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    UOX urate oxidase (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 391051, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UOXprovided by HGNC
    Official Full Name
    urate oxidase (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:12575
    See related
    MIM:191540; AllianceGenome:HGNC:12575
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UOXP; URICASE
    Summary
    Urate oxidase is an enzyme that catalyzes the oxidation of uric acid to allantoin. This gene has been inactivated by mutation and is nonfunctional in humans and some other primates. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See UOX in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (84364958..84384801, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (84205437..84225268, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (84830641..84850484, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA2/SNORA34 family Neighboring gene MPRA-validated peak299 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1018 Neighboring gene sterile alpha motif domain containing 13 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:84830842-84832041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1249 Neighboring gene Sharpr-MPRA regulatory region 5400 Neighboring gene deoxyribonuclease 2 beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1250 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:84944610-84945170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1252 Neighboring gene ribosome production factor 1 homolog Neighboring gene G protein subunit gamma 5

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Do thrifty genes exist? Revisiting uricase.
      Title: Do thrifty genes exist? Revisiting uricase.
    2. gene lie head-to-head with the DLAD gene
      Title: Isolation and characterization of the DLAD/Dlad genes, which lie head-to-head with the genes for urate oxidase.
    3. inactivation of the hominoid Uox gene was caused by independent nonsense or frameshift mutations
      Title: Loss of urate oxidase activity in hominoids and its evolutionary implications.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    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.

    RNA

    1. NR_003927.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AI208826, BG217060, BQ271106, BQ271399, DA213918, DR731267, DV080048, DV080712

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      84364958..84384801 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      84205437..84225268 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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