• Gene id: 8630

Gene Summary

• Gene Symbol: HSD17B6   Gene   UCSC   Ensembl
• Aliases: HSE, RODH, SDR9C6
• Gene name: hydroxysteroid 17-beta dehydrogenase 6
• Alternate names: 17-beta-hydroxysteroid dehydrogenase type 6, 17-beta-HSD 6, 17-beta-hydroxysteroid dehydrogenase type 6 variant 1, 17-beta-hydroxysteroid dehydrogenase type 6 variant 2, 17-beta-hydroxysteroid dehydrogenase type 6 variant 3, 3(alpha->beta)-hydroxysteroid epime,
• Gene location: 12q13.3 (56752448: 56787789)     Exons: 10     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone t
• OMIM: 606623

Protein Summary

• Protein general information: O14756  
  • Name: 17 beta hydroxysteroid dehydrogenase type 6 (17 beta HSD 6) (17 beta HSD6) (EC 1.1.1.105) (EC 1.1.1.239) (EC 1.1.1.62) (3 alpha >beta hydroxysteroid epimerase) (3 alpha >beta HSE) (Oxidative 3 alpha hydroxysteroid dehydrogenase) (Short chain dehydrogenase
  • Length: 317  
  • Mass: 35966
  • Tissue specificity: Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain, placenta, prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate nucleus, and at lower levels in amyg
• Sequence:

  MWLYLAAFVGLYYLLHWYRERQVVSHLQDKYVFITGCDSGFGNLLARQLDARGLRVLAACLTEKGAEQLRGQTSD
  RLETVTLDVTKMESIAAATQWVKEHVGDRGLWGLVNNAGILTPITLCEWLNTEDSMNMLKVNLIGVIQVTLSMLP
  LVRRARGRIVNVSSILGRVAFFVGGYCVSKYGVEAFSDILRREIQHFGVKISIVEPGYFRTGMTNMTQSLERMKQ
  SWKEAPKHIKETYGQQYFDALYNIMKEGLLNCSTNLNLVTDCMEHALTSVHPRTRYSAGWDAKFFFIPLSYLPTS
  LADYILTRSWPKPAQAV

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • STRING: ENSP00000451406
• Other Databases: GeneCards:  HSD17B6  Malacards:  HSD17B6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0003824	catalytic activity	TAS	molecular function
GO:0047035	testosterone dehydrogenase (NAD+) activity	IEA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	molecular function
GO:0004745	retinol dehydrogenase activity	IEA	molecular function
GO:0031901	early endosome membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0006710	androgen catabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	NAS	molecular function
GO:0009055	electron transfer activity	TAS	molecular function
GO:0006702	androgen biosynthetic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00830	Retinol metabolism
hsa00140	Steroid hormone biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray