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O14756

- H17B6_HUMAN

UniProt

O14756 - H17B6_HUMAN

Protein

17-beta-hydroxysteroid dehydrogenase type 6

Gene

HSD17B6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids.3 Publications

    Catalytic activityi

    17-beta-estradiol + NAD(P)+ = estrone + NAD(P)H.
    Testosterone + NAD+ = androstenedione + NADH.
    All-trans-retinol-[cellular-retinol-binding-protein] + NAD+ = all-trans-retinal-[cellular-retinol-binding-protein] + NADH.

    Kineticsi

    The kinetic parameters were determined using microsomes from transfected cells.

    1. KM=0.19 µM for NAD2 Publications
    2. KM=0.18 µM for NADH2 Publications
    3. KM=54 µM for NADPH2 Publications
    4. KM=940 µM for NADP2 Publications
    5. KM=3.2 µM for all-trans-retinol2 Publications
    6. KM=0.24 µM for allopregnanolone2 Publications
    7. KM=0.13 µM for 3-alpha-androstanediol2 Publications
    8. KM=0.23 µM for androsterone2 Publications
    9. KM=0.13 µM for dehydroepiandrosterone2 Publications

    Vmax=1.2 nmol/min/mg enzyme with all-trans-retinol2 Publications

    Vmax=14.7 nmol/min/mg enzyme with allopregnanolone2 Publications

    Vmax=16.5 nmol/min/mg enzyme with 3-alpha-androstanediol2 Publications

    Vmax=35 nmol/min/mg enzyme with androsterone2 Publications

    Vmax=0.90 nmol/min/mg enzyme with dehydroepiandrosterone2 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei164 – 1641SubstrateSequence Analysis
    Active sitei176 – 1761Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi33 – 5725NADBy similarityAdd
    BLAST

    GO - Molecular functioni

    1. catalytic activity Source: ProtInc
    2. electron carrier activity Source: UniProtKB
    3. estradiol 17-beta-dehydrogenase activity Source: UniProtKB-EC
    4. oxidoreductase activity Source: UniProtKB
    5. retinol dehydrogenase activity Source: UniProtKB-EC
    6. testosterone dehydrogenase (NAD+) activity Source: UniProtKB-EC

    GO - Biological processi

    1. androgen biosynthetic process Source: UniProtKB
    2. androgen catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Lipid metabolism, Steroid metabolism

    Keywords - Ligandi

    NAD

    Enzyme and pathway databases

    ReactomeiREACT_160156. The canonical retinoid cycle in rods (twilight vision).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    17-beta-hydroxysteroid dehydrogenase type 6 (EC:1.1.1.105, EC:1.1.1.239, EC:1.1.1.62)
    Short name:
    17-beta-HSD 6
    Short name:
    17-beta-HSD6
    Alternative name(s):
    3-alpha->beta-hydroxysteroid epimerase
    Short name:
    3-alpha->beta-HSE
    Oxidative 3-alpha hydroxysteroid dehydrogenase
    Gene namesi
    Name:HSD17B6
    Synonyms:RODH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:23316. HSD17B6.

    Subcellular locationi

    Microsome membrane 1 Publication; Peripheral membrane protein 1 Publication; Lumenal side 1 Publication. Early endosome membrane Curated; Peripheral membrane protein Curated; Lumenal side Curated

    GO - Cellular componenti

    1. early endosome membrane Source: UniProtKB-SubCell
    2. endoplasmic reticulum Source: UniProtKB-KW
    3. intracellular Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Endosome, Membrane, Microsome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671671.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 31730017-beta-hydroxysteroid dehydrogenase type 6PRO_0000303211Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi161 – 1611N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi215 – 2151N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi256 – 2561N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiO14756.
    PRIDEiO14756.

    PTM databases

    PhosphoSiteiO14756.

    Expressioni

    Tissue specificityi

    Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain, placenta, prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate nucleus, and at lower levels in amygdala, corpus callosum, hippocampus, substantia nigra and thalamus. Detected in fetal lung, liver and brain.2 Publications

    Gene expression databases

    ArrayExpressiO14756.
    BgeeiO14756.
    CleanExiHS_HSD17B6.
    GenevestigatoriO14756.

    Organism-specific databases

    HPAiHPA059141.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000318631.

    Structurei

    3D structure databases

    ProteinModelPortaliO14756.
    SMRiO14756. Positions 27-281.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG1028.
    HOVERGENiHBG005482.
    InParanoidiO14756.
    KOiK13369.
    OMAiPITLCEW.
    OrthoDBiEOG7FXZZX.
    PhylomeDBiO14756.
    TreeFamiTF325617.

    Family and domain databases

    Gene3Di3.40.50.720. 1 hit.
    InterProiIPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    IPR020904. Sc_DH/Rdtase_CS.
    [Graphical view]
    PfamiPF00106. adh_short. 1 hit.
    [Graphical view]
    PRINTSiPR00081. GDHRDH.
    PR00080. SDRFAMILY.
    PROSITEiPS00061. ADH_SHORT. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    O14756-1 [UniParc]FASTAAdd to Basket

    « Hide

    MWLYLAAFVG LYYLLHWYRE RQVVSHLQDK YVFITGCDSG FGNLLARQLD    50
    ARGLRVLAAC LTEKGAEQLR GQTSDRLETV TLDVTKMESI AAATQWVKEH 100
    VGDRGLWGLV NNAGILTPIT LCEWLNTEDS MNMLKVNLIG VIQVTLSMLP 150
    LVRRARGRIV NVSSILGRVA FFVGGYCVSK YGVEAFSDIL RREIQHFGVK 200
    ISIVEPGYFR TGMTNMTQSL ERMKQSWKEA PKHIKETYGQ QYFDALYNIM 250
    KEGLLNCSTN LNLVTDCMEH ALTSVHPRTR YSAGWDAKFF FIPLSYLPTS 300
    LADYILTRSW PKPAQAV 317
    Length:317
    Mass (Da):35,966
    Last modified:January 1, 1998 - v1
    Checksum:i46F1E940605CBEE9
    GO

