DTD1 D-aminoacyl-tRNA deacylase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DTD1provided by HGNC
Official Full Name: D-aminoacyl-tRNA deacylase 1provided by HGNC
Primary source: HGNC:HGNC:16219
See related: Ensembl:ENSG00000125821 MIM:610996; AllianceGenome:HGNC:16219
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: DTD; DUEB; DUE-B; HARS2; pqn-68; C20orf88
Summary: The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression: Ubiquitous expression in thyroid (RPKM 7.0), brain (RPKM 6.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p11.23

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (18588054..18766644)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (18639109..18818510)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (18568698..18747288)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

results suggest that DUE-B acts to identify origins by MCM binding and serves as a node for replication protein recruitment and Cdc45 transfer to the prereplication complex
Title: Interaction between DUE-B and Treslin is required to load Cdc45 on chromatin in human cells.
The state of DUE-B phosphorylation is maintained by the equilibrium between Cdc7-dependent phosphorylation and PP2A-dependent dephosphorylation.
Title: Protein phosphatase 2A and Cdc7 kinase regulate the DNA unwinding element-binding protein in replication initiation.
LDI-PCR revealed a fusion between DTD1 exon 4 and PDGFRB exon 12 in the cases with t(5;14)(q33;q32) and t(5;20)(q33;p11).
Title: Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.
DTD1 variants do not affect the abnormalities of the upper airways in aspirin-intolerant asthma patients
Title: Association analysis of DTD1 gene variations with aspirin-intolerance in asthmatics.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The coordinated binding of DUE-B and Cdc45 to origins and the physical interactions of DUE-B, Cdc45, and TopBP1 suggest that complexes of these proteins are necessary for replication initiation.
Title: The DNA unwinding element binding protein DUE-B interacts with Cdc45 in preinitiation complex formation.
cloning and identification of novel cDNA which may be associated with FKBP25
Title: Cloning and identification of a novel cDNA which may be associated with FKBP25.
DUE-B, a c-myc DNA-unwinding element-binding protein, plays an important role in replication in vivo.
Title: The c-myc DNA-unwinding element-binding protein modulates the assembly of DNA replication complexes in vitro.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-85074 (e-PCR)
- UniSTS:103456

PMC156606P1 (e-PCR)
- UniSTS:271408

Z94412 (e-PCR)
- UniSTS:36410

RH16215 (e-PCR)
- UniSTS:53834

RH46912 (e-PCR)
- UniSTS:37459

SHGC-148571 (e-PCR)
- UniSTS:176470

SHGC-132525 (e-PCR)
- UniSTS:173938

NoName (e-PCR)
- UniSTS:482960

SHGC-34790 (e-PCR)
- UniSTS:2194

RH68095 (e-PCR)
- UniSTS:63642

RH123497 (e-PCR)
- UniSTS:135872

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-tyrosyl-tRNA(Tyr) deacylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA binding	EXP Inferred from Experiment more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables tRNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	EXP Inferred from Experiment more info	PubMed
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in aminoacyl-tRNA metabolism involved in translational fidelity	IEA Inferred from Electronic Annotation more info
involved_in tRNA metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	HTP more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: D-aminoacyl-tRNA deacylase 1

Names: D-tyrosyl-tRNA deacylase 1 homolog; D-tyrosyl-tRNA(Tyr) deacylase 1; DNA-unwinding element-binding protein B; gly-tRNA(Ala) deacylase; histidyl-tRNA synthase-related; histidyl-tRNA synthetase 2

NP_001304972.1

EC 3.1.1.96

NP_543010.3

EC 3.1.1.96

XP_054180199.1

EC 3.1.1.96

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)

NM_001318043.2 → NP_001304972.1 D-aminoacyl-tRNA deacylase 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK074304, AL121900

Consensus CDS

CCDS86938.1

UniProtKB/TrEMBL

A0A2R8Y6X2

Related

ENSP00000495845.1, ENST00000494921.2

Conserved Domains (2) summary

cd00563
Location:1 → 147

Dtyr_deacylase; D-Tyrosyl-tRNAtyr deacylases; a class of tRNA-dependent hydrolases which are capable of hydrolyzing the ester bond of D-Tyrosyl-tRNA reducing the level of cellular D-Tyrosine while recycling the peptidyl-tRNA; found in bacteria and in eukaryotes but not ...

pfam13900
Location:165 → 212

GVQW; Putative domain of unknown function
NM_080820.6 → NP_543010.3 D-aminoacyl-tRNA deacylase 1 isoform 2

See identical proteins and their annotated locations for NP_543010.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a different 3' structure, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus, and is shorter, compared to isoform 1.

Source sequence(s)

AL121780, AW022517, BC100924

Consensus CDS

CCDS13138.1

UniProtKB/Swiss-Prot

A8K5X5, D3DW37, Q496D1, Q5W184, Q8TEA8, Q8WXU8, Q9BW67, Q9H464, Q9H474

UniProtKB/TrEMBL

Q496C9

Related

ENSP00000366672.4, ENST00000377452.4

Conserved Domains (1) summary

cd00563
Location:1 → 147

Dtyr_deacylase; D-Tyrosyl-tRNAtyr deacylases; a class of tRNA-dependent hydrolases which are capable of hydrolyzing the ester bond of D-Tyrosyl-tRNA reducing the level of cellular D-Tyrosine while recycling the peptidyl-tRNA; found in bacteria and in eukaryotes but not ...