Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hsd17b7provided by MGI
Official Full Name: hydroxysteroid (17-beta) dehydrogenase 7provided by MGI
Primary source: MGI:MGI:1330808
See related: Ensembl:ENSMUSG00000026675 AllianceGenome:MGI:1330808
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: ERG27
Summary: Enables 3-keto sterol reductase activity; 5alpha-androstane-3beta,17beta-diol dehydrogenase activity; and estradiol 17-beta-dehydrogenase activity. Involved in animal organ development and cellular hormone metabolic process. Acts upstream of or within several processes, including cholesterol biosynthetic process; embryonic skeletal system development; and nervous system development. Located in endoplasmic reticulum membrane. Is expressed in several structures, including autopod; branchial arch; eye; nervous system; and spleen primordium. Orthologous to human HSD17B7 (hydroxysteroid 17-beta dehydrogenase 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 11.9), ovary adult (RPKM 10.5) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H3; 1 76.84 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (169777109..169796757, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (169949535..169969242, complement)

Chromosome 1 - NC_000067.7 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?

The ENU-induced rudolph mouse mutant has defects in both central nervous system and skeletal development, and carries a mutation of Hsd17b7. These developmental defects appear to be a consequence of abnormalities in Hedgehog signaling.
Title: Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.
a recessive mutation, rudolph, that causes abnormal forebrain development was identified in hydroxysteroid (17-beta) dehydrogenase 7 gene, an enzyme necessary for cholesterol biosynthesis.
Title: Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.
Hsd17b7 activity is essential for fetal de novo cholesterol synthesis and for neuroectodermal survival and cardiovascular differentiation in early mouse embryos
Title: Hydroxysteroid (17beta) dehydrogenase 7 activity is essential for fetal de novo cholesterol synthesis and for neuroectodermal survival and cardiovascular differentiation in early mouse embryos.
Data show that prolactin receptor-associated protein/17beta-hydroxysteroid dehydrogenase type 7 plays an important role in fetal survival and embryonic development in mice.
Title: Prolactin receptor-associated protein/17beta-hydroxysteroid dehydrogenase type 7 gene (Hsd17b7) plays a crucial role in embryonic development and fetal survival.
The identified proximal promoter regions of both human and murine HSD17B7 genes contain multiple transcription factor binding sites and show strong similarity to cholesterogenic genes.
Title: Analysis of the 5' flanking regions of human and murine HSD17B7: identification of a cholesterol dependent enhancer region.
Results provide unequivocal evidence for a role of 17beta-hydroxysteroid dehydrogenase type-7 in cholesterol biosynthesis.
Title: Transcriptional regulation of human and murine 17beta-hydroxysteroid dehydrogenase type-7 confers its participation in cholesterol biosynthesis.
Comparison of the promoter region of the human and murine gene.
Title: Promoter analyses of human and mouse 17beta-hydroxysteroid dehydrogenase type 7.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
Gene trapped (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hsd17b7 (e-PCR), detects polymorphism
- UniSTS:546824

Hsd17b7 (e-PCR), detects polymorphism
- UniSTS:526741

AI266814 (e-PCR)
- UniSTS:158886

Y15733 (e-PCR)
- UniSTS:163271

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-keto sterol reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-keto sterol reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3-keto sterol reductase activity	ISO Inferred from Sequence Orthology more info
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity	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 oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables prolactin receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in androgen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in androgen metabolic process	ISO Inferred from Sequence Orthology more info
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in embryonic organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
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 lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within nervous system 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 steroid biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7

Names: 17-beta-HSD 7; 17-beta-hydroxysteroid dehydrogenase 7; 3-keto-steroid reductase; dihydrotestosterone oxidoreductase; estradiol 17-beta-dehydrogenase 7

NP_001407165.1

EC 1.1.1.210

EC 1.1.1.270

EC 1.1.1.62

NP_001407166.1

EC 1.1.1.210

EC 1.1.1.270

EC 1.1.1.62

NP_001407167.1

EC 1.1.1.210

EC 1.1.1.270

EC 1.1.1.62

NP_034606.3

EC 1.1.1.210

EC 1.1.1.270

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_001420236.1 → NP_001407165.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 1

Status: VALIDATED

Source sequence(s)

AC139673

UniProtKB/TrEMBL

Q8C5N9

Related

ENSMUSP00000106985.4, ENSMUST00000111353.4
NM_001420237.1 → NP_001407166.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 3

Status: VALIDATED

Source sequence(s)

AC139673
NM_001420238.1 → NP_001407167.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 4

Status: VALIDATED

Source sequence(s)

AC139673
NM_010476.4 → NP_034606.3 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 2

See identical proteins and their annotated locations for NP_034606.3

Status: VALIDATED

Source sequence(s)

AC139673

Consensus CDS

CCDS35766.1

UniProtKB/Swiss-Prot

O88736, Q8K5C9, Q921L1

Related

ENSMUSP00000027989.7, ENSMUST00000027989.13

Conserved Domains (2) summary

cd08941
Location:2 → 280

3KS_SDR_c; 3-keto steroid reductase, classical (c) SDRs

COG1028
Location:1 → 305

FabG; NAD(P)-dependent dehydrogenase, short-chain alcohol dehydrogenase family [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]