QTRT1 Gene (Protein Coding)

Queuine TRNA-Ribosyltransferase Catalytic Subunit 1

GC19P010701
GIFtS:
38
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 c... See more...

Aliases for QTRT1 Gene

Aliases for QTRT1 Gene

  • Queuine TRNA-Ribosyltransferase Catalytic Subunit 1 2 3 4 5
  • TRNA-Guanine Transglycosylase 2 3 4
  • TGT 2 3 4
  • Queuine TRNA-Ribosyltransferase 1 2 3
  • Guanine Insertion Enzyme 3 4
  • EC 2.4.2.29 4 51
  • TGUT 3 4
  • TGT, Catalytic Subunit 3
  • TGT, 43-KD Subunit 3
  • FP3235 3
  • QTRT1 5

External Ids for QTRT1 Gene

Previous GeneCards Identifiers for QTRT1 Gene

  • GC19P010674
  • GC19P010675
  • GC19P010676
  • GC19P010812
  • GC19P010389

Summaries for QTRT1 Gene

Entrez Gene Summary for QTRT1 Gene

  • 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]

GeneCards Summary for QTRT1 Gene

QTRT1 (Queuine TRNA-Ribosyltransferase Catalytic Subunit 1) is a Protein Coding gene. Diseases associated with QTRT1 include Atypical Autism and Benign Epilepsy With Centrotemporal Spikes. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include queuine tRNA-ribosyltransferase activity. An important paralog of this gene is QTRT2.

UniProtKB/Swiss-Prot Summary for QTRT1 Gene

  • Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine) (PubMed:11255023, PubMed:20354154). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1' of nucleotide 34 to detach the guanine base from the RNA, forming a covalent enzyme-RNA intermediate. The proton acceptor active site deprotonates the incoming queuine, allowing a nucleophilic attack on the C1' of the ribose to form the product (By similarity).

Additional gene information for QTRT1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for QTRT1 Gene

Genomics for QTRT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for QTRT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around QTRT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for QTRT1

Top Transcription factor binding sites by QIAGEN in the QTRT1 gene promoter:
  • AP-1
  • ATF-2
  • STAT3

Genomic Locations for QTRT1 Gene

Genomic Locations for QTRT1 Gene
chr19:10,701,430-10,713,437
(GRCh38/hg38)
Size:
12,008 bases
Orientation:
Plus strand
chr19:10,812,106-10,824,113
(GRCh37/hg19)
Size:
12,008 bases
Orientation:
Plus strand

Genomic View for QTRT1 Gene

Genes around QTRT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
QTRT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for QTRT1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for QTRT1 Gene

Proteins for QTRT1 Gene

Products:

  1. Antibody
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  • Protein details for QTRT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXR0-TGT_HUMAN
    Recommended name:
    Queuine tRNA-ribosyltransferase catalytic subunit 1
    Protein Accession:
    Q9BXR0
    Secondary Accessions:
    • B4DFM7
    • Q96BQ4
    • Q9BXQ9

    Protein attributes for QTRT1 Gene

    Size:
    403 amino acids
    Molecular mass:
    44048 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Heterodimer of a catalytic subunit QTRT1 and an accessory subunit QTRT2.
    SequenceCaution:
    • Sequence=AAH15350.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for QTRT1 Gene

    Alternative splice isoforms for QTRT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for QTRT1 Gene

Protein Expression for QTRT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for QTRT1 Gene

Q9BXR0:
  • FMPVGTQA
  • LGNTYHL
  • IQNALGSDI
  • KPRYLMGVG
  • TPVFMPVGT
  • LTDSGGFQ

Post-translational modifications for QTRT1 Gene

  • Ubiquitination at Lys219 and Lys236
  • Modification sites at PhosphoSitePlus

Other Protein References for QTRT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for QTRT1 Gene

Gene Families for QTRT1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for QTRT1 Gene

InterPro:
Blocks:
  • Queuine/other tRNA-ribosyltransferase
ProtoNet:

