Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hsd17b3provided by MGI
Official Full Name: hydroxysteroid (17-beta) dehydrogenase 3provided by MGI
Primary source: MGI:MGI:107177
See related: Ensembl:ENSMUSG00000033122 AllianceGenome:MGI:107177
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: Enables testosterone dehydrogenase [NAD(P)+] activity. Involved in androgen biosynthetic process. Is active in endoplasmic reticulum membrane. Is expressed in ovary and testis. Used to study 17-beta hydroxysteroid dehydrogenase 3 deficiency. Human ortholog(s) of this gene implicated in 17-beta hydroxysteroid dehydrogenase 3 deficiency and disorder of sexual development. Orthologous to human HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis adult (RPKM 6.2) See more
Orthologs: human all
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Genomic context

Location:: 13 B3; 13 33.26 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (64206088..64237076, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (64058274..64089262, complement)

Chromosome 13 - NC_000079.7 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?

HSD17B1 Compensates for HSD17B3 Deficiency in Fetal Mouse Testis but Not in Adults.
Title: HSD17B1 Compensates for HSD17B3 Deficiency in Fetal Mouse Testis but Not in Adults.
Ablation of the canonical testosterone production pathway via knockout of the steroidogenic enzyme HSD17B3, reveals a novel mechanism of testicular testosterone production.
Title: Ablation of the canonical testosterone production pathway via knockout of the steroidogenic enzyme HSD17B3, reveals a novel mechanism of testicular testosterone production.
The lack of HSD17B3 in male mice results in disturbed Leydig cell maturation and endocrine imbalance akin to humans with HSD17B3 deficiency.
Title: The lack of HSD17B3 in male mice results in disturbed Leydig cell maturation and endocrine imbalance akin to humans with HSD17B3 deficiency.
Enzyme activities of 3-betaHSDH increase as the sound pressure levels increase in adrenal cortex zona fasciculate polygonal cells.
Title: [Effects of infrasound on activities of 3beta hydroxysteroid dehydrogenase and acid phosphatase of polygonal cells in adrenal cortex zona fasciculate in mice].
High 4-tert-Octylphenol doses affect the cytoarchitecture of MA-10 Leydig cells as well as attenuate 3beta-HSD and AR expression.
Title: Octylphenol affects morphology and steroidogenesis in mouse tumor Leydig cells.
Pubertal Cd exposure markedly reduced mRNA and protein levels of testicular StAR, P450scc, P450(17alpha) and 17beta-HSD in mice.
Title: Pubertal cadmium exposure impairs testicular development and spermatogenesis via disrupting testicular testosterone synthesis in adult mice.

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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 (2) 1 citation

General gene information

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Markers

D13Mit224 (e-PCR), detects polymorphism
- UniSTS:127038

NoName (e-PCR)
- UniSTS:493223

Hsd17b3 (e-PCR), detects polymorphism
- UniSTS:267002

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 17-beta-hydroxysteroid dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IEA Inferred from Electronic Annotation more info
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	ISO Inferred from Sequence Orthology more info
enables testosterone 17-beta-dehydrogenase (NADP+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables testosterone 17-beta-dehydrogenase (NADP+) activity	ISO Inferred from Sequence Orthology more info
enables testosterone 17-beta-dehydrogenase (NADP+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables testosterone dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables testosterone dehydrogenase [NAD(P)+] activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in androgen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in steroid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in testosterone biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: 17-beta-hydroxysteroid dehydrogenase type 3

Names: 17(beta)HSD type 3; 17-beta-HSD 3; estradiol 17-beta-dehydrogenase 2; testicular 17-beta-hydroxysteroid dehydrogenase; testosterone 17-beta-dehydrogenase 3

NP_032317.2

EC 1.1.1.62

EC 1.1.1.64

XP_006517171.1

EC 1.1.1.62

EC 1.1.1.64

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_008291.3 → NP_032317.2 17-beta-hydroxysteroid dehydrogenase type 3

See identical proteins and their annotated locations for NP_032317.2

Status: VALIDATED

Source sequence(s)

BB041573, BB621153, U66827

Consensus CDS

CCDS26594.1

UniProtKB/Swiss-Prot

G3UWF9, P70385

Related

ENSMUSP00000132011.2, ENSMUST00000166224.8

Conserved Domains (2) summary

cd05356
Location:44 → 280

17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

pfam00106
Location:45 → 236

adh_short; short chain dehydrogenase

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_000079.7 Reference GRCm39 C57BL/6J

Range

64206088..64237076 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006517108.3 → XP_006517171.1 17-beta-hydroxysteroid dehydrogenase type 3 isoform X1

Conserved Domains (1) summary

cd05356
Location:86 → 268

17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs