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Aliases for HSD17B6 Gene

Aliases for HSD17B6 Gene

  • Hydroxysteroid (17-Beta) Dehydrogenase 6 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 9C Member 6 3 4
  • Oxidative 3-Alpha-Hydroxysteroid-Dehydrogenase 2 3
  • Oxidative 3-Alpha Hydroxysteroid Dehydrogenase 3 4
  • 3(Alpha->Beta)-Hydroxysteroid Epimerasel 2 3
  • 3-Alpha->Beta-Hydroxysteroid Epimerase 3 4
  • 3-Hydroxysteroid Epimerase 2 3
  • Retinol Dehydrogenase 2 3
  • 3-Alpha->Beta-HSE 3 4
  • Oxidoreductase 2 3
  • 17-Beta-HSD 6 3 4
  • EC 1.1.1.105 4 63
  • SDR9C6 3 4
  • RODH 3 4
  • NAD+ -Dependent 3 Alpha-Hydroxysteroid Dehydrogenase 3-Hydroxysteroid Epimerase 3
  • Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog (Mouse) 2
  • Short Chain Dehydrogenase/Reductase Family 9C, Member 6 3
  • NAD+ -Dependent 3 Alpha-Hydroxysteroid Dehydrogenase 2
  • Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog 3
  • Short Chain Dehydrogenase/Reductase Family 9C 2
  • 3(Alpha->Beta)-Hydroxysteroid Epimerase 3
  • 17-Beta-HSD6 4
  • EC 1.1.1.239 4
  • EC 1.1.1.62 4
  • Member 6 2
  • EC 1.1.1 63
  • HSE 3

External Ids for HSD17B6 Gene

Previous GeneCards Identifiers for HSD17B6 Gene

  • GC12P055444
  • GC12P057157
  • GC12P054196

Summaries for HSD17B6 Gene

Entrez Gene Summary for HSD17B6 Gene

  • 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]

GeneCards Summary for HSD17B6 Gene

HSD17B6 (Hydroxysteroid (17-Beta) Dehydrogenase 6) is a Protein Coding gene. Diseases associated with HSD17B6 include Ovarian Endometrioid Stromal Sarcoma and Ovary Sarcoma. Among its related pathways are Glucose / Energy Metabolism and Metabolism of xenobiotics by cytochrome P450. GO annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is HSD11B2.

UniProtKB/Swiss-Prot for HSD17B6 Gene

  • 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.

Gene Wiki entry for HSD17B6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B6 Gene

Genomics for HSD17B6 Gene

Regulatory Elements for HSD17B6 Gene

Enhancers for HSD17B6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HSD17B6 on UCSC Golden Path with GeneCards custom track

Promoters for HSD17B6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HSD17B6 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSD17B6 Gene

Chromosome:
12
Start:
56,752,161 bp from pter
End:
56,787,790 bp from pter
Size:
35,630 bases
Orientation:
Plus strand

Genomic View for HSD17B6 Gene

Genes around HSD17B6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B6 Gene

Proteins for HSD17B6 Gene

  • Protein details for HSD17B6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14756-H17B6_HUMAN
    Recommended name:
    17-beta-hydroxysteroid dehydrogenase type 6
    Protein Accession:
    O14756
    Secondary Accessions:
    • O43275

    Protein attributes for HSD17B6 Gene

    Size:
    317 amino acids
    Molecular mass:
    35966 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB88252.1; Type=Frameshift; Positions=158, 174; Evidence={ECO:0000305};

neXtProt entry for HSD17B6 Gene

Proteomics data for HSD17B6 Gene at MOPED

Selected DME Specific Peptides for HSD17B6 Gene

Post-translational modifications for HSD17B6 Gene

  • Glycosylation at Asn 161, Asn 215, and Asn 256
  • Modification sites at PhosphoSitePlus

Other Protein References for HSD17B6 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HSD17B6 (HSD17B6)

Domains & Families for HSD17B6 Gene

Gene Families for HSD17B6 Gene

Protein Domains for HSD17B6 Gene

Suggested Antigen Peptide Sequences for HSD17B6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14756

UniProtKB/Swiss-Prot:

