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

    Gene ID: 8630, updated on 19-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HSD17B6 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56763324..56787790)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56720359..56755674)
    105.20220307 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

    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?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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)

    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_003725.4NP_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:30306
      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_2023_10

    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_024449251.2XP_024305019.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X2

      UniProtKB/TrEMBL
      A0A219K5H4
      Conserved Domains (1) summary
      cl25409
      Location:30250
      SDR; Short-chain dehydrogenases/reductases (SDR)
    2. XM_005269208.2XP_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:30306
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    3. XM_006719672.2XP_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:30306
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    4. XM_011538927.2XP_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:30306
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
    5. XM_047429802.1XP_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_054373695.1XP_054229670.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8
    2. XM_054373694.1XP_054229669.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8
    3. XM_054373699.1XP_054229674.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8
    4. XM_054373696.1XP_054229671.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8
    5. XM_054373698.1XP_054229673.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8
    6. XM_054373701.1XP_054229676.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X2

      UniProtKB/TrEMBL
      A0A219K5H4
    7. XM_054373697.1XP_054229672.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8
    8. XM_054373700.1XP_054229675.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

      UniProtKB/Swiss-Prot
      O14756, O43275
      UniProtKB/TrEMBL
      B2R8L8