HSD17B1

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.

Full Name

hydroxysteroid (17-beta) dehydrogenase 1

Function

Favors the reduction of estrogens and androgens. Converts estrone (E1) to a more potent estrogen, 17beta-estradiol (E2) (PubMed:8994190).

Also has 20-alpha-HSD activity. Uses preferentially NADH.

Biological Process

Bone development Source: Ensembl
Cellular response to metal ion Source: Ensembl
Estrogen biosynthetic process Source: UniProtKB
Estrogen metabolic process Source: ProtInc
Steroid biosynthetic process Source: ProtInc
Testosterone biosynthetic process Source: UniProtKB

Cellular Location

Cytoplasm