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Aliases for HSD17B1 Gene

Aliases for HSD17B1 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 1 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 28CE, Member 1 2 3
  • Short Chain Dehydrogenase/Reductase Family 28C Member 1 3 4
  • Placental 17-Beta-Hydroxysteroid Dehydrogenase 3 4
  • 17-Beta-Hydroxysteroid Dehydrogenase Type 1 3 4
  • 20 Alpha-Hydroxysteroid Dehydrogenase 3 4
  • 17-Beta-HSD 1 3 4
  • 20-ALPHA-HSD 3 4
  • EDH17B2 3 4
  • SDR28C1 3 4
  • EDHB17 3 4
  • E2DH 3 4
  • Hydroxysteroid (17-Beta) Dehydrogenase 1 2
  • Estradiol 17-Beta-Dehydrogenase-1 2
  • Estradiol 17-Beta-Dehydrogenase 1 3
  • 17-Beta-HSD 3
  • EC 1.1.1.62 4
  • EDH17B1 4
  • E17KSR 4
  • HSD17 3

External Ids for HSD17B1 Gene

Previous HGNC Symbols for HSD17B1 Gene

  • EDHB17
  • EDH17B2

Previous GeneCards Identifiers for HSD17B1 Gene

  • GC17P040268
  • GC17P042872
  • GC17P040612
  • GC17P041077
  • GC17P041074
  • GC17P037954
  • GC17P040701
  • GC17P036468

Summaries for HSD17B1 Gene

Entrez Gene Summary for HSD17B1 Gene

  • This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GeneCards Summary for HSD17B1 Gene

HSD17B1 (Hydroxysteroid 17-Beta Dehydrogenase 1) is a Protein Coding gene. Diseases associated with HSD17B1 include Acute T Cell Leukemia and Endometriosis. Among its related pathways are superpathway of steroid hormone biosynthesis and Androstenedione and testosterone biosynthesis and metabolism p.1. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and testosterone dehydrogenase (NAD+) activity. An important paralog of this gene is RDH8.

UniProtKB/Swiss-Prot for HSD17B1 Gene

  • Favors the reduction of estrogens and androgens. Also has 20-alpha-HSD activity. Uses preferentially NADH.

Gene Wiki entry for HSD17B1 Gene

Additional gene information for HSD17B1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B1 Gene

Genomics for HSD17B1 Gene

GeneHancer (GH) Regulatory Elements for HSD17B1 Gene

Promoters and enhancers for HSD17B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I042551 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 558.7 +4.5 4463 4.3 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B HSD17B1 LOC108783654 TUBG2 PSMC3IP MLX KLHL10 ENSG00000267340 STAT5A ENSG00000266929
GH17I042546 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 557.8 -1.5 -1542 2.8 HDGF CTCF ZBTB6 BACH1 SIN3A EBF1 ZIC2 ZBTB40 RAD21 ETS1 HSD17B1 HSD17B1P1 TUBG2 NAGLU ENSG00000266929
GH17I043322 Enhancer 1.5 Ensembl ENCODE dbSUPER 58.1 +773.9 773949 1.6 CLOCK MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 ENSG00000267340 UBTF ASB16-AS1 ENSG00000267002 DHX8 HMGN1P29 TMUB2 NBR2 LINC00910 PLEKHH3
GH17I041687 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 20 -858.8 -858815 6.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 EIF1 GC17P041691 GC17P041692 ENSG00000267758 ENSG00000259623 KLHL10 CNTNAP1 NT5C3B STAT5A CCR10
GH17I042672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.2 +129.5 129484 11.4 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 CNTNAP1 CCR10 PLEKHH3 ENSG00000267042 TUBG2 HSD17B1P1 ENSG00000267002 HMGN1P29 HMGN2P15 ENSG00000259623
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSD17B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSD17B1 gene promoter:

Genomic Locations for HSD17B1 Gene

Genomic Locations for HSD17B1 Gene
chr17:42,549,214-42,555,214
(GRCh38/hg38)
Size:
6,001 bases
Orientation:
Plus strand
chr17:40,701,232-40,707,232
(GRCh37/hg19)

Genomic View for HSD17B1 Gene

Genes around HSD17B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B1 Gene

Proteins for HSD17B1 Gene

  • Protein details for HSD17B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14061-DHB1_HUMAN
    Recommended name:
    Estradiol 17-beta-dehydrogenase 1
    Protein Accession:
    P14061
    Secondary Accessions:
    • B3KXS1
    • Q2M2L8

