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GUSBP4 GUSB pseudogene 4 [ Homo sapiens (human) ]

Gene ID: 375513, updated on 10-Oct-2023

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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Location:
6p11.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (57908553..57936929, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (57747298..57775676, complement)
105.20220307 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)

Genotypes

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_2023_10

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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