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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 4-Jun-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
Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase activity and steroid delta-isomerase activity. Predicted to be involved in several processes, including C21-steroid hormone metabolic process; hippocampus development; and response to corticosterone. Predicted to act upstream of or within steroid metabolic 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, Apr 2022]
Expression
Biased expression in adrenal adult (RPKM 1254.1), ovary adult (RPKM 570.9) and 1 other tissue See more
Orthologs
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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

Function Evidence Code Pubs
enables 3-beta-hydroxy-delta5-steroid dehydrogenase activity ISO
Inferred from Sequence Orthology
more info
 
enables 3-keto sterol reductase activity IEA
Inferred from Electronic Annotation
more info
 
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables NAD binding 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 dihydrotestosterone 17-beta-dehydrogenase activity ISO
Inferred from Sequence Orthology
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 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
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
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
 
acts_upstream_of_or_within steroid metabolic 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 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 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 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)

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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_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