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    GUSBP1 GUSB pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 728411, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GUSBP1provided by HGNC
    Official Full Name
    GUSB pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:13670
    See related
    Ensembl:ENSG00000291102 AllianceGenome:HGNC:13670
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be involved in nervous system development and skeletal system development. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 5.6), ovary (RPKM 2.3) and 24 other tissues See more
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    Genomic context

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    See GUSBP1 in Genome Data Viewer
    Location:
    5p14.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (21459513..21589372)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (21465309..21696579)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (21459622..21589481)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723561 Neighboring gene uncharacterized LOC124900950 Neighboring gene MPRA-validated peak5181 silencer Neighboring gene uncharacterized LOC124900951 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:21325279-21325852 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:21471616-21472269 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:21481591-21482218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:21482219-21482846 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:21485356-21485982 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:21485983-21486609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:21484729-21485355 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:21494970-21495648 Neighboring gene uncharacterized LOC124900949 Neighboring gene uncharacterized LOC105374685 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:21614040-21614968 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:21813195-21813389 Neighboring gene uncharacterized LOC105374683 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:21823845-21825044 Neighboring gene cadherin 12

    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. A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene. Sargent CA, et al. Mamm Genome, 1994 Dec. PMID 7894161
    3. 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
    4. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022
    5. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article

    See all (13) 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

    • Putative beta-glucuronidase-like protein MGC87375
    • glucuronidase, beta pseudogene 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.

    RNA

    1. NR_027026.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AC091946, AK095656, AK302866, BX109638, DA358891
      Related
      ENST00000607545.6

    2. NR_027027.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' splice pattern, compared to variant 1.
      Source sequence(s)
      AC138951, BC052307, BQ012501, DA358891
      Related
      ENST00000688960.2

    3. NR_027028.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 3' splice pattern, compared to variant 1. Based on other transcripts from this locus and based on alignment of parent gene transcripts, this pseudogene transcript may be 3' incomplete.
      Source sequence(s)
      AC138951, BC147000, DA358891

    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
      21459513..21589372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107297.1 Reference GRCh38.p14 PATCHES

      Range
      8847..238512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      639969..645843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      21465309..21696579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_008324.1: Suppressed sequence

      Description
      NG_008324.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    2. NM_207331.2: Suppressed sequence

      Description
      NM_207331.2: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    3. NR_003656.1: Suppressed sequence

      Description
      NR_003656.1: This RefSeq was permanently suppressed because there is insufficient evidence that this locus is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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