• Gene id: 51478

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 (68956130: 68985068)     Exons: 16     NC_000010.11
• 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
• 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: 38206
  • 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: IPR042829  IPR036291  IPR002347  
  • STRING: ENSP00000254521
• Other Databases: GeneCards:  HSD17B7  Malacards:  HSD17B7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000253	3-keto sterol reductase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006695	cholesterol biosynthetic process	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0000253	3-keto sterol reductase activity	IDA	molecular function
GO:0006695	cholesterol biosynthetic process	IDA	biological process
GO:0000253	3-keto sterol reductase activity	IEA	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004303	estradiol 17-beta-dehydrogenase activity	TAS	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	molecular function
GO:0000253	3-keto sterol reductase activity	IEA	molecular function
GO:0000253	3-keto sterol reductase activity	TAS	molecular function
GO:0000253	3-keto sterol reductase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0000253	3-keto sterol reductase activity	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006703	estrogen biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00140	Steroid hormone biosynthesis
hsa04913	Ovarian steroidogenesis
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Oligozoospermia	MIK: 21989496
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
21989496	Oligozoospermia			11 (8 infertile and 3 fertile men)	Male infertility	Microarray