U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 3292, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HSD17B1 in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40688565-40689302 Neighboring gene N-acetyl-alpha-glucosaminidase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8535 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12205 Neighboring gene HSD17B1 promoter Neighboring gene HSD17B1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40706585-40707152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40707968-40708515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40717370-40717876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40717877-40718383 Neighboring gene Coenzyme A synthase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40719397-40719904 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

    Clone Names

    • MGC138140

    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

    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)

    NEW Try the new Transcript table

    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
      B3KXS1, P14061, Q2M2L8
      UniProtKB/TrEMBL
      B3RFR9
      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, B3RFR9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      43410112..43412403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)