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

Gene ID: 3292, updated on 8-Dec-2018

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
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

Genomic context

See HSD17B1 in Genome Data Viewer
Location:
17q21.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (42552558..42555214)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40703984..40707232)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene N-acetyl-alpha-glucosaminidase Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1 Neighboring gene HSD17B1 promoter Neighboring gene uncharacterized LOC108783654 Neighboring gene Coenzyme A synthase Neighboring gene MAX dimerization protein MLX Neighboring gene PSMC3 interacting protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Estrogen biosynthesis, organism-specific biosystem (from REACTOME)
    Estrogen biosynthesis, organism-specific biosystemIn female vertebrates, estrogens control reproductive system development and reproductive functions (Payne AH and Hales DB, 2004).
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of steroid hormones, organism-specific biosystem (from REACTOME)
    Metabolism of steroid hormones, organism-specific biosystemSteroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual devel...
  • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
    Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Ovarian steroidogenesis, conserved biosystem (from KEGG)
    Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Steroid Biosynthesis, organism-specific biosystem (from WikiPathways)
    Steroid Biosynthesis, organism-specific biosystem
    Steroid Biosynthesis
  • Steroid hormone biosynthesis, organism-specific biosystem (from KEGG)
    Steroid hormone biosynthesis, organism-specific biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
  • Steroid hormone biosynthesis, conserved biosystem (from KEGG)
    Steroid hormone biosynthesis, conserved biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
  • The canonical retinoid cycle in rods (twilight vision), organism-specific biosystem (from REACTOME)
    The canonical retinoid cycle in rods (twilight vision), organism-specific biosystemThe retinoid cycle (also referred to as the visual cycle) is the process by which the visual chromophore 11-cis-retinal (11cRAL) is released from light-activated opsins in the form all-trans-retinal ...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • estradiol biosynthesis I, organism-specific biosystem (from BIOCYC)
    estradiol biosynthesis I, organism-specific biosystemEstrogens are estrone and estradiol, steroid hormones synthesized in the ovaries, breasts, adipose and other tissues that are critical for sexual development and function. They can also act as induce...
  • superpathway of steroid hormone biosynthesis, organism-specific biosystem (from BIOCYC)
    superpathway of steroid hormone biosynthesis, organism-specific biosystemAs their name implies, : Steroid-Hormones "steroid hormones" are steroids that act as hormones. Steroid hormones are divided into five groups based on the receptors to which they bind: : Glucocortico...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138140

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADP+ binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
estradiol 17-beta-dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
estradiol 17-beta-dehydrogenase activity TAS
Traceable Author Statement
more info
 
estradiol binding IDA
Inferred from Direct Assay
more info
PubMed 
steroid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
estrogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
estrogen biosynthetic process TAS
Traceable Author Statement
more info
 
estrogen metabolic process TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
steroid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
estradiol 17-beta-dehydrogenase 1
Names
17-beta-HSD 1
17-beta-hydroxysteroid dehydrogenase type 1
20 alpha-hydroxysteroid dehydrogenase
placental 17-beta-hydroxysteroid dehydrogenase
short chain dehydrogenase/reductase family 28C member 1
short chain dehydrogenase/reductase family 28CE, member 1
NP_000404.2
NP_001317148.1

NCBI Reference Sequences (RefSeq)

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_000413.3NP_000404.2  estradiol 17-beta-dehydrogenase 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
    P14061
    Related
    ENSP00000466799.1, ENST00000585807.5
    Conserved Domains (1) summary
    cd09806
    Location:4261
    type1_17beta-HSD-like_SDR_c; human estrogenic 17beta-hydroxysteroid dehydrogenase type 1 (type 1 17beta-HSD)-like, classical (c) SDRs
  2. NM_001330219.2NP_001317148.1  estradiol 17-beta-dehydrogenase 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
    Related
    ENSP00000225929.5, ENST00000225929.5
    Conserved Domains (2) summary
    pfam00106
    Location:5198
    adh_short; short chain dehydrogenase
    cl21454
    Location:4262
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RNA

  1. NR_144397.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    42552558..42555214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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