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O14756

- H17B6_HUMAN

UniProt

O14756 - H17B6_HUMAN

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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

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
Complete GO annotation...

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. endoplasmic reticulum Source: UniProtKB-KW
  2. endosome Source: UniProtKB-KW
  3. intracellular Source: UniProtKB
  4. membrane Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiO14756.
CleanExiHS_HSD17B6.
ExpressionAtlasiO14756. baseline and differential.
GenevestigatoriO14756.

Organism-specific databases

HPAiHPA059141.

Interactioni

Protein-protein interaction databases

BioGridi114183. 11 interactions.
STRINGi9606.ENSP00000318631.

Structurei

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG1028.
GeneTreeiENSGT00760000118798.
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

        10         20         30         40         50
MWLYLAAFVG LYYLLHWYRE RQVVSHLQDK YVFITGCDSG FGNLLARQLD
60 70 80 90 100
ARGLRVLAAC LTEKGAEQLR GQTSDRLETV TLDVTKMESI AAATQWVKEH
110 120 130 140 150
VGDRGLWGLV NNAGILTPIT LCEWLNTEDS MNMLKVNLIG VIQVTLSMLP
160 170 180 190 200
LVRRARGRIV NVSSILGRVA FFVGGYCVSK YGVEAFSDIL RREIQHFGVK
210 220 230 240 250
ISIVEPGYFR TGMTNMTQSL ERMKQSWKEA PKHIKETYGQ QYFDALYNIM
260 270 280 290 300
KEGLLNCSTN LNLVTDCMEH ALTSVHPRTR YSAGWDAKFF FIPLSYLPTS
310
LADYILTRSW PKPAQAV
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

BioGridi 114183. 11 interactions.
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.
GeneTreei ENSGT00760000118798.
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

Bgeei O14756.
CleanExi HS_HSD17B6.
ExpressionAtlasi O14756. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 125 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