Suggested Antigen Peptide Sequences for QTRT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52927, highly similar to Queuine tRNA-ribosyltransferase (EC 2.4.2.29) (B4DFM7_HUMAN)
  • Queuine tRNA-ribosyltransferase 1 (TRNA-guanine transglycosylase), isoform CRA_b (Q71RF8_HUMAN)
  • tRNA-guanine transglycosylase (TGT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BXR0

UniProtKB/Swiss-Prot:

TGT_HUMAN :
  • Belongs to the queuine tRNA-ribosyltransferase family.
Family:
  • Belongs to the queuine tRNA-ribosyltransferase family.
genes like me logo Genes that share domains with QTRT1: view

Function for QTRT1 Gene

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Molecular function for QTRT1 Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine) (PubMed:11255023, PubMed:20354154). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1' of nucleotide 34 to detach the guanine base from the RNA, forming a covalent enzyme-RNA intermediate. The proton acceptor active site deprotonates the incoming queuine, allowing a nucleophilic attack on the C1' of the ribose to form the product (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=guanosine(34) in tRNA + queuine = guanine + queuosine(34) in tRNA; Xref=Rhea:RHEA:16633, Rhea:RHEA-COMP:10341, Rhea:RHEA-COMP:10345, ChEBI:CHEBI:16235, ChEBI:CHEBI:74269, ChEBI:CHEBI:77674, ChEBI:CHEBI:82831; EC=2.4.2.29; Evidence={ECO:0000255|HAMAP-Rule:MF_03218, ECO:0000269|PubMed:20354154};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.34 uM for tRNA(Tyr) {ECO:0000269|PubMed:20354154}; KM=0.41 uM for guanine {ECO:0000269|PubMed:20354154}; Note=kcat is 0.0056 sec(-1) with tRNA(Tyr) as substrate and 0.00586 sec(-1) with guanine as substrate. {ECO:0000269|PubMed:20354154};

Enzyme Numbers (IUBMB) for QTRT1 Gene

Phenotypes From GWAS Catalog for QTRT1 Gene

Gene Ontology (GO) - Molecular Function for QTRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008479 queuine tRNA-ribosyltransferase activity TAS 11255023
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016763 transferase activity, transferring pentosyl groups IEA --
GO:0042803 protein homodimerization activity IDA 20354154
genes like me logo Genes that share ontologies with QTRT1: view
genes like me logo Genes that share phenotypes with QTRT1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for QTRT1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QTRT1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for QTRT1 Gene

Localization for QTRT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for QTRT1 Gene

Cytoplasm. Mitochondrion outer membrane. Peripheral membrane protein. Cytoplasmic side. Note=Weakly associates with mitochondria, possibly via QTRT2. {ECO:0000255 HAMAP-Rule:MF_03218}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for QTRT1 gene
Compartment Confidence
mitochondrion 4
nucleus 4
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for QTRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with QTRT1: view

Pathways & Interactions for QTRT1 Gene

PathCards logo

SuperPathways for QTRT1 Gene

genes like me logo Genes that share pathways with QTRT1: view

Pathways by source for QTRT1 Gene

Gene Ontology (GO) - Biological Process for QTRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006400 tRNA modification IEA,TAS 11255023
GO:0008033 tRNA processing IEA --
GO:0101030 tRNA-guanine transglycosylation NAS 11255023
genes like me logo Genes that share ontologies with QTRT1: view

No data available for SIGNOR curated interactions for QTRT1 Gene

Drugs & Compounds for QTRT1 Gene

Products:

  1. Drug

(4) Drugs for QTRT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanine Experimental Pharma 0
Queuine Experimental Nutra 0

(5) Additional Compounds for QTRT1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7-Aminomethyl-7-carbaguanine
  • 7-DEAZA-7-aminomethyl-guanine
  • 7-Aminomethyl-7-deazaguanine
  • PreQ1
genes like me logo Genes that share compounds with QTRT1: view

Transcripts for QTRT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for QTRT1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QTRT1

