Entity Details

Primary name SRD5A3
Entity type gene
Source Source Link

Details

PrimaryID79644
RefseqGeneNG_028230
SymbolSRD5A3
Namesteroid 5 alpha-reductase 3
Chromosome4
Location4q12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPORED_HUMAN

GO terms

Show/Hide Table
GOName
GO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0006489 dolichyl diphosphate biosynthetic process
GO:0006702 androgen biosynthetic process
GO:0016021 integral component of membrane
GO:0016095 polyprenol catabolic process
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0019348 dolichol metabolic process
GO:0019408 dolichol biosynthetic process
GO:0047751 cholestenone 5-alpha-reductase activity
GO:0102389 polyprenol reductase activity

Diseases

Show/Hide Table
Disease IDSourceNameDescription
612379 OMIMCongenital disorder of glycosylation 1Q (CDG1Q)A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The disease is caused by variants affecting the gene represented in this entry.
612713 OMIMKahrizi syndrome (KHRZ)An autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
SRD5A3ADKBioGRID, IntAct21988832 details
SRD5A3NUDT15BioGRID, IntAct21988832 details
SRD5A3ESR2BioGRID29509190 details
SRD5A3HNRNPLBioGRID28611215 details