H17B6_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B6: view

Function for HSD17B6 Gene

Molecular function for HSD17B6 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.19 uM for NAD {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=0.18 uM for NADH {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=54 uM for NADPH {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=940 uM for NADP {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=3.2 uM for all-trans-retinol {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=0.24 uM for allopregnanolone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=0.13 uM for 3-alpha-androstanediol {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=0.23 uM for androsterone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=0.13 uM for dehydroepiandrosterone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Vmax=1.2 nmol/min/mg enzyme with all-trans-retinol {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Vmax=14.7 nmol/min/mg enzyme with allopregnanolone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Vmax=16.5 nmol/min/mg enzyme with 3-alpha-androstanediol {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Vmax=35 nmol/min/mg enzyme with androsterone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Vmax=0.90 nmol/min/mg enzyme with dehydroepiandrosterone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Note=The kinetic parameters were determined using microsomes from transfected cells.;
UniProtKB/Swiss-Prot CatalyticActivity:
17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H.
UniProtKB/Swiss-Prot CatalyticActivity:
Testosterone + NAD(+) = androstenedione + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
All-trans-retinol-[cellular-retinol-binding-protein] + NAD(+) = all-trans-retinal-[cellular-retinol-binding-protein] + NADH.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for HSD17B6 Gene

Gene Ontology (GO) - Molecular Function for HSD17B6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity IEA --
GO:0009055 electron carrier activity TAS 9188497
genes like me logo Genes that share ontologies with HSD17B6: view
genes like me logo Genes that share phenotypes with HSD17B6: view

Animal Model Products

miRNA for HSD17B6 Gene

miRTarBase miRNAs that target HSD17B6

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HSD17B6 Gene

Localization for HSD17B6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B6 Gene

Microsome membrane; Peripheral membrane protein; Lumenal side. Early endosome membrane; Peripheral membrane protein; Lumenal side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD17B6 Gene COMPARTMENTS Subcellular localization image for HSD17B6 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
endosome 3
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 2
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for HSD17B6 Gene

Pathways & Interactions for HSD17B6 Gene

genes like me logo Genes that share pathways with HSD17B6: view

Pathways by source for HSD17B6 Gene

1 Cell Signaling Technology pathway for HSD17B6 Gene

Interacting Proteins for HSD17B6 Gene

Gene Ontology (GO) - Biological Process for HSD17B6 Gene

None

No data available for SIGNOR curated interactions for HSD17B6 Gene

Drugs & Compounds for HSD17B6 Gene

(10) Drugs for HSD17B6 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Vitamin A Approved Nutra 438
Estradiol Approved, Investigational Pharma Sex hormone 1235
Estriol Approved Pharma Agonist 0
Estrone Approved Pharma Agonist Estrogenic hormone 19

(8) Additional Compounds for HSD17B6 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11beta,17beta-Dihydroxy-4-androsten-3-one
11b-Hydroxyandrost-4-ene-3,17-dione
  • 11beta-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
382-44-5
16b-Hydroxyestrone
  • 16-Hydroxyestrone
  • 16alpha-Hydroxyestrone
  • 16beta-Hydroxyestrone
  • 3,16-Dihydroxy-Estra-1,3,5(10)-trien-17-one
  • 3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
966-06-3
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with HSD17B6: view

Transcripts for HSD17B6 Gene

mRNA/cDNA for HSD17B6 Gene

Unigene Clusters for HSD17B6 Gene

Hydroxysteroid (17-beta) dehydrogenase 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B6 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1: - - - -
SP2:
SP3: - - -
SP4: - - -
SP5: - -
SP6: - - - - - - - - -
SP7: - -
SP8: -

Relevant External Links for HSD17B6 Gene

GeneLoc Exon Structure for
HSD17B6
ECgene alternative splicing isoforms for
HSD17B6

Expression for HSD17B6 Gene

mRNA expression in normal human tissues for HSD17B6 Gene

mRNA differential expression in normal tissues according to GTEx for HSD17B6 Gene

This gene is overexpressed in Liver (x30.5).

