Format

Send to:

Choose Destination
    • Showing Current items.

    HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 [ Homo sapiens (human) ]

    Gene ID: 3293, updated on 19-Oct-2018

    Summary

    Official Symbol
    HSD17B3provided by HGNC
    Official Full Name
    hydroxysteroid 17-beta dehydrogenase 3provided by HGNC
    Primary source
    HGNC:HGNC:5212
    See related
    Ensembl:ENSG00000130948 MIM:605573; Vega:OTTHUMG00000020292
    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
    EDH17B3; SDR12C2
    Summary
    This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 7.7), small intestine (RPKM 0.7) and 4 other tissues See more
    Orthologs

    Genomic context

    See HSD17B3 in Genome Data Viewer
    Location:
    9q22.32
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (96235306..96313987, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (98997588..99064662, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4B pseudogene 3 Neighboring gene uncharacterized LOC107987033 Neighboring gene HSD17B3 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1160, pseudogene Neighboring gene solute carrier family 35 member D2 Neighboring gene NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene Neighboring gene zinc finger protein 367 Neighboring gene hyaluronan binding protein 4

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Testosterone 17-beta-dehydrogenase deficiency
    MedGen: C0268296 OMIM: 264300 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours among Bangladeshi adults.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Androgen biosynthesis, organism-specific biosystem (from REACTOME)
      Androgen biosynthesis, organism-specific biosystemAndrogens are the determining factors for male development and behaviour in vertebrates (Miller 2002).
    • Fatty Acyl-CoA Biosynthesis, organism-specific biosystem (from REACTOME)
      Fatty Acyl-CoA Biosynthesis, organism-specific biosystemFatty acyl-CoA biosynthesis involves following steps: -Palmitate synthesis catalyzed by Acetyl-CoA carboxylase and Fatty acid synthase-Conversion of palmitic acid to long chain fatty acids and-Conver...
    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
      Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
    • 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...
    • 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...
    • Synthesis of very long-chain fatty acyl-CoAs, organism-specific biosystem (from REACTOME)
      Synthesis of very long-chain fatty acyl-CoAs, organism-specific biosystemVery long-chain fatty acids (VLCFA), ones with more than 20 carbon atoms, have diverse physiological roles, notably as components of ceramides in membrane lipids and as precursors of the eicosanoid h...
    • Triglyceride Biosynthesis, organism-specific biosystem (from REACTOME)
      Triglyceride Biosynthesis, organism-specific biosystemThe overall process of triglyceride (triacylglycerol) biosynthesis consists of four biochemical pathways: fatty acyl-CoA biosynthesis, conversion of fatty acyl-CoA to phosphatidic acid, conversion of...
    • androgen biosynthesis, organism-specific biosystem (from BIOCYC)
      androgen biosynthesis, organism-specific biosystemThis pathway describes the conversion of the inactive C21 steroid hormone precursor pregnenolone to the androgens: androstenedione, testosterone and 17beta-hydroxy-5alpha-androstan-3-one. Androstened...
    • androgen biosynthesis, conserved biosystem (from BIOCYC)
      androgen biosynthesis, conserved biosystemThis pathway describes the conversion of the inactive C21 steroid hormone precursor |FRAME: PREGNENOLONE| to the androgens: |FRAME: ANDROST4ENE androstenedione|, |FRAME: TESTOSTERONE| and |FRAME: 17-...
    • 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...
    • superpathway of steroid hormone biosynthesis, conserved biosystem (from BIOCYC)
      superpathway of steroid hormone biosynthesis, conserved biosystemAs their name implies, |FRAME: 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: |FRAME:...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    testosterone 17-beta-dehydrogenase (NADP+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    testosterone 17-beta-dehydrogenase (NADP+) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    testosterone dehydrogenase (NAD+) activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    androgen biosynthetic process TAS
    Traceable Author Statement
    more info
     
    male genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    steroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    testosterone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    testosterone 17-beta-dehydrogenase 3
    Names
    17-beta-HSD 3
    17-beta-HSD3
    17-beta-hydroxysteroid dehydrogenase type 3
    hydroxysteroid dehydrogenase 3
    short chain dehydrogenase/reductase family 12C member 2
    testicular 17-beta-hydroxysteroid dehydrogenase
    NP_000188.1
    XP_011516920.1
    XP_011516921.1
    XP_016870160.1
    XP_016870161.1
    XP_016870162.1
    XP_016870163.1
    XP_016870164.1
    XP_016870166.1
    XP_024303297.1

    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.

    Genomic

    1. NG_008157.1 RefSeqGene

      Range
      4977..71847
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000197.2NP_000188.1  testosterone 17-beta-dehydrogenase 3

      See identical proteins and their annotated locations for NP_000188.1

      Status: REVIEWED

      Source sequence(s)
      BC034281, HY027495
      Consensus CDS
      CCDS6716.1
      UniProtKB/Swiss-Prot
      P37058
      UniProtKB/TrEMBL
      Q6FH62
      Related
      ENSP00000364412.3, OTTHUMP00000021718, ENST00000375263.8
      Conserved Domains (1) summary
      cd05356
      Location:48284
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      96235306..96313987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518618.2XP_011516920.1  testosterone 17-beta-dehydrogenase 3 isoform X1

      See identical proteins and their annotated locations for XP_011516920.1

      UniProtKB/Swiss-Prot
      P37058
      UniProtKB/TrEMBL
      Q6FH62
      Conserved Domains (1) summary
      cd05356
      Location:48284
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    2. XM_017014677.1XP_016870166.1  testosterone 17-beta-dehydrogenase 3 isoform X5

      Conserved Domains (1) summary
      cl21454
      Location:31164
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. XM_017014674.1XP_016870163.1  testosterone 17-beta-dehydrogenase 3 isoform X3

      Related
      ENSP00000498039.1, ENST00000648799.1
      Conserved Domains (2) summary
      cd05356
      Location:48248
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
      pfam00106
      Location:49207
      adh_short; short chain dehydrogenase
    4. XM_017014673.2XP_016870162.1  testosterone 17-beta-dehydrogenase 3 isoform X2

    5. XM_017014675.1XP_016870164.1  testosterone 17-beta-dehydrogenase 3 isoform X4

      Conserved Domains (1) summary
      cd05356
      Location:39230
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    6. XM_024447529.1XP_024303297.1  testosterone 17-beta-dehydrogenase 3 isoform X4

      Conserved Domains (1) summary
      cd05356
      Location:39230
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    7. XM_017014672.1XP_016870161.1  testosterone 17-beta-dehydrogenase 3 isoform X1

      UniProtKB/Swiss-Prot
      P37058
      UniProtKB/TrEMBL
      Q6FH62
      Conserved Domains (1) summary
      cd05356
      Location:48284
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    8. XM_017014671.1XP_016870160.1  testosterone 17-beta-dehydrogenase 3 isoform X1

      UniProtKB/Swiss-Prot
      P37058
      UniProtKB/TrEMBL
      Q6FH62
      Conserved Domains (1) summary
      cd05356
      Location:48284
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    9. XM_011518619.2XP_011516921.1  testosterone 17-beta-dehydrogenase 3 isoform X1

      See identical proteins and their annotated locations for XP_011516921.1

      UniProtKB/Swiss-Prot
      P37058
      UniProtKB/TrEMBL
      Q6FH62
      Conserved Domains (1) summary
      cd05356
      Location:48284
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

    RNA

    1. XR_002956778.1 RNA Sequence

    Support Center