Entity Details

Primary name S5A2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP31213
EntryNameS5A2_HUMAN
FullName3-oxo-5-alpha-steroid 4-dehydrogenase 2
TaxID9606
Evidenceevidence at protein level
Length254
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesSRD5A2

GO terms

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GOName
GO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity
GO:0005789 endoplasmic reticulum membrane
GO:0006694 steroid biosynthetic process
GO:0006702 androgen biosynthetic process
GO:0007267 cell-cell signaling
GO:0008209 androgen metabolic process
GO:0008584 male gonad development
GO:0009917 sterol 5-alpha reductase activity
GO:0016021 integral component of membrane
GO:0016491 oxidoreductase activity
GO:0030154 cell differentiation
GO:0030283 testosterone dehydrogenase [NAD(P)] activity
GO:0030539 male genitalia development
GO:0047751 cholestenone 5-alpha-reductase activity
GO:0061370 testosterone biosynthetic process

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Microsome membrane

Domains

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DomainNameCategoryType
IPR001104 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminalDomainDomain
IPR016636 3-oxo-5-alpha-steroid 4-dehydrogenaseFamilyFamily
IPR039357 3-oxo-5-alpha-steroid 4-dehydrogenase/very-long-chain enoyl-CoA reductaseFamilyFamily

Diseases

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Disease IDSourceNameDescription
264600 OMIMPseudovaginal perineoscrotal hypospadias (PPSH)A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00421 SpironolactoneDrugbanksmall molecule
DB00548 Azelaic acidDrugbanksmall molecule
DB00717 NorethisteroneDrugbanksmall molecule
DB00741 HydrocortisoneDrugbanksmall molecule
DB01126 DutasterideDrugbanksmall molecule
DB01216 FinasterideDrugbanksmall molecule
DB01420 Testosterone propionateDrugbanksmall molecule
DB13943 Testosterone cypionateDrugbanksmall molecule
DB13944 Testosterone enanthateDrugbanksmall molecule
DB13946 Testosterone undecanoateDrugbanksmall molecule

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
S5A2_HUMANCRTP1_HUMANBioGRID, IntAct32296183 details
S5A2_HUMANGNMT_HUMANBioGRID, IntAct32296183 details