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    Hsd3b4 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 4 [ Mus musculus (house mouse) ]

    Gene ID: 15495, updated on 8-Feb-2024

    Summary

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    Official Symbol
    Hsd3b4provided by MGI
    Official Full Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 4provided by MGI
    Primary source
    MGI:MGI:96236
    See related
    Ensembl:ENSMUSG00000095143 AllianceGenome:MGI:96236
    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
    Summary
    Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase activity; steroid binding activity; and steroid delta-isomerase activity. Acts upstream of or within response to stilbenoid. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; eye; heart; nervous system; and urinary 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 169.7) See more
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    Genomic context

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    Location:
    3 F2.2; 3 42.79 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (98406387..98417895, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (98499071..98510579, 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 9 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5 pseudogene Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5 pseudogene Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Effects of water restriction on gene expression in mouse renal medulla: identification of 3betaHSD4 as a collecting duct protein. Cai Q, et al. Am J Physiol Renal Physiol, 2006 Jul. PMID 16478974
    2. Modulation of steroidogenic enzymes in murine lymphoid organs after immune activation. Mukhopadhyay R, et al. Immunol Invest, 2009. PMID 19172483
    3. A novel mouse kidney 3 beta-hydroxysteroid dehydrogenase complementary DNA encodes a 3-ketosteroid reductase instead of a 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase. Clarke TR, et al. Mol Endocrinol, 1993 Dec. PMID 8145763
    4. Hormonal regulation of steroidogenic enzyme gene expression in Leydig cells. Payne AH, et al. J Steroid Biochem Mol Biol, 1992 Dec. PMID 22217834
    5. Isolation of a new mouse 3beta-hydroxysteroid dehydrogenase isoform, 3beta-HSD VI, expressed during early pregnancy. Abbaszade IG, et al. Endocrinology, 1997 Apr. PMID 9075693

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data suggest that newly synthesized protein(s) are required for cAMP induction of Hsd3b4 and CYP17 mRNA levels (but not of CYP11A mRNA levels). [REVIEW]
      Title: Hormonal regulation of steroidogenic enzyme gene expression in Leydig cells.
    2. present in the lymphoid organs after immunization with soluble antigen
      Title: Modulation of steroidogenic enzymes in murine lymphoid organs after immune activation.
    3. The steroid hormone enzyme 3beta-hydroxysteroid dehydrogenase 4 (3betaHSD4) was identified as a novel target of vasopressin regulation. Its expression is colocalized in AQP2-expressing collecting ducts of the kidney.
      Title: Effects of water restriction on gene expression in mouse renal medulla: identification of 3betaHSD4 as a collecting duct protein.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    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 C21-steroid hormone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hippocampus development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 response to corticosterone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to stilbenoid IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in steroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in steroid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    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 inner membrane HDA PubMed 
    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 mitochondrion HDA PubMed 
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    NADPH-dependent 3-keto-steroid reductase Hsd3b4
    Names
    3 beta-hydroxysteroid dehydrogenase 4
    3 beta-hydroxysteroid dehydrogenase type 4
    3 beta-hydroxysteroid dehydrogenase type IV
    3-beta-HSD IV
    3-beta-hydroxy-5-ene steroid dehydrogenase
    3-beta-hydroxysteroid dehydrogenase/delta-5-delta-4 isomerase
    NADPH-dependent 3-beta-hydroxy-Delta(5)-steroid dehydrogenase
    dihydrotestosterone 3-ketoreductase
    hydroxysteroid dehydrogenase-4, delta<5>-3-beta
    progesterone reductase
    NP_001104806.1
    NP_032320.1
    XP_017174957.1

    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_001111336.1 → NP_001104806.1  NADPH-dependent 3-keto-steroid reductase Hsd3b4

      See identical proteins and their annotated locations for NP_001104806.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein. An in-frame AUG is located 26 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
      Source sequence(s)
      AA987189, BC132402, BG062444, CA492574
      Consensus CDS
      CCDS17665.1
      UniProtKB/Swiss-Prot
      Q61767
      UniProtKB/TrEMBL
      A0A087WRE2, Q3UIU9
      Conserved Domains (1) summary
      cl21454
      Location:5 → 357
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_008294.2 → NP_032320.1  NADPH-dependent 3-keto-steroid reductase Hsd3b4

      See identical proteins and their annotated locations for NP_032320.1

      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)
      AA987189, AI790807, BC132402
      Consensus CDS
      CCDS17665.1
      UniProtKB/Swiss-Prot
      Q61767
      UniProtKB/TrEMBL
      A0A087WRE2, Q3UIU9
      Related
      ENSMUSP00000142522.2, ENSMUST00000196861.2
      Conserved Domains (1) summary
      cl21454
      Location:5 → 357
      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
      98406387..98417895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017319468.1 → XP_017174957.1  NADPH-dependent 3-keto-steroid reductase Hsd3b4 isoform X1

      UniProtKB/Swiss-Prot
      Q61767
      UniProtKB/TrEMBL
      A0A087WRE2, Q3UIU9
      Related
      ENSMUSP00000136588.2, ENSMUST00000179429.6
      Conserved Domains (1) summary
      cl21454
      Location:5 → 357
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61767.3 GenPept UniProtKB/Swiss-Prot:Q61767

    Gene LinkOut

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