HSD17B6: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

HSD17B6

Aliases

HSE, RODH, SDR9C6

Entrez Gene ID

8630

Gene Name

Hydroxysteroid 17-beta dehydrogenase 6

Chromosomal Location

12q13.3

HGNC ID

HGNC:23316

Summary

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 to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]

e!Ensembl

Gene	ENSG00000025423
Transcript	ENST00000555159, ENST00000555805, ENST00000554643, ENST00000556650, ENST00000554150, ENST00000554155, ENST00000322165
Protein	ENSP00000450698, ENSP00000451753, ENSP00000451406, ENSP00000452103, ENSP00000452273, ENSP00000451497, ENSP00000318631

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs898611	GGGGCACAGAGAGAGTCTGGACACGT	-/G	GGGGAGTCAGCCGTGTATCATCGGA	Intron variant	21039282, 17070195

Gene Ontology (GO)

Show/Hide all(5 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006702	Biological process	Androgen biosynthetic process	NAS	9188497
GO:0006710	Biological process	Androgen catabolic process	TAS	9188497
GO:0003824	Molecular function	Catalytic activity	TAS	9188497
GO:0009055	Molecular function	Electron transfer activity	TAS	9188497
GO:0016491	Molecular function	Oxidoreductase activity	NAS	9188497

Protein Information

Protein Name

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 epimerase, 3(alpha->beta)-hydroxysteroid epimerasel, 3-alpha->beta-HSE, 3-hydroxysteroid epimerase, NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid epimerase, hydroxysteroid (17-beta) dehydrogenase 6 homolog, oxidative 3-alpha-hydroxysteroid-dehydrogenase, oxidoreductase, retinol dehydrogenase, short chain dehydrogenase/reductase family 9C member 6

Function

NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids.

UniProt

O14756

Pfam

Pfam Accession	Pfam ID
PF00106	adh_short