Version: 8.0.0
Date: Tue Jan 28 2025
SRD5A3
Homo sapiensHGNC:25812
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SRD5A3

Species
Homo sapiens
Symbol
SRD5A3
Name
steroid 5 alpha-reductase 3
Synonyms
  • 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))
  • 3-oxo-5-alpha-steroid 4-dehydrogenase 3
Biotype
protein coding gene
Automated Description
Enables 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity and polyprenal reductase activity. Involved in dolichol biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; and polyprenol catabolic process. Located in endoplasmic reticulum. Is active in endoplasmic reticulum membrane. Implicated in Kahrizi syndrome and congenital disorder of glycosylation Iq.
RGD Description
The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR14624
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          SRD5A3 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            SRD5A3 role
            SRD5A3 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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