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    Hsd3b8 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 8 [ Mus musculus (house mouse) ]

    Gene ID: 100043456, updated on 17-Aug-2024

    Summary

    Official Symbol
    Hsd3b8provided by MGI
    Official Full Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 8provided by MGI
    Primary source
    MGI:MGI:3711284
    See related
    Ensembl:ENSMUSG00000095388 AllianceGenome:MGI:3711284
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hsd3b4; Gm10681
    Summary
    Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase activity and steroid delta-isomerase activity. Predicted to be located in several cellular components, including intercellular bridge; mitochondrial envelope; and nucleolus. Is expressed in several structures, including alimentary system; eye; heart; integumental system; and nervous system. Human ortholog(s) of this gene implicated in hypertension and hypospadias. Orthologous to human HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) and HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward kidney adult (RPKM 519.4) See more
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    Genomic context

    See Hsd3b8 in Genome Data Viewer
    Location:
    3 F2.2; 3 42.8 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (98459858..98471366, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (98552542..98564050, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene zinc finger protein 697 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 4 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5 pseudogene Neighboring gene predicted gene 5853 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables steroid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables steroid delta-isomerase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in progesterone metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of steroid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in steroid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intercellular bridge ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase-like
    Names
    3 beta-hydroxysteroid dehydrogenase type 4
    3 beta-hydroxysteroid dehydrogenase type IV
    3-beta-HSD IV
    3-beta-hydroxy-5-ene steroid dehydrogenase
    NADPH-dependent 3-beta-hydroxy-Delta(5)-steroid dehydrogenase
    Progesterone reductase
    NP_001257358.1
    XP_006500871.1
    XP_017174900.1

    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.

    mRNA and Protein(s)

    1. NM_001270429.1NP_001257358.1  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase-like

      See identical proteins and their annotated locations for NP_001257358.1

      Status: VALIDATED

      Source sequence(s)
      AC139379
      Consensus CDS
      CCDS57247.1
      UniProtKB/Swiss-Prot
      Q61767
      UniProtKB/TrEMBL
      A0A087WRE2, Q3UIU9
      Related
      ENSMUSP00000055886.6, ENSMUST00000058728.10
      Conserved Domains (1) summary
      cl21454
      Location:5357
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      98459858..98471366 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017319411.1XP_017174900.1  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase-like isoform X2

      UniProtKB/Swiss-Prot
      Q61767
      UniProtKB/TrEMBL
      A0A087WRE2, Q3UIU9
      Conserved Domains (1) summary
      cl21454
      Location:5357
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. XM_006500808.2XP_006500871.1  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase-like isoform X1

      See identical proteins and their annotated locations for XP_006500871.1

      Conserved Domains (1) summary
      cl21454
      Location:31383
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins