Gene Symbol

HSD17B1

Aliases

17-beta-HSD, 20-alpha-HSD, E2DH, EDH17B2, EDHB17, HSD17, SDR28C1

Entrez Gene ID

3292

Gene Name

Hydroxysteroid 17-beta dehydrogenase 1

Chromosomal Location

17q21.2

HGNC ID

HGNC:5210

Summary

This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Function

Favors the reduction of estrogens and androgens. Also has 20-alpha-HSD activity. Uses preferentially NADH

P14061

PDB

1A27, 1BHS, 1DHT, 1EQU, 1FDS, 1FDT, 1FDU, 1FDV, 1FDW, 1I5R, 1IOL, 1JTV, 1QYV, 1QYW, 1QYX, 3DEY, 3DHE, 3HB4, 3HB5, 3KLM, 3KLP, 3KM0, 6CGC, 6CGE, 6DTP, 6MNC, 6MNE

STRING	MINT	IntAct
ENSP00000466799		P14061