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    HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 [ Homo sapiens (human) ]

    Gene ID: 8630, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HSD17B6provided by HGNC
    Official Full Name
    hydroxysteroid 17-beta dehydrogenase 6provided by HGNC
    Primary source
    HGNC:HGNC:23316
    See related
    Ensembl:ENSG00000025423 MIM:606623; AllianceGenome:HGNC:23316
    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
    HSE; RODH; SDR9C6
    Summary
    The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]
    Expression
    Biased expression in liver (RPKM 415.0), lung (RPKM 33.0) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HSD17B6 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56763324..56787790)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56720359..56755674)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57157108..57181574)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6519 Neighboring gene nascent polypeptide associated complex subunit alpha Neighboring gene DNA primase subunit 1 Neighboring gene Sharpr-MPRA regulatory region 96 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57198454-57199103 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene YWHAQ pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias. Mares L, et al. J Pediatr Urol, 2020 Oct. PMID 32732174
    2. Molecular characterization of a first human 3(alpha-->beta)-hydroxysteroid epimerase. Huang XF, et al. J Biol Chem, 2000 Sep 22. PMID 10896656
    3. Evolution of 17beta-hydroxysteroid dehydrogenases and their role in androgen, estrogen and retinoid action. Baker ME. Mol Cell Endocrinol, 2001 Jan 22. PMID 11165032
    4. Cloning of the human RoDH-related short chain dehydrogenase gene and analysis of its structure. Kedishvili NY, et al. Chem Biol Interact, 2001 Jan 30. PMID 11306067
    5. Association analysis between the polymorphisms of HSD17B5 and HSD17B6 and risk of polycystic ovary syndrome in Chinese population. Ju R, et al. Eur J Endocrinol, 2015 Mar. PMID 25422294

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HSD17B6 delays type 2 diabetes development via inhibiting SREBP activation.
      Title: HSD17B6 delays type 2 diabetes development via inhibiting SREBP activation.
    2. Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias.
      Title: Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias.
    3. No significant difference was found in genotype or allele distributions of the polymorphisms rs12529 of HSD17B5 and rs898611 of HSD17B6 between patients with PCOS and controls.
      Title: Association analysis between the polymorphisms of HSD17B5 and HSD17B6 and risk of polycystic ovary syndrome in Chinese population.
    4. the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower.
      Title: Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.
    5. data suggest that there is no association of HSD17B6 and HSD17B5 variants with the occurrence of polycystic ovary syndrome in the Chinese population
      Title: Polymorphisms of the HSD17B6 and HSD17B5 genes in Chinese women with polycystic ovary syndrome.
    6. 17beta-hydroxysteroid dehydrogenase type 6 (17betaHSD6) converts the androgen DHT to the estrogen 3beta-Adiol, and this leads to activation of the ERbeta reporter.
      Title: Estrogen receptor β and 17β-hydroxysteroid dehydrogenase type 6, a growth regulatory pathway that is lost in prostate cancer.
    7. These replication data suggest a role for HSD17B6 in polycystic ovary syndrome
      Title: Independent confirmation of association between metabolic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta-hydroxysteroid dehydrogenase gene.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Polymorphisms of the HSD17B6 and HSD17B5 genes in Chinese women with polycystic ovary syndrome.
    9. RoDH enzymes are expressed in tissues that have microsomal 3alpha-hydroxysteroid dehydrogenase/epimerase activities
      Title: Role of microsomal retinol/sterol dehydrogenase-like short-chain dehydrogenases/reductases in the oxidation and epimerization of 3alpha-hydroxysteroids in human tissues.
    10. These data suggest that polymorphisms in the HSD17B6 gene are associated with PCOS and key clinical phenotypes of the disorder.
      Title: Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
    EBI GWAS Catalog
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables all-trans-retinol dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables all-trans-retinol dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables androstan-3-alpha,17-beta-diol dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables androsterone dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables catalytic activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity NAS
    Non-traceable Author Statement
    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
    		  
    Process Evidence Code Pubs
    involved_in androgen biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in androgen catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in brexanolone catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retinol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in steroid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    17-beta-hydroxysteroid dehydrogenase type 6
    Names
    17-beta-HSD 6
    3(alpha->beta)-hydroxysteroid epimerase
    3(alpha->beta)-hydroxysteroid epimerasel
    3-alpha->beta-HSE
    3-hydroxysteroid epimerase
    NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid epimerase
    hydroxysteroid (17-beta) dehydrogenase 6 homolog
    oxidative 3-alpha-hydroxysteroid-dehydrogenase
    oxidoreductase
    retinol dehydrogenase
    short chain dehydrogenase/reductase family 9C member 6
    NP_003716.2
    XP_005269265.1
    XP_006719735.1
    XP_011537229.1
    XP_024305019.1
    XP_047285758.1
    XP_054229669.1
    XP_054229670.1
    XP_054229671.1
    XP_054229672.1
    XP_054229673.1
    XP_054229674.1
    XP_054229675.1
    XP_054229676.1

    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_003725.4 → NP_003716.2  17-beta-hydroxysteroid dehydrogenase type 6 precursor

      See identical proteins and their annotated locations for NP_003716.2

      Status: REVIEWED

      Source sequence(s)
      AA934892, BC020710
      Consensus CDS
      CCDS8925.1
      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8
      Related
      ENSP00000318631.1, ENST00000322165.1
      Conserved Domains (1) summary
      cd09805
      Location:30 → 306
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56763324..56787790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449251.2 → XP_024305019.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X2

      UniProtKB/TrEMBL
      A0A219K5H4
      Conserved Domains (1) summary
      cl25409
      Location:30 → 250
      SDR; Short-chain dehydrogenases/reductases (SDR)

    2. XM_005269208.2 → XP_005269265.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      See identical proteins and their annotated locations for XP_005269265.1

      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8
      Conserved Domains (1) summary
      cd09805
      Location:30 → 306
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

    3. XM_006719672.2 → XP_006719735.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      See identical proteins and their annotated locations for XP_006719735.1

      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8
      Conserved Domains (1) summary
      cd09805
      Location:30 → 306
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

    4. XM_011538927.2 → XP_011537229.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      See identical proteins and their annotated locations for XP_011537229.1

      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8
      Conserved Domains (1) summary
      cd09805
      Location:30 → 306
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

    5. XM_047429802.1 → XP_047285758.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X3

      UniProtKB/TrEMBL
      A0A219K684

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56720359..56755674
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373695.1 → XP_054229670.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275

    2. XM_054373694.1 → XP_054229669.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275

    3. XM_054373699.1 → XP_054229674.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275

    4. XM_054373696.1 → XP_054229671.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275

    5. XM_054373698.1 → XP_054229673.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275

    6. XM_054373701.1 → XP_054229676.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X2

      UniProtKB/TrEMBL
      A0A219K5H4

    7. XM_054373697.1 → XP_054229672.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275

    8. XM_054373700.1 → XP_054229675.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14756.1 GenPept UniProtKB/Swiss-Prot:O14756

    Gene LinkOut

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