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    QTRT2 queuine tRNA-ribosyltransferase accessory subunit 2 [ Homo sapiens (human) ]

    Gene ID: 79691, updated on 5-Mar-2024

    Summary

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    Official Symbol
    QTRT2provided by HGNC
    Official Full Name
    queuine tRNA-ribosyltransferase accessory subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:25771
    See related
    Ensembl:ENSG00000151576 AllianceGenome:HGNC:25771
    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
    QTRTD1
    Summary
    This gene encodes a 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. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in lymph node (RPKM 5.0), spleen (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q13.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (114056737..114088422)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116778012..116809687)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113775584..113807269)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20265 Neighboring gene ATP5PB pseudogene 8 Neighboring gene uncharacterized LOC105374048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:113777633-113778132 Neighboring gene NANOG hESC enhancer GRCh37_chr3:113829766-113830267 Neighboring gene H2B histone pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113871254-113871787 Neighboring gene dopamine receptor D3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:113873145-113873654 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:113873655-113874164

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. 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. Chen YC, et al. Nucleic Acids Res, 2011 Apr. PMID 21131277, Free PMC Article
    2. Characterization of the human tRNA-guanine transglycosylase: confirmation of the heterodimeric subunit structure. Chen YC, et al. RNA, 2010 May. PMID 20354154, Free PMC Article
    3. Queuosine formation in eukaryotic tRNA occurs via a mitochondria-localized heteromeric transglycosylase. Boland C, et al. J Biol Chem, 2009 Jul 3. PMID 19414587, Free PMC Article
    4. An integrative method for scoring candidate genes from association studies: application to warfarin dosing. Tatonetti NP, et al. BMC Bioinformatics, 2010 Oct 28. PMID 21044367, Free PMC Article
    5. Human ISG15 conjugation targets both IFN-induced and constitutively expressed proteins functioning in diverse cellular pathways. Zhao C, et al. Proc Natl Acad Sci U S A, 2005 Jul 19. PMID 16009940, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
    2. 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.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12960

    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 binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables tRNA-guanosine(34) queuine transglycosylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    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 
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    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 accessory subunit 2
    Names
    queuine tRNA-ribosyltransferase domain containing 1
    NP_001243764.1
    NP_001243765.1
    NP_001243766.1
    NP_078914.1
    XP_047304889.1
    XP_047304890.1
    XP_047304891.1
    XP_047304892.1
    XP_054203857.1
    XP_054203858.1
    XP_054203859.1
    XP_054203860.1

    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)

    1. NM_001256835.2 → NP_001243764.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon in the 5' region and initiates translation at an upstream start codon, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      BC034559, BC039265, DC400836
      Consensus CDS
      CCDS58844.1
      UniProtKB/Swiss-Prot
      Q9H974
      Related
      ENSP00000420682.1, ENST00000485050.5
      Conserved Domains (1) summary
      pfam01702
      Location:146 → 420
      TGT; Queuine tRNA-ribosyltransferase

    2. NM_001256836.2 → NP_001243765.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform 3

      See identical proteins and their annotated locations for NP_001243765.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks four consecutive internal exons and initiates translation at an upstream start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK296938, BC034559, BC039265, DC400836
      Consensus CDS
      CCDS58845.1
      UniProtKB/Swiss-Prot
      Q9H974
      Related
      ENSP00000419169.1, ENST00000493014.1
      Conserved Domains (1) summary
      pfam01702
      Location:28 → 302
      TGT; Queuine tRNA-ribosyltransferase

    3. NM_001256837.2 → NP_001243766.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform 4

      See identical proteins and their annotated locations for NP_001243766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two internal exons, uses an alternate splice site and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK299313, BC034559, BC039265, DC400836
      Consensus CDS
      CCDS58846.1
      UniProtKB/Swiss-Prot
      Q9H974
      Related
      ENSP00000418056.1, ENST00000479882.5
      Conserved Domains (1) summary
      pfam01702
      Location:11 → 285
      TGT; Queuine tRNA-ribosyltransferase

    4. NM_024638.4 → NP_078914.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_078914.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      BC034559, BC039265, DC400836
      Consensus CDS
      CCDS33828.1
      UniProtKB/Swiss-Prot
      A6NGE9, B7Z472, B7Z5R2, J3KR78, Q6IA59, Q9H974
      Related
      ENSP00000281273.4, ENST00000281273.8
      Conserved Domains (1) summary
      pfam01702
      Location:13 → 413
      TGT; Queuine tRNA-ribosyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      114056737..114088422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448934.1 → XP_047304890.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform X2

    2. XM_047448936.1 → XP_047304892.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform X3

    3. XM_047448933.1 → XP_047304889.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform X1

    4. XM_047448935.1 → XP_047304891.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      116778012..116809687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347883.1 → XP_054203858.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform X2

    2. XM_054347885.1 → XP_054203860.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform X3

    3. XM_054347882.1 → XP_054203857.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform X1

    4. XM_054347884.1 → XP_054203859.1  queuine tRNA-ribosyltransferase accessory subunit 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H974.1 GenPept UniProtKB/Swiss-Prot:Q9H974

    Gene LinkOut

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