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

    Gene ID: 3292, updated on 8-Nov-2017
    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; Vega:OTTHUMG00000180243
    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]
    Orthologs
    Location:
    17q21.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (42551966..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 Coenzyme A synthase Neighboring gene MLX, MAX dimerization protein Neighboring gene PSMC3 interacting protein

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    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
    XP_005257349.1
    XP_006721920.1
    XP_006721921.1
    XP_006721922.1
    XP_011523031.1
    XP_011523032.1
    XP_011523033.1
    XP_011523034.1

    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, OTTHUMP00000263731, ENST00000585807.5, OTTHUMT00000450392
      Conserved Domains (2) 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
      pfam00106
      Location:5197
      adh_short; short chain dehydrogenase
    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
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      42551966..42555214
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721857.3XP_006721920.1  estradiol 17-beta-dehydrogenase 1 isoform X1

      Conserved Domains (2) summary
      pfam00106
      Location:5229
      adh_short; short chain dehydrogenase
      cl21454
      Location:4272
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. XM_006721859.3XP_006721922.1  estradiol 17-beta-dehydrogenase 1 isoform X5

      Conserved Domains (2) summary
      pfam00106
      Location:5229
      adh_short; short chain dehydrogenase
      cl21454
      Location:4293
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. XM_006721858.3XP_006721921.1  estradiol 17-beta-dehydrogenase 1 isoform X2

      Conserved Domains (2) summary
      pfam00106
      Location:5228
      adh_short; short chain dehydrogenase
      cl21454
      Location:4271
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    4. XM_005257292.3XP_005257349.1  estradiol 17-beta-dehydrogenase 1 isoform X6

      Conserved Domains (2) summary
      pfam00106
      Location:5228
      adh_short; short chain dehydrogenase
      cl21454
      Location:4292
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    5. XM_011524732.2XP_011523034.1  estradiol 17-beta-dehydrogenase 1 isoform X8

      Related
      ENSP00000465128.1, OTTHUMP00000263732, ENST00000590299.5, OTTHUMT00000450395
      Conserved Domains (1) summary
      cl21454
      Location:4179
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    6. XM_011524729.1XP_011523031.1  estradiol 17-beta-dehydrogenase 1 isoform X3

      Conserved Domains (2) summary
      pfam00106
      Location:5198
      adh_short; short chain dehydrogenase
      cl21454
      Location:4241
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    7. XM_011524731.1XP_011523033.1  estradiol 17-beta-dehydrogenase 1 isoform X7

      Related
      ENSP00000225929.5, OTTHUMP00000263733, ENST00000225929.5, OTTHUMT00000450397
      Conserved Domains (2) summary
      pfam00106
      Location:5198
      adh_short; short chain dehydrogenase
      cl21454
      Location:4262
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    8. XM_011524730.1XP_011523032.1  estradiol 17-beta-dehydrogenase 1 isoform X4

      Conserved Domains (2) summary
      pfam00106
      Location:5197
      adh_short; short chain dehydrogenase
      cl21454
      Location:4240
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RNA

    1. XR_934451.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      40939828..40943076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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