    Protein attributes for HSD17B1 Gene

    Size:
    328 amino acids
    Molecular mass:
    34950 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for HSD17B1 Gene

neXtProt entry for HSD17B1 Gene

Post-translational modifications for HSD17B1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for HSD17B1 Gene

Domains & Families for HSD17B1 Gene

Gene Families for HSD17B1 Gene

Graphical View of Domain Structure for InterPro Entry

P14061

UniProtKB/Swiss-Prot:

DHB1_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 HSD17B1: view

Function for HSD17B1 Gene

Molecular function for HSD17B1 Gene

GENATLAS Biochemistry:
17 beta-hydroxysteroid dehydrogenase,type I,microsomal,NAD dependent,converting estrogens and androgens playing an essential role in the formation of active intracellular sex steroids
UniProtKB/Swiss-Prot CatalyticActivity:
17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H.
UniProtKB/Swiss-Prot Function:
Favors the reduction of estrogens and androgens. Also has 20-alpha-HSD activity. Uses preferentially NADH.

Enzyme Numbers (IUBMB) for HSD17B1 Gene

Phenotypes From GWAS Catalog for HSD17B1 Gene

Gene Ontology (GO) - Molecular Function for HSD17B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 8547176
GO:0004303 estradiol 17-beta-dehydrogenase activity TAS,IEA --
GO:0005496 steroid binding IDA 4396689
GO:0016491 oxidoreductase activity IEA --
GO:0047035 testosterone dehydrogenase (NAD+) activity IEA --
genes like me logo Genes that share ontologies with HSD17B1: view
genes like me logo Genes that share phenotypes with HSD17B1: view

Animal Models for HSD17B1 Gene

MGI Knock Outs for HSD17B1:

Animal Model Products

miRNA for HSD17B1 Gene

miRTarBase miRNAs that target HSD17B1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSD17B1 Gene

Localization for HSD17B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD17B1 gene
Compartment Confidence
cytosol 5
extracellular 2
mitochondrion 2
nucleus 2
plasma membrane 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HSD17B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS,IEA 8547176
GO:0005829 cytosol TAS,IEA --
genes like me logo Genes that share ontologies with HSD17B1: view

Pathways & Interactions for HSD17B1 Gene

genes like me logo Genes that share pathways with HSD17B1: view

UniProtKB/Swiss-Prot P14061-DHB1_HUMAN

  • Pathway: Steroid biosynthesis; estrogen biosynthesis.

Gene Ontology (GO) - Biological Process for HSD17B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process TAS 8547176
GO:0006703 estrogen biosynthetic process TAS,IEA --
GO:0008210 estrogen metabolic process TAS 2584224
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HSD17B1: view

No data available for SIGNOR curated interactions for HSD17B1 Gene

Drugs & Compounds for HSD17B1 Gene

(16) Drugs for HSD17B1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1400
Estrone Approved Pharma Agonist Estrogenic hormone 22
Equilin Approved Pharma Target 0
Dehydroepiandrosterone Approved, Investigational Nutra Target 100

(11) Additional Compounds for HSD17B1 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
16a-Hydroxyestrone
  • 16 alpha-Hydroxyestrone
  • 16a-Hydroxyestrone
  • 3,16a-Dihydroxy-1,3,5(10)-estratrien-17-one
  • 3,16a-Dihydroxy-Estra-1,3,5(10)-trien-17-one
  • Estra-1,3,5(10)-triene-3,16a-diol-17-one
566-76-7
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

(1) ApexBio Compounds for HSD17B1 Gene

Compound Action Cas Number
TC HSD 21 330203-01-5
genes like me logo Genes that share compounds with HSD17B1: view

Drug Products

Transcripts for HSD17B1 Gene

Unigene Clusters for HSD17B1 Gene

Hydroxysteroid (17-beta) dehydrogenase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for HSD17B1 Gene

GeneLoc Exon Structure for
HSD17B1
ECgene alternative splicing isoforms for
HSD17B1

Expression for HSD17B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSD17B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HSD17B1 Gene

This gene is overexpressed in Placenta (67.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HSD17B1 Gene



Protein tissue co-expression partners for HSD17B1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HSD17B1 Gene:

