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

Gene ID: 3292, updated on 5-Sep-2021

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
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Genomic context

See HSD17B1 in Genome Data Viewer
Location:
17q21.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42552923..42555214)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40704941..40707232)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1 Neighboring gene HSD17B1 promoter Neighboring gene HSD17B1 antisense RNA 1 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 Functions

What'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 PubChem

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
enables 17-beta-hydroxysteroid dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
 
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 dihydrotestosterone 17-beta-dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables estradiol 17-beta-dehydrogenase 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 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 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 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 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 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

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
NP_001317148.1

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_000413.4NP_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
    P14061
    Related
    ENSP00000466799.1, ENST00000585807.6
    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_001330219.3NP_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
    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_144397.2 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    42552923..42555214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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