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

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: human all
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Genomic context

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Low-dose radiation-induced demethylation of 3beta-HSD participated in the regulation of testosterone content.
Title: Low-dose radiation-induced demethylation of 3β-HSD participated in the regulation of testosterone content.
On the basis of these results, we concluded that BDNF, acting as an autocrine factor, induced testosterone generation as a result of the upregulation of Star, Hsd3b1, and Cyp11a1 via stimulation of the ERK1/2 pathway.
Title: Brain-derived neurotrophic factor: A steroidogenic regulator of Leydig cells.
In the mouse Leydig cells, Hsd3b1 (Hsd3b type 1) is expressed both in fetal Leydig cells (FLCs) and adult Leydig cells (ALCs), whereas Hsd3b6 (Hsd3b type 6) is expressed in ALCs but not in FLCs.
Title: Three populations of adult Leydig cells in mouse testes revealed by a novel mouse HSD3B1-specific rat monoclonal antibody.
LH induction of 3beta-HSD in nonpregnant mouse endometrium.
Title: Expression of LH receptor in nonpregnant mouse endometrium: LH induction of 3β-HSD and de novo synthesis of progesterone.
HIF-1alpha is constitutively present in the Leydig cells of the murine testis, where it potentially regulates Hsd3b1 transcription, and thus male reproductive function.
Title: Hypoxia-inducible factor-1alpha is constitutively expressed in murine Leydig cells and regulates 3beta-hydroxysteroid dehydrogenase type 1 promoter activity.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hsd3b1 (e-PCR), detects polymorphism
- UniSTS:464678

Hsd3b1 (e-PCR), detects polymorphism
- UniSTS:257097

Hsd3b1 (e-PCR), detects polymorphism
- UniSTS:257098

Hsd3b1 (e-PCR), detects polymorphism
- UniSTS:257099

Hsd3b2 (e-PCR), detects polymorphism
- UniSTS:256372

UniSTS:256890 (e-PCR)
- UniSTS:256890

Hsd3b1 (e-PCR), detects polymorphism
- UniSTS:256890

RH127283 (e-PCR)
- UniSTS:167358

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 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 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	IDA Inferred from Direct Assay more info	PubMed
enables steroid delta-isomerase activity	ISO Inferred from Sequence Orthology more info
enables testosterone dehydrogenase [NAD(P)+] 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 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 more info	PubMed
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 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

EC 1.1.1.145

EC 1.1.1.210

EC 1.1.1.270

EC 5.3.3.1

NP_032319.1

EC 1.1.1.145

EC 1.1.1.210

EC 1.1.1.270

EC 5.3.3.1

XP_006501099.1

EC 1.1.1.145

EC 1.1.1.210

EC 1.1.1.270

EC 5.3.3.1

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)

NM_001304800.1 → NP_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:5 → 357

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_008293.4 → NP_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: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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

98749672..98767110 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501036.3 → XP_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:5 → 357

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins