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    GUSBP4 GUSB pseudogene 4 [ Homo sapiens (human) ]

    Gene ID: 375513, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GUSBP4provided by HGNC
    Official Full Name
    GUSB pseudogene 4provided by HGNC
    Primary source
    HGNC:HGNC:18220
    See related
    AllianceGenome:HGNC:18220
    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
    GUSBL2; SMA3-L; SMAC3L; C6orf216
    Expression
    Ubiquitous expression in ovary (RPKM 4.4), endometrium (RPKM 4.1) and 25 other tissues See more
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    Genomic context

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    See GUSBP4 in Genome Data Viewer
    Location:
    6p11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (57908553..57936929, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (57747298..57775676, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (58234831..58263207, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375101 Neighboring gene tRNA-Met (anticodon CAT) 7-1 Neighboring gene uncharacterized LOC101927268 Neighboring gene tRNA-Ala (anticodon AGC) 12-3 Neighboring gene LINC00680-GUSBP4 readthrough, transcribed pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:58263882-58264790 Neighboring gene long intergenic non-protein coding RNA 680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24711 Neighboring gene uncharacterized LOC101927293 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 15

    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. 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
    2. 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
    3. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article
    4. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (7) 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

    • XXbac-BPGBPG55C20.2
    • glucuronidase, beta pseudogene 4
    • glucuronidase, beta-like 2
    • spinal muscular atrophy candidate gene 3-like

    Clone Names

    • FLJ13549, FLJ23038, DKFZp547L1213

    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_132999.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AL021368, AW955360, DB060896

    2. NR_133000.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AL021368, DB060896

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      57908553..57936929 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      57747298..57775676 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_206908.2: Suppressed sequence

      Description
      NM_206908.2: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    2. NM_206910.1: Suppressed sequence

      Description
      NM_206910.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    3. NM_206912.1: Suppressed sequence

      Description
      NM_206912.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version

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