InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HSD17B3

Summary

InnateDB Protein

IDBP-77325.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HSD17B3

Protein Name

hydroxysteroid (17-beta) dehydrogenase 3

Synonyms

EDH17B3; SDR12C2;

Species

Homo sapiens

Ensembl Protein

ENSP00000364412

InnateDB Gene

IDBG-77323 (HSD17B3)

Protein Structure

UniProt Annotation

Function

Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.

Subcellular Localization

Disease Associations

Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]: These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place. {ECO:0000269PubMed:11158067, ECO:0000269PubMed:8075637, ECO:0000269PubMed:8550739, ECO:0000269PubMed:9709959, ECO:0000269PubMed:9758445}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Testis.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016491	oxidoreductase activity
GO:0047045	testosterone 17-beta-dehydrogenase (NADP+) activity

Biological Process

GO:0006702	androgen biosynthetic process
GO:0008152	metabolic process
GO:0008202	steroid metabolic process
GO:0030539	male genitalia development
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process
GO:0061370	testosterone biosynthetic process