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    Hsd3b3 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3 [ Mus musculus (house mouse) ]

    Gene ID: 15494, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Hsd3b3provided by MGI
    Official Full Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3provided by MGI
    Primary source
    MGI:MGI:96235
    See related
    Ensembl:ENSMUSG00000062410 AllianceGenome:MGI:96235
    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
    9030618K22Rik
    Summary
    Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity and steroid delta-isomerase activity. Predicted to be involved in C21-steroid hormone biosynthetic process; androgen biosynthetic process; and negative regulation of iron ion transport. Located in mitochondrial inner membrane. Is expressed in adrenal gland; embryo; liver; testis; and testis medullary region. 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 liver E18 (RPKM 33.7), liver adult (RPKM 30.8) and 3 other tissues See more
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    Genomic context

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    See Hsd3b3 in Genome Data Viewer
    Location:
    3 F2.2; 3 42.86 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (98648792..98672465, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (98741476..98764540, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes 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 2 Neighboring gene STARR-seq mESC enhancer starr_08481 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 Neighboring gene 14-3-3 protein eta pseudogene

    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. Multiple forms of mouse 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase and differential expression in gonads, adrenal glands, liver, and kidneys of both sexes. Bain PA, et al. Proc Natl Acad Sci U S A, 1991 Oct 15. PMID 1924345, Free PMC Article
    2. 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
    3. Expression of multiple forms of 3 beta-hydroxysteroid dehydrogenase in the mouse liver during fetal and postnatal development. Park CH, et al. Mol Cell Endocrinol, 1996 Feb 5. PMID 8647315
    4. Isolation and characterization of several members of the murine Hsd3b gene family. Clarke TR, et al. DNA Cell Biol, 1996 May. PMID 8924213
    5. The genes encoding gonadal and nongonadal forms of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase are closely linked on mouse chromosome 3. Bain PA, et al. Genomics, 1993 Apr. PMID 8486361

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC107584

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) 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 delta-isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables steroid delta-isomerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in C21-steroid hormone biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in C21-steroid hormone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in androgen biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of iron ion transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in steroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    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 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 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 nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3
    Names
    3 beta-hydroxysteroid dehydrogenase 3
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type III
    3-beta-HSD III
    3-beta-hydroxy-5-ene steroid dehydrogenase
    delta-5-3-ketosteroid isomerase
    hydroxysteroid dehydrogenase-2, delta<5>-3-beta
    progesterone reductase
    steroid delta-isomerase
    NP_001012306.2
    NP_001155214.1
    NP_001155215.1
    NP_001155216.1
    NP_001155217.1
    XP_006501105.2
    XP_017174955.1

    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_001012306.2 → NP_001012306.2  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3 isoform 2

      See identical proteins and their annotated locations for NP_001012306.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame internal exon, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL606755
      Consensus CDS
      CCDS17668.1
      UniProtKB/TrEMBL
      E9PXG7, Q5FW73
      Related
      ENSMUSP00000091592.5, ENSMUST00000094050.11
      Conserved Domains (2) summary
      pfam01073
      Location:7 → 232
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family
      cl21454
      Location:5 → 302
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001161742.1 → NP_001155214.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3 isoform 1

      See identical proteins and their annotated locations for NP_001155214.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AL606755
      Consensus CDS
      CCDS51016.1
      UniProtKB/Swiss-Prot
      P26150
      UniProtKB/TrEMBL
      Q76CU3, Q7TPU0
      Conserved Domains (2) summary
      pfam01073
      Location:7 → 287
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family
      cl21454
      Location:5 → 357
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. NM_001161743.1 → NP_001155215.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3 isoform 1

      See identical proteins and their annotated locations for NP_001155215.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AL606755
      Consensus CDS
      CCDS51016.1
      UniProtKB/Swiss-Prot
      P26150
      UniProtKB/TrEMBL
      Q76CU3, Q7TPU0
      Related
      ENSMUSP00000102633.2, ENSMUST00000107019.8
      Conserved Domains (2) summary
      pfam01073
      Location:7 → 287
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family
      cl21454
      Location:5 → 357
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. NM_001161744.1 → NP_001155216.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3 isoform 1

      See identical proteins and their annotated locations for NP_001155216.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AL606755
      Consensus CDS
      CCDS51016.1
      UniProtKB/Swiss-Prot
      P26150
      UniProtKB/TrEMBL
      Q76CU3, Q7TPU0
      Conserved Domains (2) summary
      pfam01073
      Location:7 → 287
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family
      cl21454
      Location:5 → 357
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    5. NM_001161745.1 → NP_001155217.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3 isoform 1

      See identical proteins and their annotated locations for NP_001155217.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AL606755
      Consensus CDS
      CCDS51016.1
      UniProtKB/Swiss-Prot
      P26150
      UniProtKB/TrEMBL
      Q76CU3, Q7TPU0
      Related
      ENSMUSP00000088246.7, ENSMUST00000090743.13
      Conserved Domains (2) summary
      pfam01073
      Location:7 → 287
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family
      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
      98648792..98672465 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501042.5 → XP_006501105.2  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3 isoform X1

      UniProtKB/TrEMBL
      Q76CU3, Q7TPU0
      Conserved Domains (1) summary
      cl21454
      Location:50 → 402
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. XM_017319466.3 → XP_017174955.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3 isoform X2

      UniProtKB/TrEMBL
      Q76CU3, Q7TPU0
      Conserved Domains (1) summary
      cl21454
      Location:69 → 371
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26150.3 GenPept UniProtKB/Swiss-Prot:P26150

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