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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 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)

Genotypes

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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