Hsd3b6 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hsd3b6provided by MGI
Official Full Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6provided by MGI
Primary source: MGI:MGI:109598
See related: Ensembl:ENSMUSG00000027869 AllianceGenome:MGI:109598
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 (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. Predicted to be located in several cellular components, including intercellular bridge; mitochondrial envelope; and nucleolus. Predicted to be active in cytoplasm and intracellular membrane-bounded organelle. Is expressed in several structures, including alimentary system; brain; cardiovascular system; extraembryonic component; and genitourinary 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 testis adult (RPKM 30.9), liver E18 (RPKM 22.0) and 8 other tissues See more
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Genomic context

Location:: 3 F2.2; 3 42.88 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (98712820..98721759, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (98805504..98814443, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

The results demonstrated that ZnT7 gene silencing downregulated the expression of StAR, P450scc and 3beta-HSD as well as progesterone concentrations in the human chorionic gonadotrophin-stimulated Leydig tumor cells.
Title: A potential role for zinc transporter 7 in testosterone synthesis in mouse Leydig tumor cells.
Hsd3b6 is localized in multiple specific tissues and cell types.
Title: Immunolocalization of murine type VI 3β-hydroxysteroid dehydrogenase in the adrenal gland, testis, skin, and placenta.
a novel 3beta-hydroxyl-steroid dehydrogenase (3beta-Hsd) gene under clock control is severely overexpressed specifically in aldosterone-producing cells in the adrenal cortex, leading to hyperaldosteronism and ultimately to salt-sensitive hypertension
Title: Hypertension due to loss of clock: novel insight from the molecular analysis of Cry1/Cry2-deleted mice.
with Cry gene inactivation results in dyregulation, and abnormally high plasma aldosterone concentration and salt-sensitive hypertension
Title: Salt-sensitive hypertension in circadian clock-deficient Cry-null mice involves dysregulated adrenal Hsd3b6.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3) 1 citation

General gene information

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Markers

Hsd3b6 (e-PCR), detects polymorphism
- UniSTS:531474

Hsd3b6 (e-PCR), detects polymorphism
- UniSTS:531494

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

D19210 (e-PCR)
- UniSTS:124791

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

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

D19210 (e-PCR)
- UniSTS:178892

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	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 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 6

Names: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type VI; 3-beta-HSD VI; 3beta-HSD VI; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 pseudogene; hydroxysteroid dehydrogenase-6, delta<5>-3-beta

NP_038849.2

EC 1.1.1.145

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_013821.3 → NP_038849.2 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 6

See identical proteins and their annotated locations for NP_038849.2

Status: VALIDATED

Source sequence(s)

AK142267, BC053501

Consensus CDS

CCDS17669.1

UniProtKB/Swiss-Prot

O35469, Q3UQN7

UniProtKB/TrEMBL

Q76CU3, Q7TPU0

Related

ENSMUSP00000029463.7, ENSMUST00000029463.13

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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

98712820..98721759 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_017291.1: Suppressed sequence

Description

NG_017291.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.