    Sequence cautioni

    The sequence AAB88252.1 differs from that shown. Reason: Frameshift at positions 158 and 174.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti63 – 631E → D in AAB88252. (PubMed:9188497)Curated
    Sequence conflicti105 – 1051G → R in AAB88252. (PubMed:9188497)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U89281 mRNA. Translation: AAB88252.1. Frameshift.
    AF016509 mRNA. Translation: AAB67236.1.
    AF223225 mRNA. Translation: AAF81017.1.
    BC020710 mRNA. Translation: AAH20710.1.
    CCDSiCCDS8925.1.
    RefSeqiNP_003716.2. NM_003725.3.
    XP_005269264.1. XM_005269207.1.
    XP_005269265.1. XM_005269208.1.
    XP_005269266.1. XM_005269209.1.
    XP_006719735.1. XM_006719672.1.
    UniGeneiHs.524513.

    Genome annotation databases

    EnsembliENST00000322165; ENSP00000318631; ENSG00000025423.
    ENST00000554150; ENSP00000452273; ENSG00000025423.
    ENST00000554643; ENSP00000451406; ENSG00000025423.
    ENST00000555159; ENSP00000450698; ENSG00000025423.
    ENST00000555805; ENSP00000451753; ENSG00000025423.
    GeneIDi8630.
    KEGGihsa:8630.
    UCSCiuc001smg.1. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U89281 mRNA. Translation: AAB88252.1 . Frameshift.
    AF016509 mRNA. Translation: AAB67236.1 .
    AF223225 mRNA. Translation: AAF81017.1 .
    BC020710 mRNA. Translation: AAH20710.1 .
    CCDSi CCDS8925.1.
    RefSeqi NP_003716.2. NM_003725.3.
    XP_005269264.1. XM_005269207.1.
    XP_005269265.1. XM_005269208.1.
    XP_005269266.1. XM_005269209.1.
    XP_006719735.1. XM_006719672.1.
    UniGenei Hs.524513.

    3D structure databases

    ProteinModelPortali O14756.
    SMRi O14756. Positions 27-281.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000318631.

    Chemistry

    DrugBanki DB00139. Succinic acid.

    PTM databases

    PhosphoSitei O14756.

    Proteomic databases

    PaxDbi O14756.
    PRIDEi O14756.

    Protocols and materials databases

    DNASUi 8630.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000322165 ; ENSP00000318631 ; ENSG00000025423 .
    ENST00000554150 ; ENSP00000452273 ; ENSG00000025423 .
    ENST00000554643 ; ENSP00000451406 ; ENSG00000025423 .
    ENST00000555159 ; ENSP00000450698 ; ENSG00000025423 .
    ENST00000555805 ; ENSP00000451753 ; ENSG00000025423 .
    GeneIDi 8630.
    KEGGi hsa:8630.
    UCSCi uc001smg.1. human.

    Organism-specific databases

    CTDi 8630.
    GeneCardsi GC12P057157.
    HGNCi HGNC:23316. HSD17B6.
    HPAi HPA059141.
    MIMi 606623. gene.
    neXtProti NX_O14756.
    PharmGKBi PA142671671.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1028.
    HOVERGENi HBG005482.
    InParanoidi O14756.
    KOi K13369.
    OMAi PITLCEW.
    OrthoDBi EOG7FXZZX.
    PhylomeDBi O14756.
    TreeFami TF325617.

    Enzyme and pathway databases

    Reactomei REACT_160156. The canonical retinoid cycle in rods (twilight vision).

    Miscellaneous databases

    GeneWikii HSD17B6.
    GenomeRNAii 8630.
    NextBioi 32349.
    PROi O14756.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14756.
    Bgeei O14756.
    CleanExi HS_HSD17B6.
    Genevestigatori O14756.

    Family and domain databases

    Gene3Di 3.40.50.720. 1 hit.
    InterProi IPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    IPR020904. Sc_DH/Rdtase_CS.
    [Graphical view ]
    Pfami PF00106. adh_short. 1 hit.
    [Graphical view ]
    PRINTSi PR00081. GDHRDH.
    PR00080. SDRFAMILY.
    PROSITEi PS00061. ADH_SHORT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression cloning and characterization of oxidative 17beta- and 3alpha-hydroxysteroid dehydrogenases from rat and human prostate."
      Biswas M.G., Russell D.W.
      J. Biol. Chem. 272:15959-15966(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Prostate.
    2. "Molecular characterization of a first human 3(alpha-->beta)-hydroxysteroid epimerase."
      Huang X.-F., Luu-The V.
      J. Biol. Chem. 275:29452-29457(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY.
      Tissue: Liver.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Lung.
    4. "Further characterization of human microsomal 3alpha-hydroxysteroid dehydrogenase."
      Chetyrkin S.V., Hu J., Gough W.H., Dumaual N., Kedishvili N.Y.
      Arch. Biochem. Biophys. 386:1-10(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, SUBCELLULAR LOCATION.
    5. "Gene structure, chromosomal localization and analysis of 3-ketosteroid reductase activity of the human 3(alpha-->beta)-hydroxysteroid epimerase."
      Huang X.-F., Luu-The V.
      Biochim. Biophys. Acta 1520:124-130(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiH17B6_HUMAN
    AccessioniPrimary (citable) accession number: O14756
    Secondary accession number(s): O43275
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 124 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3