HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSD17B7provided by HGNC
Official Full Name: hydroxysteroid 17-beta dehydrogenase 7provided by HGNC
Primary source: HGNC:HGNC:5215
See related: Ensembl:ENSG00000132196 MIM:606756; AllianceGenome:HGNC:5215
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PRAP; SDR37C1
Summary: HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
Expression: Ubiquitous expression in adrenal (RPKM 6.0), lymph node (RPKM 4.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (162790702..162812823)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (162134938..162157387)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (162760492..162782613)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HSD17B7 gene in self-renewal and oncogenicity of keratinocytes from Black versus White populations.
Title: HSD17B7 gene in self-renewal and oncogenicity of keratinocytes from Black versus White populations.
Inhibition of 17beta-HSD7can provide a new basis for the design of combined endocrine therapy for breast cancer by controlling E2 and DHT, while up-regulating AR expression and stably controlling expression of ERalpha.
Title: Mutual regulations and breast cancer cell control by steroidogenic enzymes: Dual sex-hormone receptor modulation upon 17β-HSD7 inhibition.
Substrate affinity of 17beta-hydroxysteroid dehydrogenase type 7 toward estrone and 5alpha-dihydrotestosterone are similar.
Title: The dual sex hormone specificity for human reductive 17β-hydroxysteroid dehydrogenase type 7: Synergistic function in estrogen and androgen control.
Inhibition of 17beta-HSD 7 modulates breast cancer protein profile and enhances apoptosis by down-regulating GRP78.
Title: Inhibition of 17beta-hydroxysteroid dehydrogenase type 7 modulates breast cancer protein profile and enhances apoptosis by down-regulating GRP78.
Substrate inhibition of 17beta-HSD1 in tumor epithelial cells and regulation of 17beta-HSD7 by 17beta-HSD1 knockdown has been demonstrated.
Title: Substrate inhibition of 17β-HSD1 in living cells and regulation of 17β-HSD7 by 17β-HSD1 knockdown.
the dual functional 17beta-HSD7 is proposed as a novel target for estrogen-dependent breast cancer by regulating the balance of estradiol and dihydrotestosterone.
Title: Synergistic control of sex hormones by 17β-HSD type 7: a novel target for estrogen-dependent breast cancer.
17beta-HSD1 and 17beta-HSD7 are principal reductive 17beta-hydroxysteroid dehydrogenases and major players in the viability of estrogen-dependent breast cancer cells.
Title: Reductive 17beta-hydroxysteroid dehydrogenases which synthesize estradiol and inactivate dihydrotestosterone constitute major and concerted players in ER+ breast cancer cells.
The transcriptional activity of the HSD17B7 gene containing the G allele is higher than that of the C allele. This difference in HSD17B7 expression may regulate the risk of peripheral edema as an adverse reaction induced by estramustine phosphate sodium
Title: Single nucleotide polymorphisms of 17beta-hydroxysteroid dehydrogenase type 7 gene: mechanism of estramustine-related adverse reactions?
17betaHSD7 is not the key enzyme responsible for androstenone and testosterone metabolism in porcine liver cells
Title: Investigation of testosterone, androstenone, and estradiol metabolism in HepG2 cells and primary culture pig hepatocytes and their effects on 17βHSD7 gene expression.
Data show that apicidin significantly lowers HSD17B1 transcript and protein levels in endometrial adenocarcinoma cells, with no significant effect on HSD17B1 transcript stability.
Title: Apicidin suppresses transcription of 17β-hydroxysteroid dehydrogenase type 1 in endometrial adenocarcinoma cells.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

RH115827 (e-PCR)
- UniSTS:209625

Gene Ontology Provided by GOA

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	TAS Traceable Author Statement 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 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

Process	Evidence Code	Pubs
involved_in androgen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol biosynthetic process	TAS Traceable Author Statement 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

Component	Evidence Code	Pubs
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	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed

General protein information

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

Names: 17 beta-hydroxysteroid dehydrogenase type VII; 17-beta-HSD 7; 17-beta-hydroxysteroid dehydrogenase 7; 17beta hydroxysteroid dehydrogenase; 3-keto-steroid reductase; dihydrotestosterone oxidoreductase; estradiol 17-beta-dehydrogenase 7; short chain dehydrogenase/reductase family 37C member 1

NP_001291441.1

EC 1.1.1.210

EC 1.1.1.270

EC 1.1.1.62

NP_001291442.1

EC 1.1.1.210

EC 1.1.1.270

EC 1.1.1.62

NP_057455.1

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_001304512.2 → NP_001291441.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 2

See identical proteins and their annotated locations for NP_001291441.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL445197

UniProtKB/TrEMBL

Q9H9C0

Conserved Domains (1) summary

cl21454
Location:2 → 153

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001304513.2 → NP_001291442.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 3

See identical proteins and their annotated locations for NP_001291442.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL445197

UniProtKB/Swiss-Prot

P56937

UniProtKB/TrEMBL

Q5T248

Conserved Domains (1) summary

cl21454
Location:2 → 110

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_016371.4 → NP_057455.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 1

See identical proteins and their annotated locations for NP_057455.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL392003, AL445197

Consensus CDS

CCDS1242.1

UniProtKB/Swiss-Prot

P56937, Q5T246, Q7Z4V9, Q8WWS2, Q9UF00

Related

ENSP00000254521.3, ENST00000254521.8

Conserved Domains (1) summary

cd08941
Location:2 → 280

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