Protein differential expression in normal tissues from HIPED for HSD17B6 Gene

This gene is overexpressed in Gallbladder (34.9) and Liver (25.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HSD17B6 Gene



SOURCE GeneReport for Unigene cluster for HSD17B6 Gene Hs.524513

mRNA Expression by UniProt/SwissProt for HSD17B6 Gene

O14756-H17B6_HUMAN
Tissue specificity: 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.
genes like me logo Genes that share expression patterns with HSD17B6: view

Primer Products

No data available for Protein tissue co-expression partners for HSD17B6 Gene

Orthologs for HSD17B6 Gene

This gene was present in the common ancestor of animals.

Orthologs for HSD17B6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSD17B6 35
  • 85.38 (n)
  • 79.5 (a)
HSD17B6 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B6 35
  • 85.38 (n)
  • 80.44 (a)
HSD17B6 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd17b6 35
  • 77.95 (n)
  • 73.42 (a)
Hsd17b6 16
Hsd17b6 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 63 (a)
ManyToMany
-- 36
  • 61 (a)
ManyToMany
-- 36
  • 60 (a)
ManyToMany
-- 36
  • 60 (a)
ManyToMany
-- 36
  • 61 (a)
ManyToMany
-- 36
  • 63 (a)
ManyToMany
-- 36
  • 60 (a)
ManyToMany
-- 36
  • 56 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii -- 35
dhrs9 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dhs-20 35
  • 50 (n)
  • 43.17 (a)
Species with no ortholog for HSD17B6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HSD17B6 Gene

ENSEMBL:
Gene Tree for HSD17B6 (if available)
TreeFam:
Gene Tree for HSD17B6 (if available)

Paralogs for HSD17B6 Gene

Paralogs for HSD17B6 Gene

(7) SIMAP similar genes for HSD17B6 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for HSD17B6 Gene

genes like me logo Genes that share paralogs with HSD17B6: view

Variants for HSD17B6 Gene

Sequence variations from dbSNP and Humsavar for HSD17B6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs7295862 -- 56,775,374(+) cacca(C/T)gcctg intron-variant
rs12822879 -- 56,756,563(+) tcttt(C/T)tctct intron-variant
rs12826939 -- 56,787,994(+) caact(G/T)ttagc downstream-variant-500B
rs12827132 -- 56,788,075(+) tcaat(C/T)gactt downstream-variant-500B
rs12828479 -- 56,767,750(+) atata(C/T)gtata intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HSD17B6 Gene

Variant ID Type Subtype PubMed ID
nsv826382 CNV Gain 20364138
esv2667772 CNV Deletion 23128226

Variation tolerance for HSD17B6 Gene

Residual Variation Intolerance Score: 74.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.46% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for HSD17B6 Gene

Disorders for HSD17B6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HSD17B6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ovarian endometrioid stromal sarcoma
ovary sarcoma
  • sarcoma of ovary
factitious disorder
  • munchausen syndrome
apparent mineralocorticoid excess
  • apparent mineralocorticoid excess syndrome
testicular leydig cell tumor
  • testicular leydig cell neoplasm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HSD17B6

Genetic Association Database (GAD)
HSD17B6
Human Genome Epidemiology (HuGE) Navigator
HSD17B6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD17B6
genes like me logo Genes that share disorders with HSD17B6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSD17B6 Gene

Publications for HSD17B6 Gene

  1. Expression cloning and characterization of oxidative 17beta- and 3alpha-hydroxysteroid dehydrogenases from rat and human prostate. (PMID: 9188497) Biswas M.G. … Russell D.W. (J. Biol. Chem. 1997) 3 4 23 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. 3-nitropropionic acid is a suicide inhibitor of mitochondrial respiration that, upon oxidation by complex II, forms a covalent adduct with a catalytic base arginine in the active site of the enzyme. (PMID: 16371358) Huang L.S. … Berry E.A. (J. Biol. Chem. 2006) 25 26
  4. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. (PMID: 16405730) Bayley J.P. … Taschner P.E. (BMC Med. Genet. 2006) 25 26
  5. Protection of mitochondrial system by Hippophae rhamnoides L. against radiation-induced oxidative damage in mice. (PMID: 15639001) Goel H.C. … Bala M. (J. Pharm. Pharmacol. 2005) 25 26

Products for HSD17B6 Gene

Sources for HSD17B6 Gene

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