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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 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
  • EDH17B2 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
  • EC 1.1.1.62 4
  • Member 1 2
  • 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

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 Testicular Germ Cell Tumor. Among its related pathways are Prostate Cancer and Estrone metabolism. GO annotations related to this gene include oxidoreductase activity and testosterone dehydrogenase (NAD+) activity. An important paralog of this gene is DHRS7C.

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

Regulatory Elements for HSD17B1 Gene

Enhancers for HSD17B1 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 HSD17B1 on UCSC Golden Path with GeneCards custom track

Promoters for HSD17B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HSD17B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSD17B1 Gene

Chromosome:
17
Start:
42,549,214 bp from pter
End:
42,555,214 bp from pter
Size:
6,001 bases
Orientation:
Plus strand

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

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:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for HSD17B1 (17 beta-HSD1/HSD17B1)

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

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

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for HSD17B1 Gene COMPARTMENTS Subcellular localization image for HSD17B1 gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HSD17B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA --
GO:0031965 nuclear membrane IDA --
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.

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:0008210 estrogen metabolic process TAS 2584224
GO:0044281 small molecule metabolic process TAS --
GO:0060348 bone development IEA --
GO:0071248 cellular response to metal ion 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Estradiol Approved, Investigational Pharma Sex hormone 1235
Estrone Approved Pharma Agonist Estrogenic hormone 19
Equilin Approved Pharma Target 0
Estriol Approved Pharma Agonist 0
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0

(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
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

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



SOURCE GeneReport for Unigene cluster for HSD17B1 Gene Hs.654385

genes like me logo Genes that share expression patterns with HSD17B1: view

Protein tissue co-expression partners for HSD17B1 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia LOC100614183 35
  • 89.95 (n)
  • 80.89 (a)
HSD17B1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd17b1 35
  • 75.61 (n)
  • 75.26 (a)
oppossum
(Monodelphis domestica)
Mammalia HSD17B1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 41 (a)
ManyToMany
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

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 Sequence Context AA Info Type
rs147402365 - 42,554,578(+) GGTGG(C/T)GGAGG nc-transcript-variant, downstream-variant-500B, reference, missense
rs605059 - 42,554,888(-) CGCAC(C/G/T)GCGCC nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon, missense
rs2830 -- 42,552,545(+) AACCA(A/G)CACAT upstream-variant-2KB, utr-variant-5-prime
rs10153 -- 42,553,769(-) TTCCT(G/T)AGGCG intron-variant
rs470885 -- 42,550,401(+) CCTTG(A/C)CCTGC 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

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)

Relevant External Links for HSD17B1 Gene

Human Gene Mutation Database (HGMD)
HSD17B1

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

Disorders for HSD17B1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HSD17B1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
acute t cell leukemia
  • precursor t lymphoblastic leukemia
testicular germ cell tumor
  • male germ cell tumor, somatic
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Structure of two in tandem human 17 beta-hydroxysteroid dehydrogenase genes. (PMID: 2330005) Luu-The V. … Labrie F. (Mol. Endocrinol. 1990) 2 3 4 67
  2. Association of testicular germ cell tumor with polymorphisms in estrogen receptor and steroid metabolism genes. (PMID: 19776291) Ferlin A. … Foresta C. (Endocr. Relat. Cancer 2010) 3 23
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  4. Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer. (PMID: 19015200) Freedman N.D. … Abnet C.C. (Carcinogenesis 2009) 3 23
  5. Human HSD17B1 expression masculinizes transgenic female mice. (PMID: 19061935) Saloniemi T. … Poutanen M. (Mol. Cell. Endocrinol. 2009) 3 23

Products for HSD17B1 Gene

Sources for HSD17B1 Gene

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