Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HSD17B1 Gene

Aliases for HSD17B1 Gene

  • Hydroxysteroid (17-Beta) Dehydrogenase 1 2 3
  • EDH17B2 3 4 6
  • 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
  • Estradiol 17-Beta-Dehydrogenase-1 2 3
  • 17-Beta-HSD 1 3 4
  • 20-ALPHA-HSD 3 4
  • SDR28C1 3 4
  • EDHB17 3 4
  • E2DH 3 4
  • Short Chain Dehydrogenase/Reductase Family 28CE, Member 1 3
  • Hydroxysteroid (17-Beta) Dehydrogenase 1 Isoform 3
  • Short Chain Dehydrogenase/Reductase Family 28CE 2
  • Estradiol 17-Beta-Dehydrogenase 1 3
  • EC 1.1.1.62 4
  • Member 1 2
  • EDH17B1 4
  • E17KSR 4
  • HSD17 3

External Ids for HSD17B1 Gene

Previous Symbols for HSD17B1 Gene

  • EDHB17
  • EDH17B2

Summaries for HSD17B1 Gene

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 ovarian disease. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include estradiol 17-beta-dehydrogenase activity. An important paralog of this gene is HSD11B2.

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

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

Genomics for HSD17B1 Gene

Genomic Location for HSD17B1 Gene

Start:
42,548,357 bp from pter
End:
42,555,214 bp from pter
Size:
6,858 bases
Orientation:
Plus strand

Genomic View for HSD17B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HSD17B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B1 Gene

Regulatory Elements 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

Proteomics data for HSD17B1 Gene at MOPED

Post-translational modifications for HSD17B1 Gene

No Post-translational modifications

Other Protein References for HSD17B1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HSD17B1 Gene

Domains for HSD17B1 Gene

Gene Families for HSD17B1 Gene

HGNC:
  • SDRC2 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

Graphical View of Domain Structure for InterPro Entry

P14061

UniProtKB/Swiss-Prot:

DHB1_HUMAN
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.:
    • P14061
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

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 --
GO:0016491 oxidoreductase activity --
GO:0047035 testosterone dehydrogenase (NAD+) activity IEA --
genes like me logo Genes that share ontologies with HSD17B1: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HSD17B1 Gene

Localization for HSD17B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD17B1 Gene COMPARTMENTS Subcellular localization image for HSD17B1 gene
Compartment Confidence
cytosol 4
mitochondrion 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HSD17B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with HSD17B1: view

Pathways 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

Interacting Proteins for HSD17B1 Gene

Gene Ontology (GO) - Biological Process for HSD17B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process TAS 8547176
GO:0006703 estrogen biosynthetic process TAS --
GO:0008152 metabolic process --
GO:0008202 steroid metabolic process TAS --
GO:0008210 estrogen metabolic process TAS 2584224
genes like me logo Genes that share ontologies with HSD17B1: view

Compounds for HSD17B1 Gene

(8) HMDB Compounds for HSD17B1 Gene

Compound Synonyms Cas Number PubMed IDs
16a-Hydroxyestrone
  • 16a-Hydroxyestrone
566-76-7
Estradiol
  • (+)-3,17b-Estradiol
50-28-2
Estriol
  • 13b-Methyl-1,3,5(10)-gonatriene-3,16a,17b-triol
50-27-1
Estrone
  • (+)-Estrone
53-16-7
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9

(9) Drugbank Compounds for HSD17B1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2'-Monophosphoadenosine 5'-Diphosphoribose
target
4-Androstenedione
63-05-8 target inducer
Androstanedione
846-46-8 target
Dehydroepiandrosterone
  • 3-beta-Hydroxy-5-androsten-17-one
53-43-0 target
Dihydrotestosterone
  • (5a,17b)-17-Hydroxyandrostan-3-one
521-18-6 target

(9) Novoseek inferred chemical compound relationships for HSD17B1 Gene

Compound -log(P) Hits PubMed IDs
17beta-hydroxysteroid 89.9 11
hydroxysteroid 85.6 4
estrone 79.5 7
estradiol 67.8 12
estrogen 61.5 13
genes like me logo Genes that share compounds with HSD17B1: view

