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    HSD3BP4 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 [ Homo sapiens (human) ]

    Gene ID: 128102, updated on 10-Oct-2023

    Summary

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    Official Symbol
    HSD3BP4provided by HGNC
    Official Full Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4provided by HGNC
    Primary source
    HGNC:HGNC:5222
    See related
    AllianceGenome:HGNC:5222
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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    Genomic context

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    See HSD3BP4 in Genome Data Viewer
    Location:
    1p12
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (119563880..119572576)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (119577061..119585776)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (120106503..120115199)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 13290 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 27 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 33 Neighboring gene long intergenic non-protein coding RNA 622

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. New members of the 3 beta-hydroxysteroid dehydrogenase gene family. McBride MW, et al. Mol Cell Probes, 1995 Apr. PMID 7603471
    2. Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase. Russell AJ, et al. Endocr Res, 1995 Feb-May. PMID 7588414
    3. Cloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human. McBride MW, et al. Genomics, 1999 Nov 1. PMID 10552929

    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

    General gene information

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    Markers

    Other Names

    • 3 beta-hydroxysteroid dehydrogenase homolog
    • 3-beta-hydroxysteroid dehydrogenase, tissue-type heart
    • hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 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_033781.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL109966

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      119563880..119572576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      119577061..119585776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_005515.2: Suppressed sequence

      Description
      NG_005515.2: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    2. NG_027133.1: Suppressed sequence

      Description
      NG_027133.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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