HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSD17B1provided by HGNC
Official Full Name: hydroxysteroid 17-beta dehydrogenase 1provided by HGNC
Primary source: HGNC:HGNC:5210
See related: Ensembl:ENSG00000108786 MIM:109684; AllianceGenome:HGNC:5210
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: E2DH; HSD17; EDHB17; EDH17B2; SDR28C1; 17-beta-HSD; 20-alpha-HSD
Summary: This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression: Biased expression in placenta (RPKM 41.1), fat (RPKM 4.7) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42552923..42555214)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43410112..43412403)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40704941..40707232)

Chromosome 17 - NC_000017.11 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?

Serum hydroxysteroid (17beta) dehydrogenase 1 concentration in pregnant women correlates with pregnancy-associated plasma protein A but does not serve as an independent marker for preeclampsiadagger.
Title: Serum hydroxysteroid (17beta) dehydrogenase 1 concentration in pregnant women correlates with pregnancy-associated plasma protein A but does not serve as an independent marker for preeclampsia†.
New insights into the substrate inhibition of human 17beta-hydroxysteroid dehydrogenase type 1.
Title: New insights into the substrate inhibition of human 17β-hydroxysteroid dehydrogenase type 1.
Overexpression of Human Estrogen Biosynthetic Enzyme Hydroxysteroid (17beta) Dehydrogenase Type 1 Induces Adenomyosis-like Phenotype in Transgenic Mice.
Title: Overexpression of Human Estrogen Biosynthetic Enzyme Hydroxysteroid (17beta) Dehydrogenase Type 1 Induces Adenomyosis-like Phenotype in Transgenic Mice.
Steroid Metabolism in Children and Adolescents With Obesity and Insulin Resistance: Altered SRD5A and 20alpha/20betaHSD Activity.
Title: Steroid Metabolism in Children and Adolescents With Obesity and Insulin Resistance: Altered SRD5A and 20α/20βHSD Activity.
Hydroxysteroid 17-beta dehydrogenase 13 variant increases phospholipids and protects against fibrosis in nonalcoholic fatty liver disease.
Title: Hydroxysteroid 17-β dehydrogenase 13 variant increases phospholipids and protects against fibrosis in nonalcoholic fatty liver disease.
G protein coupled oestrogen receptor 1, aromatase, 17beta-HSD and cAMP level in mutational falsetto.
Title: G protein coupled oestrogen receptor 1, aromatase, 17β-HSD and cAMP level in mutational falsetto.
Altered expression of 17betahydroxysteroid dehydrogenase type 2 and its prognostic significance in nonsmall cell lung cancer.
Title: Altered expression of 17‑β‑hydroxysteroid dehydrogenase type 2 and its prognostic significance in non‑small cell lung cancer.
a new inhibitor is proposed that may inhibit 17b-HSD1 through the formation of a dead-end complex. This finding indicates a simple mechanism of enzyme regulation in the physiological background and introduces a pioneer inhibitor of 17b-HSD1 based on the dead-end inhibition model for efficiently targeting estrogen-dependent diseases
Title: Crystal structures of human 17β-hydroxysteroid dehydrogenase type 1 complexed with estrone and NADP(+) reveal the mechanism of substrate inhibition.
Aberrant ERRgamma expression may contribute to the pathogenesis of FGR by regulating the transcriptional activity of HSD17B1.
Title: Estrogen-related receptor γ regulates expression of 17β-hydroxysteroid dehydrogenase type 1 in fetal growth restriction.
Our genetic study demonstrated HSD17B1 937 G variant as a risk factor for infertility in women with stage I and II endometriosis in Polish Caucasian patients.
Title: Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis.

Submit: New GeneRIF Correction See all GeneRIFs (82)

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of hydroxysteroid (17-beta) dehydrogenase 1 (HSD17B1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

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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

NoName (e-PCR)
- UniSTS:483585

WI-14373 (e-PCR)
- UniSTS:15111

GDB:180973 (e-PCR)
- UniSTS:155150

D8S2279 (e-PCR)
- UniSTS:473907

SGC34304 (e-PCR)
- UniSTS:68678

GDB:198064 (e-PCR)
- UniSTS:156013

GDB:198065 (e-PCR)
- UniSTS:156014

GDB:198066 (e-PCR)
- UniSTS:156015

GDB:198067 (e-PCR)
- UniSTS:156016

GDB:198068 (e-PCR)
- UniSTS:156017

STS-AA037233 (e-PCR)
- UniSTS:54140

RH69134 (e-PCR)
- UniSTS:32383

GDB:196131 (e-PCR)
- UniSTS:155814

GDB:631802 (e-PCR)
- UniSTS:158429

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 17-beta-hydroxysteroid dehydrogenase (NADP+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables NADP binding	IDA Inferred from Direct Assay more info	PubMed
enables NADP+ binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables catalytic activity	TAS Traceable Author Statement 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
enables estradiol binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables small molecule binding	EXP Inferred from Experiment more info	PubMed
enables steroid binding	IDA Inferred from Direct Assay more info	PubMed
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(P)+] activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in adipose tissue development	IEA Inferred from Electronic Annotation more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in estrogen metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in lysosome organization	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in steroid biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in testosterone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 17-beta-hydroxysteroid dehydrogenase type 1

Names: 17-beta-HSD 1; 20 alpha-hydroxysteroid dehydrogenase; estradiol 17-beta-dehydrogenase 1; placental 17-beta-hydroxysteroid dehydrogenase; short chain dehydrogenase/reductase family 28C member 1; short chain dehydrogenase/reductase family 28CE, member 1

NP_000404.2

EC 1.1.1.51

EC 1.1.1.62

NP_001317148.1

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_000413.4 → NP_000404.2 17-beta-hydroxysteroid dehydrogenase type 1 isoform 1

See identical proteins and their annotated locations for NP_000404.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 3' coding region, compared to variant 2. It encodes isoform 1, which is shorter than isoform 2.

Source sequence(s)

AC067852, CF529535, X13440

Consensus CDS

CCDS11428.1

UniProtKB/Swiss-Prot

B3KXS1, P14061, Q2M2L8

UniProtKB/TrEMBL

B3RFR9

Related

ENSP00000466799.1, ENST00000585807.6

Conserved Domains (1) summary

cd09806
Location:4 → 261

type1_17beta-HSD-like_SDR_c; human estrogenic 17beta-hydroxysteroid dehydrogenase type 1 (type 1 17beta-HSD)-like, classical (c) SDRs
NM_001330219.3 → NP_001317148.1 17-beta-hydroxysteroid dehydrogenase type 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (2).

Source sequence(s)

AC067852, AL542322, AL553301, CF529535

Consensus CDS

CCDS82126.1

UniProtKB/TrEMBL

A0A0A0MQS7, B3RFR9

Related

ENSP00000225929.5, ENST00000225929.5

Conserved Domains (2) summary

pfam00106
Location:5 → 198

adh_short; short chain dehydrogenase

cl21454
Location:4 → 262

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

RNA

NR_144397.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC067852, AK300452, CF529535

Related

ENST00000590299.5