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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 11-Apr-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 activity and steroid delta-isomerase activity. Predicted to be involved in several processes, including hippocampus development; response to corticosterone; and steroid hormone biosynthetic process. Located in mitochondrial inner membrane. Is expressed in adrenal gland; liver; 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, Apr 2022]
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 activity ISO
Inferred from Sequence Orthology
more info
  
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables cholesterol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
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 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 hippocampus development IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of iron ion transport ISO
Inferred from Sequence Orthology
more info
  
involved_in response to corticosterone IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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 membrane IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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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