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    QNG1 Q-nucleotide N-glycosylase 1 [ Homo sapiens (human) ]

    Gene ID: 84267, updated on 2-Nov-2024

    Summary

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    Official Symbol
    QNG1provided by HGNC
    Official Full Name
    Q-nucleotide N-glycosylase 1provided by HGNC
    Primary source
    HGNC:HGNC:28144
    See related
    Ensembl:ENSG00000165118 MIM:611342; AllianceGenome:HGNC:28144
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C9orf64
    Summary
    Predicted to enable hydrolase activity. Involved in nucleoside salvage. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 8.0), small intestine (RPKM 7.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See QNG1 in Genome Data Viewer
    Location:
    9q21.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (83938311..83956986, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (96088591..96107266, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86553226..86571901, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900638 Neighboring gene kinesin family member 27 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:86535879-86536628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:86537243-86537747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86577603-86578233 Neighboring gene HNRNPK antisense RNA 1 Neighboring gene heterogeneous nuclear ribonucleoprotein K Neighboring gene microRNA 7-1

    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 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. Structural basis of Qng1-mediated salvage of the micronutrient queuine from queuosine-5'-monophosphate as the biological substrate. Hung SH, et al. Nucleic Acids Res, 2023 Jan 25. PMID 36610787, Free PMC Article
    2. Incomplete DNA methylation underlies a transcriptional memory of somatic cells in human iPS cells. Ohi Y, et al. Nat Cell Biol, 2011 May. PMID 21499256, Free PMC Article
    3. 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
    4. Plant, animal, and fungal micronutrient queuosine is salvaged by members of the DUF2419 protein family. Zallot R, et al. ACS Chem Biol, 2014 Aug 15. PMID 24911101, Free PMC Article
    5. New insights on the functional role of URG7 in the cellular response to ER stress. Armentano MF, et al. Biol Cell, 2018 Jul. PMID 29704455

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis of Qng1-mediated salvage of the micronutrient queuine from queuosine-5'-monophosphate as the biological substrate.
      Title: Structural basis of Qng1-mediated salvage of the micronutrient queuine from queuosine-5'-monophosphate as the biological substrate.
    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

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC10999

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in nucleoside salvage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tRNA-guanine transglycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    queuosine 5'-phosphate N-glycosylase/hydrolase
    Names
    UPF0553 protein C9orf64
    queuine salvage protein QNG1
    queuosine salvage protein
    queuosine-nucleotide N-glycosylase/hydrolase
    NP_001304926.1
    NP_115683.3
    XP_005252328.1
    XP_054219957.1

    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_001317997.2 → NP_001304926.1  queuosine 5'-phosphate N-glycosylase/hydrolase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK090882, AL354733, BC004407, BX116423
      Consensus CDS
      CCDS83381.1
      UniProtKB/TrEMBL
      Q5T6V7
      Related
      ENSP00000318375.1, ENST00000314700.5
      Conserved Domains (1) summary
      pfam10343
      Location:1 → 200
      Q_salvage; Potential Queuosine, Q, salvage protein family

    2. NM_032307.5 → NP_115683.3  queuosine 5'-phosphate N-glycosylase/hydrolase isoform 1

      See identical proteins and their annotated locations for NP_115683.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL354733, BC004407, BG709062, BX116423
      Consensus CDS
      CCDS6666.2
      UniProtKB/Swiss-Prot
      B2RPI6, Q5T6V5, Q8N2B1, Q9BT18
      Related
      ENSP00000365522.3, ENST00000376344.8
      Conserved Domains (1) summary
      pfam10343
      Location:55 → 338
      Q_salvage; Potential Queuosine, Q, salvage protein family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      83938311..83956986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252271.5 → XP_005252328.1  queuosine 5'-phosphate N-glycosylase/hydrolase isoform X1

      Conserved Domains (1) summary
      pfam10343
      Location:55 → 199
      Q_salvage; Potential Queuosine, Q, salvage protein family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      96088591..96107266 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363982.1 → XP_054219957.1  queuosine 5'-phosphate N-glycosylase/hydrolase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T6V5.1 GenPept UniProtKB/Swiss-Prot:Q5T6V5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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