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    Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 [ Mus musculus (house mouse) ]

    Gene ID: 15492, updated on 9-Dec-2024

    Summary

    Official Symbol
    Hsd3b1provided by MGI
    Official Full Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1provided by MGI
    Primary source
    MGI:MGI:96233
    See related
    Ensembl:ENSMUSG00000027871 AllianceGenome:MGI:96233
    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
    D3Ertd383e; 3-beta-HSD I
    Summary
    Enables steroid delta-isomerase activity. Involved in androgen biosynthetic process. Located in mitochondrion. Is expressed in several structures, including endocrine gland; genitourinary system; liver; nervous system; and respiratory 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, Dec 2024]
    Expression
    Biased expression in adrenal adult (RPKM 1254.1), ovary adult (RPKM 570.9) and 1 other tissue See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Hsd3b1 in Genome Data Viewer
    Location:
    3 F2.2; 3 42.89 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (98749672..98767110, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (98842356..98859794, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 Neighboring gene 14-3-3 protein eta pseudogene Neighboring gene hydroxyacid oxidase 2 Neighboring gene predicted gene, 31880

    Genomic regions, transcripts, and products

    Expression

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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in C21-steroid hormone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in androgen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in steroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intercellular bridge ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial crista 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 mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1
    Names
    3-beta-hydroxy-5-ene steroid dehydrogenase
    3-beta-hydroxy-Delta(5)-steroid dehydrogenase
    3-beta-hydroxysteroid 3-dehydrogenase
    delta-5-3-ketosteroid isomerase
    dihydrotestosterone oxidoreductase
    steroid Delta-isomerase
    NP_001291729.1
    NP_032319.1
    XP_006501099.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001304800.1NP_001291729.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

      See identical proteins and their annotated locations for NP_001291729.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK146665, AL671965, BC052659
      Consensus CDS
      CCDS17670.1
      UniProtKB/Swiss-Prot
      P24815, Q7TQ00
      UniProtKB/TrEMBL
      A2AEP8, Q3UI20, Q3UJ12
      Related
      ENSMUSP00000029465.8, ENSMUST00000029465.10
      Conserved Domains (1) summary
      cl21454
      Location:5357
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. NM_008293.4NP_032319.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

      See identical proteins and their annotated locations for NP_032319.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK147114, BC052659
      Consensus CDS
      CCDS17670.1
      UniProtKB/Swiss-Prot
      P24815, Q7TQ00
      UniProtKB/TrEMBL
      A2AEP8, Q3UI20, Q3UJ12
      Related
      ENSMUSP00000102630.4, ENSMUST00000107016.10
      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
      98749672..98767110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501036.3XP_006501099.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 isoform X1

      See identical proteins and their annotated locations for XP_006501099.1

      UniProtKB/Swiss-Prot
      P24815, Q7TQ00
      UniProtKB/TrEMBL
      A2AEP8, Q3UI20, Q3UJ12
      Conserved Domains (1) summary
      cl21454
      Location:5357
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins