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    GUSBP14 GUSB pseudogene 14 [ Homo sapiens (human) ]

    Gene ID: 11039, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GUSBP14provided by HGNC
    Official Full Name
    GUSB pseudogene 14provided by HGNC
    Primary source
    HGNC:HGNC:54496
    See related
    Ensembl:ENSG00000300022 AllianceGenome:HGNC:54496
    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; SMA4; b55C20.2
    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 24.4), thyroid (RPKM 11.0) and 24 other tissues See more
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    Genomic context

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    See GUSBP14 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (70127462..70290177, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (21350072..22076819)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (69423289..69586004, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene mitochondrial import receptor subunit TOM5 homolog Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:69351921-69352560 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:69352561-69353200 Neighboring gene small EDRK-rich factor 1B Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:69384675-69385378 Neighboring gene survival of motor neuron 2, centromeric Neighboring gene NAIP pseudogene 2 Neighboring gene cadherin 12 pseudogene 3 Neighboring gene uncharacterized LOC124900998 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:69543827-69544328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:69544329-69544828 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene uncharacterized LOC105379021 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:69696534-69697340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:69697341-69698145 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)

    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. Novel transcribed sequences represented in the complex genomic region 5q13. Morrison KE, et al. Biochim Biophys Acta, 1996 Aug 14. PMID 8764824
    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. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article

    See all (8) 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

    • Beta-glucuronidase-like protein SMA4
    • Putative beta-glucuronidase-like protein MGC156142
    • glucuronidase beta pseudogene

    Clone Names

    • FLJ36702, FLJ39772, MGC22265, MGC60382

    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_024054.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon and has an alternate 3' sequence, compared to variant 1. The 5' extension of this variant is not determined.
      Source sequence(s)
      AC140134, X75940

    2. NR_029426.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longer transcript.
      Source sequence(s)
      AC138866, AC140134
      Related
      ENST00000768015.1

    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
      70127462..70290177 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
      559886..614533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007068716.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      21350072..22076819
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_006084.5: Suppressed sequence

      Description
      NG_006084.5: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    2. NG_006962.1: Suppressed sequence

      Description
      NG_006962.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    3. NM_006780.1: Suppressed sequence

      Description
      NM_006780.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    4. NM_021652.2: Suppressed sequence

      Description
      NM_021652.2: 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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