Entity Details

Primary name DHB3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP37058
EntryNameDHB3_HUMAN
FullNameTestosterone 17-beta-dehydrogenase 3
TaxID9606
Evidenceevidence at protein level
Length310
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesHSD17B3

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006694 steroid biosynthetic process
GO:0006702 androgen biosynthetic process
GO:0030539 male genitalia development
GO:0043231 intracellular membrane-bounded organelle
GO:0047045 testosterone 17-beta-dehydrogenase (NADP+) activity
GO:0061370 testosterone biosynthetic process
GO:0072582 17-beta-hydroxysteroid dehydrogenase (NADP+) activity

Subcellular Location

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Subcellular Location
Endoplasmic reticulum

Domains

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DomainNameCategoryType
IPR002347 Short-chain dehydrogenase/reductase SDRFamilyFamily
IPR020904 Short-chain dehydrogenase/reductase, conserved siteSiteConserved site
IPR033281 Testosterone 17-beta-dehydrogenase 3FamilyFamily
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
264300 OMIMMale pseudohermaphrodism with gynecomastia (MPH)An autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule