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

Aliases for HSD17B7 Gene

Aliases for HSD17B7 Gene

  • Hydroxysteroid (17-Beta) Dehydrogenase 7 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 37C Member 1 3 4
  • 17-Beta-Hydroxysteroid Dehydrogenase 7 3 4
  • Estradiol 17-Beta-Dehydrogenase 7 3 4
  • 17-Beta-HSD 7 3 4
  • SDR37C1 3 4
  • Short Chain Dehydrogenase/Reductase Family 37C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 37C 2
  • 17 Beta-Hydroxysteroid Dehydrogenase Type VII 3
  • 17beta Hydroxysteroid Dehydrogenase 3
  • EC 1.1.1.270 4
  • EC 1.1.1.62 4
  • Member 1 2
  • PRAP 3

External Ids for HSD17B7 Gene

Previous GeneCards Identifiers for HSD17B7 Gene

  • GC01P160395
  • GC01P158411
  • GC01P159456
  • GC01P159947
  • GC01P159492
  • GC01P161027
  • GC01P162760
  • GC01P134005

Summaries for HSD17B7 Gene

Entrez Gene Summary for HSD17B7 Gene

  • HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]

GeneCards Summary for HSD17B7 Gene

HSD17B7 (Hydroxysteroid (17-Beta) Dehydrogenase 7) is a Protein Coding gene. Diseases associated with HSD17B7 include x-linked chondrodysplasia punctata. Among its related pathways are Metabolism and Prostate Cancer. GO annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase activity.

UniProtKB/Swiss-Prot for HSD17B7 Gene

  • Responsible for the reduction of the keto group on the C-3 of sterols.

Gene Wiki entry for HSD17B7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B7 Gene

Genomics for HSD17B7 Gene

Regulatory Elements for HSD17B7 Gene

Promoters for HSD17B7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HSD17B7 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSD17B7 Gene

Chromosome:
1
Start:
162,790,702 bp from pter
End:
162,812,818 bp from pter
Size:
22,117 bases
Orientation:
Plus strand

Genomic View for HSD17B7 Gene

Genes around HSD17B7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B7 Gene

Proteins for HSD17B7 Gene

  • Protein details for HSD17B7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56937-DHB7_HUMAN
    Recommended name:
    3-keto-steroid reductase
    Protein Accession:
    P56937
    Secondary Accessions:
    • Q5T246
    • Q7Z4V9
    • Q8WWS2
    • Q9UF00

    Protein attributes for HSD17B7 Gene

    Size:
    341 amino acids
    Molecular mass:
    38206 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HSD17B7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD17B7 Gene

Proteomics data for HSD17B7 Gene at MOPED

Post-translational modifications for HSD17B7 Gene

Other Protein References for HSD17B7 Gene

No data available for DME Specific Peptides for HSD17B7 Gene

Domains & Families for HSD17B7 Gene

Gene Families for HSD17B7 Gene

Suggested Antigen Peptide Sequences for HSD17B7 Gene

Graphical View of Domain Structure for InterPro Entry

P56937

UniProtKB/Swiss-Prot:

DHB7_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily.
genes like me logo Genes that share domains with HSD17B7: view

Function for HSD17B7 Gene

Molecular function for HSD17B7 Gene

GENATLAS Biochemistry:
17 beta hydroxysteroid dehydrogenase type 7,expressed in the corpus luteum during pregnancy,responsible for extradive biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
A 3-beta-hydroxysteroid + NADP(+) = a 3-oxosteroid + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H.
UniProtKB/Swiss-Prot Function:
Responsible for the reduction of the keto group on the C-3 of sterols.

Enzyme Numbers (IUBMB) for HSD17B7 Gene

genes like me logo Genes that share phenotypes with HSD17B7: view

Animal Models for HSD17B7 Gene

MGI Knock Outs for HSD17B7:

Animal Model Products

  • Taconic Biosciences Mouse Models for HSD17B7

miRNA for HSD17B7 Gene

miRTarBase miRNAs that target HSD17B7

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSD17B7 Gene

Localization for HSD17B7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B7 Gene

Cell membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD17B7 Gene COMPARTMENTS Subcellular localization image for HSD17B7 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
mitochondrion 2
cytosol 1
extracellular 1
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HSD17B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with HSD17B7: view

Pathways & Interactions for HSD17B7 Gene

genes like me logo Genes that share pathways with HSD17B7: view

UniProtKB/Swiss-Prot P56937-DHB7_HUMAN

  • Pathway: Steroid biosynthesis; estrogen biosynthesis.
  • Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 5/6.

Interacting Proteins for HSD17B7 Gene

Gene Ontology (GO) - Biological Process for HSD17B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with HSD17B7: view

No data available for SIGNOR curated interactions for HSD17B7 Gene

Drugs & Compounds for HSD17B7 Gene

(6) Drugs for HSD17B7 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Estradiol Approved, Investigational Pharma Sex hormone 1094
Estriol Approved Pharma Agonist 0
Estrone Approved Pharma Agonist Estrogenic hormone 19
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(20) Additional Compounds for HSD17B7 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
3-Keto-4-methylzymosterol
  • (5a)-4-methylcholesta-8,24-dien-3-one
  • (5alpha)-4-methylcholesta-8,24-dien-3-one
  • 3-Dehydro-4-methylzymosterol
  • 3-Keto-4-methylzymosterol
  • 4-Methyl-5a-cholesta-8,24-dien-3-one
genes like me logo Genes that share compounds with HSD17B7: view

Transcripts for HSD17B7 Gene

Unigene Clusters for HSD17B7 Gene

Hydroxysteroid (17-beta) dehydrogenase 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B7 Gene

No ASD Table

Relevant External Links for HSD17B7 Gene

GeneLoc Exon Structure for
HSD17B7
ECgene alternative splicing isoforms for
HSD17B7

Expression for HSD17B7 Gene

mRNA expression in normal human tissues for HSD17B7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD17B7 Gene

This gene is overexpressed in Liver (x6.0).

