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

Gene ID: 51478, updated on 5-Mar-2024

Summary

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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
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Genomic context

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See HSD17B7 in Genome Data Viewer
Location:
1q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162790702..162812823)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (162134938..162157387)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162760492..162782613)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1494 Neighboring gene UDP-N-acetylglucosamine pyrophosphorylase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2011 Neighboring gene discoidin domain receptor tyrosine kinase 2 Neighboring gene Sharpr-MPRA regulatory region 4859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1495 Neighboring gene MPRA-validated peak435 silencer Neighboring gene RNA, 7SL, cytoplasmic 861, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162792375-162792980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2012 Neighboring gene Sharpr-MPRA regulatory region 14373 Neighboring gene coiled-coil domain containing 190 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:162947871-162948547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162948548-162949223 Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. HSD17B7 gene in self-renewal and oncogenicity of keratinocytes from Black versus White populations. Xu X, et al. EMBO Mol Med, 2021 Jul 7. PMID 34185380, Free PMC Article
  2. Mutual regulations and breast cancer cell control by steroidogenic enzymes: Dual sex-hormone receptor modulation upon 17β-HSD7 inhibition. Sang X, et al. J Steroid Biochem Mol Biol, 2019 Oct. PMID 31207361
  3. The dual sex hormone specificity for human reductive 17β-hydroxysteroid dehydrogenase type 7: Synergistic function in estrogen and androgen control. Thériault JF, et al. J Steroid Biochem Mol Biol, 2019 Feb. PMID 30227243
  4. Synergistic control of sex hormones by 17β-HSD type 7: a novel target for estrogen-dependent breast cancer. Wang X, et al. J Mol Cell Biol, 2015 Dec. PMID 25966904, Free PMC Article
  5. The stimulation of HSD17B7 expression by estradiol provides a powerful feed-forward mechanism for estradiol biosynthesis in breast cancer cells. Shehu A, et al. Mol Endocrinol, 2011 May. PMID 21372145, Free PMC Article

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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?
  9. 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.
  10. 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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC12523, MGC75018

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
  

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
NP_001291442.1
NP_057455.1

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_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

  2. 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

  3. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    162790702..162812823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_007060779.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    162134938..162157387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008486066.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56937.1 GenPept UniProtKB/Swiss-Prot:P56937

Gene LinkOut

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