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

Gene ID: 8630, updated on 17-Jun-2019

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
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

Genomic context

See HSD17B6 in Genome Data Viewer
Location:
12q13.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (56752449..56787790)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57146237..57181574)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene nascent polypeptide associated complex subunit alpha Neighboring gene DNA primase subunit 1 Neighboring gene YWHAQ pseudogene 3 Neighboring gene short chain dehydrogenase/reductase family 9C member 7

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
estradiol 17-beta-dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity NAS
Non-traceable Author Statement
more info
PubMed 
retinol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
testosterone dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
androgen biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
androgen catabolic process TAS
Traceable Author Statement
more info
PubMed 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
17-beta-hydroxysteroid dehydrogenase type 6
Names
17-beta-HSD 6
17-beta-hydroxysteroid dehydrogenase type 6 variant 1
17-beta-hydroxysteroid dehydrogenase type 6 variant 2
17-beta-hydroxysteroid dehydrogenase type 6 variant 3
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_005269264.1
XP_005269265.1
XP_005269266.1
XP_006719735.1
XP_011537227.1
XP_011537228.1
XP_011537229.1
XP_024305017.1
XP_024305018.1
XP_024305019.1

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.

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
    UniProtKB/TrEMBL
    A0A024RB43
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    56752449..56787790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538926.1XP_011537228.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    See identical proteins and their annotated locations for XP_011537228.1

    UniProtKB/Swiss-Prot
    O14756
    UniProtKB/TrEMBL
    A0A024RB43
    Related
    ENSP00000451406.1, ENST00000554643.5
    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
  2. XM_024449249.1XP_024305017.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X2

    Conserved Domains (1) summary
    cl25409
    Location:30250
    SDR; Short-chain dehydrogenases/reductases (SDR)
  3. XM_005269207.1XP_005269264.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    See identical proteins and their annotated locations for XP_005269264.1

    UniProtKB/Swiss-Prot
    O14756
    UniProtKB/TrEMBL
    A0A024RB43
    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_024449250.1XP_024305018.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X2

    Conserved Domains (1) summary
    cl25409
    Location:30250
    SDR; Short-chain dehydrogenases/reductases (SDR)
  5. XM_011538925.1XP_011537227.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    See identical proteins and their annotated locations for XP_011537227.1

    UniProtKB/Swiss-Prot
    O14756
    UniProtKB/TrEMBL
    A0A024RB43
    Related
    ENSP00000452273.1, ENST00000554150.5
    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
  6. XM_011538927.1XP_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
    UniProtKB/TrEMBL
    A0A024RB43
    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
  7. XM_024449251.1XP_024305019.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X2

    Conserved Domains (1) summary
    cl25409
    Location:30250
    SDR; Short-chain dehydrogenases/reductases (SDR)
  8. XM_005269208.1XP_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
    UniProtKB/TrEMBL
    A0A024RB43
    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
  9. XM_006719672.1XP_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
    UniProtKB/TrEMBL
    A0A024RB43
    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
  10. XM_005269209.1XP_005269266.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    See identical proteins and their annotated locations for XP_005269266.1

    UniProtKB/Swiss-Prot
    O14756
    UniProtKB/TrEMBL
    A0A024RB43
    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
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