Protein differential expression in normal tissues from HIPED for HSD17B7 Gene

This gene is overexpressed in Colon muscle (32.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HSD17B7 Gene



SOURCE GeneReport for Unigene cluster for HSD17B7 Gene Hs.492925

mRNA Expression by UniProt/SwissProt for HSD17B7 Gene

P56937-DHB7_HUMAN
Tissue specificity: Highly expressed in adrenal gland, liver, lung and thymus. Expressed in breast, ovaries, pituitary gland, pregnant uterus, prostate, kidney, lymph node, small intestine, spinal cord and trachea. Weakly expressed in all other tissues tested. Isoform 3 is expressed in eye ciliary epithelial cells and neuroendocrine cells.
genes like me logo Genes that share expression patterns with HSD17B7: view

Protein tissue co-expression partners for HSD17B7 Gene

Primer Products

In Situ Assay Products

Orthologs for HSD17B7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD17B7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSD17B7 35
  • 86.79 (n)
  • 85.59 (a)
HSD17B7 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B7 35
  • 85.66 (n)
  • 86.67 (a)
HSD17B7 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd17b7 35
  • 80.42 (n)
  • 78.92 (a)
Hsd17b7 16
Hsd17b7 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSD17B7 35
  • 99.61 (n)
  • 99.71 (a)
HSD17B7 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd17b7 35
  • 81.84 (n)
  • 81.74 (a)
oppossum
(Monodelphis domestica)
Mammalia HSD17B7 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSD17B7 35
  • 65.53 (n)
  • 63.35 (a)
HSD17B7 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSD17B7 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b7 35
  • 67.7 (n)
  • 66.25 (a)
zebrafish
(Danio rerio)
Actinopterygii hsd17b7 35
  • 64.2 (n)
  • 61.11 (a)
hsd17b7 36
  • 59 (a)
OneToMany
hsd17b7 36
  • 59 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR068W 35
  • 40.25 (n)
  • 25.61 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19756g 35
  • 41.41 (n)
  • 26.09 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG27 35
  • 42.98 (n)
  • 25.47 (a)
ERG27 36
  • 22 (a)
OneToOne
ERG27 38
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg27 35
  • 42.75 (n)
  • 32.47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9141 36
  • 42 (a)
OneToOne
Species with no ortholog for HSD17B7:
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 HSD17B7 Gene

ENSEMBL:
Gene Tree for HSD17B7 (if available)
TreeFam:
Gene Tree for HSD17B7 (if available)

Paralogs for HSD17B7 Gene

(1) SIMAP similar genes for HSD17B7 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for HSD17B7 Gene

genes like me logo Genes that share paralogs with HSD17B7: view

No data available for Paralogs for HSD17B7 Gene

Variants for HSD17B7 Gene

Sequence variations from dbSNP and Humsavar for HSD17B7 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1060464 -- 162,812,702(+) TATAT(A/G)TAAAA utr-variant-3-prime
rs1060466 -- 162,812,707(+) ATAAA(A/G)CCAGA utr-variant-3-prime
rs1039874 -- 162,806,736(-) CCTTC(C/T)AAGTT intron-variant
rs1137574 -- 162,812,587(+) GTGGG(A/G)GGATC utr-variant-3-prime
rs1137575 -- 162,812,680(+) CAAAA(C/T)ATGTA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HSD17B7 Gene

Variant ID Type Subtype PubMed ID
nsv516482 CNV Gain+Loss 19592680
esv1698857 CNV Insertion 17803354

Variation tolerance for HSD17B7 Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.09; 69.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSD17B7 Gene

HapMap Linkage Disequilibrium report
HSD17B7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B7 Gene

Disorders for HSD17B7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HSD17B7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
x-linked chondrodysplasia punctata
  • chondrodystrophia calcificans congenita
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HSD17B7

Genetic Association Database (GAD)
HSD17B7
Human Genome Epidemiology (HuGE) Navigator
HSD17B7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD17B7
genes like me logo Genes that share disorders with HSD17B7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSD17B7 Gene

Publications for HSD17B7 Gene

  1. Determination of cDNA, gene structure and chromosomal localization of the novel human 17beta-hydroxysteroid dehydrogenase type 7. (PMID: 10544267) Krazeisen A. … Adamski J. (FEBS Lett. 1999) 2 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. Functional analysis of cholesterol biosynthesis by RNA interference. (PMID: 17498944) Guggenberger C. … Adamski J. (J. Steroid Biochem. Mol. Biol. 2007) 3 23
  4. Analysis of the 5' flanking regions of human and murine HSD17B7: identification of a cholesterol dependent enhancer region. (PMID: 16356630) Ohnesorg T. … Adamski J. (Mol. Cell. Endocrinol. 2006) 3 23
  5. Two 17beta-hydroxysteroid dehydrogenases (17HSDs) of estradiol biosynthesis: 17HSD type 1 and type 7. (PMID: 10419022) Peltoketo H. … Vihko P. (J. Steroid Biochem. Mol. Biol. 1999) 2 3

Products for HSD17B7 Gene

Sources for HSD17B7 Gene

Back to Top

Content