012920.1	AAH12920.1
mRNA	K01919.1	AAA61136.1
mRNA	M20703.1	AAA53100.1
mRNA	M22968.1	AAA53100.1
mRNA	M26144.1	AAA74588.1
other-genetic	DQ891465.2	ABM82391.1
other-genetic	DQ894645.2	ABM85571.1