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

Gene ID: 15485, updated on 5-Mar-2024

Summary

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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 and testosterone dehydrogenase [NAD(P)] activity. Involved in estrogen biosynthetic process and testosterone biosynthetic process. Predicted to be located in cytosol. Is expressed in several structures, including adrenal gland; genitourinary system; spleen; submandibular gland; and trachea. Orthologous to human HSD17B1 (hydroxysteroid 17-beta dehydrogenase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward ovary adult (RPKM 78.1) See more
Orthologs
human all
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Genomic context

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See Hsd17b1 in Genome Data Viewer
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_000077.7Genomic Context describing neighboring genes Neighboring gene ATPase, H+ transporting, lysosomal V0 subunit A1 Neighboring gene microRNA 6928 Neighboring gene STARR-positive B cell enhancer ABC_E10714 Neighboring gene STARR-positive B cell enhancer ABC_E8456 Neighboring gene alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:100943626-100943809 Neighboring gene STARR-positive B cell enhancer ABC_E7065 Neighboring gene Coenzyme A synthase Neighboring gene proteasome (prosome, macropain) 26S subunit, ATPase 3, interacting protein Neighboring gene MAX-like protein X

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Hydroxysteroid (17β) dehydrogenase 1 expressed by Sertoli cells contributes to steroid synthesis and is required for male fertility. Hakkarainen J, et al. FASEB J, 2018 Jun. PMID 29401623
  2. HSD17B1 expression induces inflammation-aided rupture of mammary gland myoepithelium. Järvensivu P, et al. Endocr Relat Cancer, 2018 Apr. PMID 29371331
  3. 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. Hakkarainen J, et al. FASEB J, 2015 Sep. PMID 26018678
  4. Novel hydroxysteroid (17beta) dehydrogenase 1 inhibitors reverse estrogen-induced endometrial hyperplasia in transgenic mice. Saloniemi T, et al. Am J Pathol, 2010 Mar. PMID 20093485, Free PMC Article
  5. In vivo mouse model for analysis of hydroxysteroid (17beta) dehydrogenase 1 inhibitors. Lamminen T, et al. Mol Cell Endocrinol, 2009 Mar 25. PMID 19026716

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. cellular localization of 17beta-HSD mRNA type 1 expression in the ovary, testis, skin, prostate and pituitary gland
    Title: Localization of 17beta-hydroxysteroid dehydrogenase type 1 mRNA in mouse tissues.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2) 

Pathways from PubChem

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General gene information

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Markers

Homology

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 ISO
Inferred from Sequence Orthology
more info
  
enables dihydrotestosterone 17-beta-dehydrogenase activity IEA
Inferred from Electronic Annotation
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 ISO
Inferred from Sequence Orthology
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
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 dehydrogenase (NAD+) activity ISO
Inferred from Sequence Orthology
more info
  
enables testosterone dehydrogenase [NAD(P)] activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within adipose tissue development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 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 
acts_upstream_of_or_within steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
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
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
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
XP_006532360.1

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_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

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    100968792..100972014
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51656.1 GenPept UniProtKB/Swiss-Prot:P51656

Gene LinkOut

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