Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 51478
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol HSD17B7   Gene   UCSC   Ensembl
Aliases PRAP, SDR37C1
Gene name hydroxysteroid 17-beta dehydrogenase 7
Alternate names 3-keto-steroid reductase, 17 beta-hydroxysteroid dehydrogenase type VII, 17-beta-HSD 7, 17-beta-hydroxysteroid dehydrogenase 7, 17beta hydroxysteroid dehydrogenase, estradiol 17-beta-dehydrogenase 7, short chain dehydrogenase/reductase family 37C member 1,
Gene location 1q23.3 (162790701: 162812817)     Exons: 10     NC_000001.11
Gene summary(Entrez) 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]
OMIM 606756

Protein Summary

Protein general information P56937  

Name: 3 keto steroid reductase (EC 1.1.1.270) (17 beta hydroxysteroid dehydrogenase 7) (17 beta HSD 7) (Estradiol 17 beta dehydrogenase 7) (EC 1.1.1.62) (Short chain dehydrogenase/reductase family 37C member 1)

Length: 341  Mass: 38,206

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 te

Sequence MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIVQVDVSNLQSVFRASK
ELKQRFQRLDCIYLNAGIMPNPQLNIKALFFGLFSRKVIHMFSTAEGLLTQGDKITADGLQEVFETNVFGHFILI
RELEPLLCHSDNPSQLIWTSSRSARKSNFSLEDFQHSKGKEPYSSSKYATDLLSVALNRNFNQQGLYSNVACPGT
ALTNLTYGILPPFIWTLLMPAILLLRFFANAFTLTPYNGTEALVWLFHQKPESLNPLIKYLSATTGFGRNYIMTQ
KMDLDEDTAEKFYQKLLELEKHIRVTIQKTDNQARLSGSCL
Structural information
Interpro:  IPR016040 IPR002347

Pfam:  
PF00106
STRING:   ENSP00000254521;
Other Databases GeneCards:  HSD17B7;  Malacards:  HSD17B7

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000253 3-keto sterol reductase a
ctivity
TAS molecular_function
GO:0000253 3-keto sterol reductase a
ctivity
TAS molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
IEA molecular_function
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006695 cholesterol biosynthetic
process
TAS biological_process
GO:0006703 estrogen biosynthetic pro
cess
IEA biological_process
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0000253 3-keto sterol reductase a
ctivity
IEA molecular_function
GO:0000253 3-keto sterol reductase a
ctivity
IEA molecular_function
GO:0000253 3-keto sterol reductase a
ctivity
TAS molecular_function
GO:0000253 3-keto sterol reductase a
ctivity
TAS molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
IEA molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
TAS molecular_function
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006629 lipid metabolic process
IEA biological_process
GO:0006694 steroid biosynthetic proc
ess
IEA biological_process
GO:0006695 cholesterol biosynthetic
process
IEA biological_process
GO:0006695 cholesterol biosynthetic
process
TAS biological_process
GO:0006703 estrogen biosynthetic pro
cess
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016491 oxidoreductase activity
IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0000253 3-keto sterol reductase a
ctivity
TAS molecular_function
GO:0000253 3-keto sterol reductase a
ctivity
TAS molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
TAS molecular_function
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006695 cholesterol biosynthetic
process
TAS biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa00140  Steroid hormone biosynthesis
hsa04913  Ovarian steroidogenesis
hsa00100  Steroid biosynthesis

Diseases

Associated diseases References
Cancer PMID: 19460435
Endometriosis PMID: 17454161
Hypertension PMID: 19536175
Endometriosis INFBASE17454161

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17454161 Endometrio
sis

25 (16 samples
of ovarian endo
metriosis, 9 of
normal endomet
rium)
Aromatase
17beta-HSD types 1
17beta-HSD types 7
sulfatase
Erbeta
Eralpha
Show abstract