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    GUSBP3 GUSB pseudogene 3 [ Homo sapiens (human) ]

    Gene ID: 653188, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GUSBP3provided by HGNC
    Official Full Name
    GUSB pseudogene 3provided by HGNC
    Primary source
    HGNC:HGNC:37301
    See related
    Ensembl:ENSG00000290560 AllianceGenome:HGNC:37301
    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
    SMA3; GUSBP1
    Expression
    Broad expression in testis (RPKM 23.2), thyroid (RPKM 10.1) and 24 other tissues See more
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    Genomic context

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    See GUSBP3 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (69639463..69710527, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (70465249..70536305, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (68935290..69006354, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68928896-68929561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68929562-68930228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68930229-68930894 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68937559-68938060 Neighboring gene NAIP pseudogene 3 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene uncharacterized LOC124900997 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:68958303-68958856 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:69005506-69006322 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:69006323-69007139 Neighboring gene NANOG hESC enhancer GRCh37_chr5:69068631-69069132 Neighboring gene uncharacterized LOC105379623 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:69139757-69140580 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:69185827-69186428 Neighboring gene uncharacterized LOC124900996 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene

    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. Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5. Pizzuti A, et al. Biochem Biophys Res Commun, 1995 Jan 5. PMID 7818533
    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. A provisional transcript map of the spinal muscular atrophy (SMA) critical region. van der Steege G, et al. Eur J Hum Genet, 1995. PMID 7552146
    4. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article

    See all (12) 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 inactive beta-glucuronidase-like protein SMA3
    • glucuronidase, beta pseudogene 3

    Clone Names

    • FLJ42136, MGC22265

    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_027386.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC139495
      Related
      ENST00000798592.1

    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
      69639463..69710527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791777.1 Reference GRCh38.p14 PATCHES

      Range
      1004006..1076172 complement
      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
      639240..645842 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
      49394..121540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      70465249..70536305 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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