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    URAHP urate (hydroxyiso-) hydrolase, pseudogene [ Homo sapiens (human) ]

    Gene ID: 100130015, updated on 12-Sep-2024

    Summary

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    Official Symbol
    URAHPprovided by HGNC
    Official Full Name
    urate (hydroxyiso-) hydrolase, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:43695
    See related
    Ensembl:ENSG00000290738 MIM:615805; AllianceGenome:HGNC:43695
    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
    URAH
    Summary
    Predicted to enable hydroxyisourate hydrolase activity. Predicted to be involved in allantoin metabolic process; purine-containing compound catabolic process; and urate catabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 5.1), testis (RPKM 4.4) and 25 other tissues See more
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    Genomic context

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    Location:
    16q24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (90039761..90047783, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (96125974..96133996, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (90106169..90114191, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46902 Neighboring gene dysbindin domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7936 Neighboring gene Sharpr-MPRA regulatory region 21 Neighboring gene growth arrest specific 8 Neighboring gene GAS8 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:90112831-90113344 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:90123853-90125052 Neighboring gene PR/SET domain 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:90148312-90148967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:90148968-90149622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90159897-90160670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90160671-90161443 Neighboring gene tubulin beta 8 class VIII pseudogene 7

    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. The evolutionary fate of the genes encoding the purine catabolic enzymes in hominoids, birds, and reptiles. Keebaugh AC, et al. Mol Biol Evol, 2010 Jun. PMID 20106906, Free PMC Article
    2. Completing the uric acid degradation pathway through phylogenetic comparison of whole genomes. Ramazzina I, et al. Nat Chem Biol, 2006 Mar. PMID 16462750
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Other Names

    • 5-hydroxyisourate hydrolase pseudogene
    • HIU 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.

    RNA

    1. NR_027335.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon and uses an alternate splice site in the 3' region, compared to variant 1.
      Source sequence(s)
      AC133919, BC044232
      Related
      ENST00000409873.5

    2. NR_027336.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AC133919, AK304171, DC393803
      Related
      ENST00000517889.5

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      90039761..90047783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      96125974..96133996 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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