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    GUSBP15 GUSB pseudogene 15 [ Homo sapiens (human) ]

    Gene ID: 11042, updated on 22-Oct-2024

    Summary

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    Official Symbol
    GUSBP15provided by HGNC
    Official Full Name
    GUSB pseudogene 15provided by HGNC
    Primary source
    HGNC:HGNC:54497
    See related
    Ensembl:ENSG00000300109 AllianceGenome:HGNC:54497
    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
    SMA5
    Expression
    Broad expression in testis (RPKM 23.3), thyroid (RPKM 11.3) and 23 other tissues See more
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    Genomic context

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    See GUSBP15 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (70481043..70585722, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (70647902..71453019)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (69776870..69881549, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr5:69711172-69711802 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:69711803-69712431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:69712702-69713202 Neighboring gene general transcription factor IIH subunit 2B (pseudogene) Neighboring gene NAIP pseudogene 1 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene putative POM121-like protein 1-like Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene uncharacterized LOC124900995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:69829046-69829546 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:69834469-69834970 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:69834971-69835470 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene uncharacterized LOC105379020 Neighboring gene uncharacterized LOC107986355 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:70014914-70015730

    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. Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13. Speleman F, et al. Cytogenet Cell Genet, 1996. PMID 8565635
    2. Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13. Theodosiou AM, et al. Am J Hum Genet, 1994 Dec. PMID 7977382, Free PMC Article
    3. Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. Shipley JM, et al. Am J Hum Genet, 1993 Mar. PMID 7680524, Free PMC Article
    4. Characterization of SARS-CoV-2 proteins reveals Orf6 pathogenicity, subcellular localization, host interactions and attenuation by Selinexor. Lee JG, et al. Cell Biosci, 2021 Mar 25. PMID 33766124, Free PMC Article
    5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197

    See all (6) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • glucuronidase beta pseudogene

    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_034021.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC146944
      Related
      ENST00000768876.1

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      70481043..70585722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      49474..544668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      70647902..71453019
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_005993.4: Suppressed sequence

      Description
      NG_005993.4: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    2. NM_021036.1: Suppressed sequence

      Description
      NM_021036.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version

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