HSD17B1

SOURCE GeneReport for Unigene cluster for HSD17B1 Gene:

Hs.654385

Evidence on tissue expression from TISSUES for HSD17B1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with HSD17B1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B1 Gene

Orthologs for HSD17B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HSD17B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSD17B1 34
  • 99 (a)
OneToOne
LOC100614183 33
  • 89.95 (n)
dog
(Canis familiaris)
Mammalia HSD17B1 33 34
  • 82.57 (n)
cow
(Bos Taurus)
Mammalia HSD17B1 33 34
  • 79.5 (n)
rat
(Rattus norvegicus)
Mammalia Hsd17b1 33
  • 75.61 (n)
mouse
(Mus musculus)
Mammalia Hsd17b1 33 16 34
  • 75.29 (n)
oppossum
(Monodelphis domestica)
Mammalia HSD17B1 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 41 (a)
ManyToMany
chicken
(Gallus gallus)
Aves HSD17B1 33 34
  • 64.53 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 37 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489679 33
  • 57.67 (n)
zebrafish
(Danio rerio)
Actinopterygii hsd17b1 33 34
  • 58.54 (n)
Dr.26588 33
fruit fly
(Drosophila melanogaster)
Insecta sro 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6045 34
  • 5 (a)
OneToMany
Species where no ortholog for HSD17B1 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HSD17B1 Gene

ENSEMBL:
Gene Tree for HSD17B1 (if available)
TreeFam:
Gene Tree for HSD17B1 (if available)

Paralogs for HSD17B1 Gene

Paralogs for HSD17B1 Gene

(3) SIMAP similar genes for HSD17B1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for HSD17B1 Gene

genes like me logo Genes that share paralogs with HSD17B1: view

Variants for HSD17B1 Gene

Sequence variations from dbSNP and Humsavar for HSD17B1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000027727 -- 42,553,972(+) G/A intron_variant
rs1000409159 -- 42,551,317(+) T/C upstream_transcript_variant
rs1002344676 -- 42,551,178(+) T/G upstream_transcript_variant
rs1002850516 -- 42,555,396(+) A/G downstream_transcript_variant
rs1003758694 -- 42,553,696(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HSD17B1 Gene

Variant ID Type Subtype PubMed ID
esv30001 CNV loss 17803354
esv33998 OTHER inversion 15654335
esv3640608 CNV loss 21293372
esv3640609 CNV gain 21293372
nsv1064012 CNV gain 25217958
nsv111876 CNV deletion 16902084
nsv1146669 OTHER inversion 26484159
nsv960106 CNV duplication 23825009

Variation tolerance for HSD17B1 Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B1 Gene

Human Gene Mutation Database (HGMD)
HSD17B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD17B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B1 Gene

Disorders for HSD17B1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HSD17B1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acute t cell leukemia
  • precursor t lymphoblastic leukemia
endometriosis
acute closed-angle glaucoma
  • acute angle-closure glaucoma
prostate cancer
  • prostate cancer, susceptibility to
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards

Genatlas disease for HSD17B1 Gene

hirsutism with amenorrhea and polycystic ovarian disease

Additional Disease Information for HSD17B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HSD17B1: view

No data available for UniProtKB/Swiss-Prot for HSD17B1 Gene

Publications for HSD17B1 Gene

  1. Association of testicular germ cell tumor with polymorphisms in estrogen receptor and steroid metabolism genes. (PMID: 19776291) Ferlin A … Foresta C (Endocrine-related cancer 2010) 3 22 44 58
  2. Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer. (PMID: 19015200) Freedman ND … Abnet CC (Carcinogenesis 2009) 3 22 44 58
  3. Genetic polymorphisms of estrogen metabolizing enzyme and breast cancer risk in Thai women. (PMID: 19415745) Sangrajrang S … Yoshida T (International journal of cancer 2009) 3 22 44 58
  4. Genetic variation in hormone metabolizing genes and risk of testicular germ cell tumors. (PMID: 18415690) Figueroa JD … McGlynn KA (Cancer causes & control : CCC 2008) 3 22 44 58
  5. Polymorphisms in steroid hormone biosynthesis genes and risk of breast cancer and fibrocystic breast conditions in Chinese women. (PMID: 18483327) Sakoda LC … Chen C (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 22 44 58

Products for HSD17B1 Gene

Sources for HSD17B1 Gene