Alternative Splicing Database (ASD) splice patterns (SP) for QTRT1 Gene

No ASD Table

Relevant External Links for QTRT1 Gene

GeneLoc Exon Structure for
QTRT1

Expression for QTRT1 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for QTRT1 Gene

mRNA expression in normal human tissues for QTRT1 Gene
mRNA expression by BioGPS for QTRT1 GenemRNA expression by GTEx for QTRT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for QTRT1 Gene



Protein tissue co-expression partners for QTRT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for QTRT1

SOURCE GeneReport for Unigene cluster for QTRT1 Gene:

Hs.631638

Evidence on tissue expression from TISSUES for QTRT1 Gene

  • Nervous system(4.8)
  • Spleen(4.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with QTRT1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for QTRT1 Gene

Orthologs for QTRT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for QTRT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia QTRT1 30 31
  • 99.75 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia QTRT1 30 31
  • 89.8 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia QTRT1 30 31
  • 87.26 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Qtrt1 30
  • 84.25 (n)
Mouse
(Mus musculus)
 Mammalia Qtrt1 30 17 31
  • 83.75 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia QTRT1 31
  • 80 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia QTRT1 31
  • 52 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia QTRT1 31
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia qtrt1 30
  • 68.48 (n)
MGC76136 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7586 30
Zebrafish
(Danio rerio)
 Actinopterygii qtrt1 30 31
  • 68.34 (n)
 OneToOne
zgc66378 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003622 30
  • 63.16 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Tgt 30 31
  • 62.69 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea tgt-1 30 31
  • 52.19 (n)
 OneToOne
Rice
(Oryza sativa)
 Liliopsida Os09g0469900 30
  • 56.93 (n)
Os.32882 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5170 31
  • 61 (a)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU07015 30
  • 58.84 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC1687.19c 30
  • 53.85 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.603 30
Species where no ortholog for QTRT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for QTRT1 Gene

ENSEMBL:
Gene Tree for QTRT1 (if available)
TreeFam:
Gene Tree for QTRT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for QTRT1: view image

Paralogs for QTRT1 Gene

Paralogs for QTRT1 Gene

(20) SIMAP similar genes for QTRT1 Gene using alignment to 7 proteins:

  • TGT_HUMAN
  • B4DFM7_HUMAN
  • K7EJ21_HUMAN
  • K7EL95_HUMAN
  • K7EPI1_HUMAN
  • K7ESP6_HUMAN
  • Q71RF8_HUMAN

Pseudogenes.org Pseudogenes for QTRT1 Gene

genes like me logo Genes that share paralogs with QTRT1: view

Variants for QTRT1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for QTRT1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
714880 Benign: not provided 10,712,748(+) T/C INTRON_VARIANT
777442 Benign: not provided 10,712,797(+) T/C SYNONYMOUS_VARIANT
785607 Benign: not provided 10,702,112(+) T/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for QTRT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for QTRT1 Gene

Variant ID Type Subtype PubMed ID
nsv1061882 CNV gain 25217958
nsv1160584 CNV deletion 26073780
nsv1160585 CNV deletion 26073780
nsv833745 CNV loss 17160897
nsv833746 CNV loss 17160897

Variation tolerance for QTRT1 Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for QTRT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
QTRT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for QTRT1 Gene

Disorders for QTRT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for QTRT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atypical autism
  • pdd
benign epilepsy with centrotemporal spikes
  • centrotemporal epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search QTRT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for QTRT1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with QTRT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for QTRT1 Gene

Publications for QTRT1 Gene

  1. Characterization of the human tRNA-guanine transglycosylase: confirmation of the heterodimeric subunit structure. (PMID: 20354154) Chen YC … Garcia GA (RNA (New York, N.Y.) 2010) 2 3 4 23
  2. Characterization of cDNA encoding the human tRNA-guanine transglycosylase (TGT) catalytic subunit. (PMID: 11255023) Deshpande KL … Katze JR (Gene 2001) 3 4 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3

ExternalLinks

View latest publications for QTRT1 gene in Mastermind

Products for QTRT1 Gene

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Sources for QTRT1 Gene