Hsd17b1 hydroxysteroid (17-beta) dehydrogenase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hsd17b1provided by MGI
Official Full Name: hydroxysteroid (17-beta) dehydrogenase 1provided by MGI
Primary source: MGI:MGI:105077
See related: Ensembl:ENSMUSG00000019301 AllianceGenome:MGI:105077
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: E2DH; 17HSDB1; Hsd17ba; 17beta-HSD
Summary: Enables 17-beta-hydroxysteroid dehydrogenase (NADP+) activity; estradiol 17-beta-dehydrogenase [NAD(P)+] activity; and testosterone dehydrogenase [NAD(P)+] activity. Involved in estrogen biosynthetic process and testosterone biosynthetic process. Acts upstream of or within several processes, including adipose tissue development; lysosome organization; and skeletal muscle tissue development. Predicted to be active in cytosol. Is expressed in several structures, including adrenal gland; reproductive system; spleen; submandibular gland; and trachea. Orthologous to human HSD17B1 (hydroxysteroid 17-beta dehydrogenase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward ovary adult (RPKM 78.1) See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 64.17 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (100968792..100972014)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (101077968..101081188)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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.
Based on the data we propose that the Hsd17b1 gene includes a regulatory element controlling Naglu expression and the metabolic phenotype in mice lacking the Hsd17b1 genomic region is caused by the reduced expression of Naglu rather than the lack of Hsd17b1.
Title: Deleting the mouse Hsd17b1 gene results in a hypomorphic Naglu allele and a phenotype mimicking a lysosomal storage disease.
Mammary-restricted HSD17B1 expression induced lesions at the sites of ducts and alveoli, accompanied by peri- and intraductal inflammation and disruption of the myoepithelial cell layer.
Title: HSD17B1 expression induces inflammation-aided rupture of mammary gland myoepithelium.
These results revealed a novel role for HSD17B1 in the control of spermatogenesis and male fertility, and that Sertoli cells significantly contribute to steroid synthesis in the testis.
Title: Hydroxysteroid (17β) dehydrogenase 1 expressed by Sertoli cells contributes to steroid synthesis and is required for male fertility.
This study indicates that HSD17B1 is a key enzyme in ovarian steroidogenesis and has a novel function in initiation and stabilization of pregnancy
Title: Hydroxysteroid (17β)-dehydrogenase 1-deficient female mice present with normal puberty onset but are severely subfertile due to a defect in luteinization and progesterone production.
Activin A rapidly regulates Hsd17b1 transcription in gonadotrope and granulosa cells and may thereby regulate local 17beta-estradiol synthesis.
Title: Activins regulate 17beta-hydroxysteroid dehydrogenase type I transcription in murine gonadotrope cells.
Urinary catecholamine levels in 11betaHSD2-/- mice were double those in wild-type mice, suggesting that vasoconstriction contributes to the sustained hypertension in this model.
Title: A switch in the mechanism of hypertension in the syndrome of apparent mineralocorticoid excess.
hydroxysteroid (17beta) dehydrogenase 1 has a role in prenatal masculinization and ovarian benign serous cystadenomas
Title: Activation of androgens by hydroxysteroid (17beta) dehydrogenase 1 in vivo as a cause of prenatal masculinization and ovarian benign serous cystadenomas.
17beta-HSD tissue distribution was studied in inbred C57BL mice of both sexes.
Title: Localization of type 7 17beta-hydroxysteroid dehydrogenase in mouse tissues. In situ hybridization studies.
Androgens and estrogens are formed via the action of type 5 17beta-HSD in specific cell types in the liver, ovary, adrenal cortex, and kidney.
Title: Localization of type 5 17beta-hydroxysteroid dehydrogenase mRNA in mouse tissues as studied by in situ hybridization.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Targeted (2)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:495490

U85247 (e-PCR)
- UniSTS:160162

X89627 (e-PCR)
- UniSTS:163516

NoName (e-PCR)
- UniSTS:490686

RH142103 (e-PCR)
- UniSTS:231408

Hsd17b1 (e-PCR), detects polymorphism
- UniSTS:267001

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 17-beta-hydroxysteroid dehydrogenase (NADP+) activity	IDA Inferred from Direct Assay more info	PubMed
enables NADP binding	ISO Inferred from Sequence Orthology more info
enables NADP+ binding	IEA Inferred from Electronic Annotation more info
enables NADP+ binding	ISO Inferred from Sequence Orthology more info
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IBA Inferred from Biological aspect of Ancestor more info
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IDA Inferred from Direct Assay more info	PubMed
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	ISO Inferred from Sequence Orthology more info
enables estradiol binding	IEA Inferred from Electronic Annotation more info
enables estradiol binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables small molecule binding	ISO Inferred from Sequence Orthology more info
enables steroid binding	ISO Inferred from Sequence Orthology more info
enables testosterone 17-beta-dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables testosterone dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables testosterone dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables testosterone dehydrogenase [NAD(P)+] activity	IDA Inferred from Direct Assay more info	PubMed
enables testosterone dehydrogenase [NAD(P)+] activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adipose tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to metal ion	IEA Inferred from Electronic Annotation more info
involved_in estrogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in estrogen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in estrogen biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in testosterone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in testosterone biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 17-beta-hydroxysteroid dehydrogenase type 1

Names: 17-beta-HSD 1; estradiol 17-beta-dehydrogenase 1

NP_034605.1

EC 1.1.1.51

EC 1.1.1.62

XP_006532360.1

EC 1.1.1.51

EC 1.1.1.62

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_010475.2 → NP_034605.1 17-beta-hydroxysteroid dehydrogenase type 1

See identical proteins and their annotated locations for NP_034605.1

Status: VALIDATED

Source sequence(s)

BE691221, X89627

Consensus CDS

CCDS25445.1

UniProtKB/Swiss-Prot

P51656

UniProtKB/TrEMBL

Q3UPP5, Q790P4

Related

ENSMUSP00000019445.6, ENSMUST00000019445.6

Conserved Domains (2) summary

pfam00106
Location:5 → 192

adh_short; short chain dehydrogenase

cl21454
Location:4 → 260

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_000077.7 Reference GRCm39 C57BL/6J

Range

100968792..100972014

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532297.3 → XP_006532360.1 17-beta-hydroxysteroid dehydrogenase type 1 isoform X1

UniProtKB/TrEMBL

Q3UPP5

Conserved Domains (1) summary

cl21454
Location:4 → 200

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