QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: QTRT1provided by HGNC
Official Full Name: queuine tRNA-ribosyltransferase catalytic subunit 1provided by HGNC
Primary source: HGNC:HGNC:23797
See related: Ensembl:ENSG00000213339 MIM:609615; AllianceGenome:HGNC:23797
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: TGT; TGUT; FP3235
Summary: This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]
Expression: Ubiquitous expression in ovary (RPKM 18.9), thyroid (RPKM 17.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10701439..10713365)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10827905..10839826)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10812115..10824041)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural and functional insights into tRNA recognition by human tRNA guanine transglycosylase.
Title: Structural and functional insights into tRNA recognition by human tRNA guanine transglycosylase.
The human tRNA-guanine transglycosylase displays promiscuous nucleobase preference but strict tRNA specificity.
Title: The human tRNA-guanine transglycosylase displays promiscuous nucleobase preference but strict tRNA specificity.
Homology models of C elegans Tgt and human Tgt suggest that the replacement of Cys158 and Val233 in bacterial Tgt (Zymomonas mobilis) by valine and accordingly glycine in eucaryotic Tgt largely accounts for the different substrate specificities.
Title: Investigation of specificity determinants in bacterial tRNA-guanine transglycosylase reveals queuine, the substrate of its eucaryotic counterpart, as inhibitor.
the inhibition of the human TGT by biopterin, consistent with earlier reports on other eukaryal TGTs, and supportive of the concept that pteridines may regulate eukaryal TGT activity in vivo.
Title: Differential heterocyclic substrate recognition by, and pteridine inhibition of E. coli and human tRNA-guanine transglycosylases.
phylogenetic and kinetic analyses support the conclusion that all tRNA-guanine transglycosylases have divergently evolved to specifically recognize their cognate heterocyclic substrates.
Title: Evolution of eukaryal tRNA-guanine transglycosylase: insight gained from the heterocyclic substrate recognition by the wild-type and mutant human and Escherichia coli tRNA-guanine transglycosylases.
TGT is composed of a catalytic subunit, QTRT1, and QTRTD1, not USP14. QTRTD1 has been implicated as the salvage enzyme that generates free queuine from QMP.
Title: Characterization of the human tRNA-guanine transglycosylase: confirmation of the heterodimeric subunit structure.

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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

D8S2279 (e-PCR)
- UniSTS:473907

D1S1425 (e-PCR)
- UniSTS:149621

RH45376 (e-PCR)
- UniSTS:65190

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables tRNA-guanosine(34) queuine transglycosylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tRNA-guanosine(34) queuine transglycosylase activity	IDA Inferred from Direct Assay more info	PubMed
enables tRNA-guanosine(34) queuine transglycosylase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in tRNA modification	TAS Traceable Author Statement more info	PubMed
involved_in tRNA-guanine transglycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA-guanine transglycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA-guanine transglycosylation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial outer membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IPI Inferred from Physical Interaction more info	PubMed
part_of transferase complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: queuine tRNA-ribosyltransferase catalytic subunit 1

Names: TGT, 43-KD subunit; TGT, catalytic subunit; guanine insertion enzyme; queuine tRNA-ribosyltransferase 1; tRNA-guanine transglycosylase

NP_112486.1

EC 2.4.2.64

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.