Transcripts for HSD17B1 Gene

Unigene Clusters for HSD17B1 Gene

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

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 for HSD17B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HSD17B1 Gene

SOURCE GeneReport for Unigene cluster for HSD17B1 Gene Hs.654385

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

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 36
  • 99 (a)
OneToOne
LOC100614183 35
  • 89.95 (n)
  • 80.89 (a)
cow
(Bos Taurus)
Mammalia HSD17B1 35
  • 79.5 (n)
  • 73.03 (a)
HSD17B1 36
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B1 35
  • 82.57 (n)
  • 79.65 (a)
HSD17B1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd17b1 35
  • 75.29 (n)
  • 73.45 (a)
Hsd17b1 16
Hsd17b1 36
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSD17B1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 41 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Hsd17b1 35
  • 75.61 (n)
  • 75.26 (a)
chicken
(Gallus gallus)
Aves HSD17B1 35
  • 64.53 (n)
  • 57.3 (a)
HSD17B1 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 37 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489679 35
  • 57.67 (n)
  • 53.98 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.26588 35
hsd17b1 35
  • 58.54 (n)
  • 52.65 (a)
hsd17b1 36
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sro 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6045 36
  • 5 (a)
OneToMany
Species with no ortholog for HSD17B1:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs2830 -- 42,552,545(+) AACCA(A/G)CACAT utr-variant-5-prime, intron-variant, nc-transcript-variant
rs470904 -- 42,550,906(+) ttact(A/G)tatga upstream-variant-2KB, intron-variant
rs592389 -- 42,555,426(-) CTTGG(G/T)TATCC downstream-variant-500B
rs597255 -- 42,553,082(+) GAGGC(C/T)AGAAG intron-variant, reference, missense, nc-transcript-variant
rs604204 -- 42,546,512(+) CCCAC(A/G)TGGGA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv908249 CNV Loss 21882294
dgv3172n71 CNV Loss 21882294
esv33998 OTHER Inversion 15654335
nsv908255 CNV Loss 21882294
esv30001 CNV Loss 17803354
nsv111876 CNV Loss 16902084

Relevant External Links for HSD17B1 Gene

HapMap Linkage Disequilibrium report
HSD17B1
Human Gene Mutation Database (HGMD)
HSD17B1

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

Disorders for HSD17B1 Gene

(2) University of Copenhagen DISEASES for HSD17B1 Gene

(6) Novoseek inferred disease relationships for HSD17B1 Gene

Disease -log(P) Hits PubMed IDs
breast cancer 47.5 32
endometriosis 41.7 7
prostate cancer 28.5 6
ovarian cancer 20.6 2
tumors 10.3 7

Genatlas disease for HSD17B1 Gene

hirsutism with amenorrhea and polycystic ovarian disease

Relevant External Links for HSD17B1

Genetic Association Database (GAD)
HSD17B1
Human Genome Epidemiology (HuGE) Navigator
HSD17B1
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. HSD17B1 and CYP17 polymorphisms and breast cancer risk among Chinese women in Singapore. (PMID: 12584742) Wu A.H. … Yu M.C. (Int. J. Cancer 2003) 3 23 48
  2. HSD17B1 gene polymorphisms and risk of endometrial and breast cancer. (PMID: 14973105) Setiawan V.W. … De Vivo I. (Cancer Epidemiol. Biomarkers Prev. 2004) 3 23 48
  3. Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19. (PMID: 15640252) Tsuchiya M. … Ikenoue T. (Hum. Reprod. 2005) 3 23 48
  4. Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-gene interactions. (PMID: 16260521) Huber A. … Tempfer C.B. (Obstet Gynecol 2005) 3 23 48
  5. Genetic variation in the HSD17B1 gene and risk of prostate cancer. (PMID: 16311626) Kraft P. … Wacholder S. (PLoS Genet. 2005) 3 23 48

Products for HSD17B1 Gene

Sources for HSD17B1 Gene

Back to Top

Content