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

Gene ID: 84267, updated on 5-Mar-2024

Summary

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 be involved in tRNA-guanine transglycosylation. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in duodenum (RPKM 8.0), small intestine (RPKM 7.8) and 24 other tissues See more
Orthologs
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Genomic context

Location:
9q21.32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (83938311..83956986, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (96088591..96107266, complement)
105.20220307 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

Expression

  • 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

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

Preferred Names
queuosine 5'-phosphate N-glycosylase/hydrolase
Names
UPF0553 protein C9orf64
queuine salvage protein QNG1
queuosine salvage protein
queuosine-nucleotide N-glycosylase/hydrolase

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_001317997.2NP_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:1200
    Q_salvage; Potential Queuosine, Q, salvage protein family
  2. NM_032307.5NP_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:55338
    Q_salvage; Potential Queuosine, Q, salvage protein family

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_000009.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam10343
    Location:55199
    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_054363982.1XP_054219957.1  queuosine 5'-phosphate N-glycosylase/hydrolase isoform X1