HSD17B1

Name

hydroxysteroid 17-beta dehydrogenase 1

Type

protein-coding

Position

42,552,920–42,555,217 (+)

Aliases

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

Ensembl

ENSG00000108786

RefSeq RNA

NM_000413.4, NM_001330219.3, NR_144397.2

RefSeq protein

NP_000404.2, NP_001317148.1

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].

via MyGene.info

Gene · Ensembl

hydroxysteroid 17-beta dehydrogenase 1

Symbol

HSD17B1

Biotype

Protein coding

Organism

Homo sapiens

Location

17:42,552,920-42,555,217

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

Protein HSD17B1 PDB 1a27.png

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