MGP Database

MGP005890

UniProt Annotations

Entry Information
Gene Namesteroid 5 alpha-reductase 3
Protein EntryPORED_HUMAN
UniProt IDQ9H8P0
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityA 3-oxo-5-alpha-steroid + NADP(+) = a 3-oxo- Delta(4)-steroid + NADPH.
Catalytic ActivityDitrans,polycis-dolichol + NADP(+) = ditrans,polycis-polyprenol + NADPH.
DiseaseCongenital disorder of glycosylation 1Q (CDG1Q) [MIM:612379]: 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. {ECO:0000269|PubMed:20637498, ECO:0000269|PubMed:22240719}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseKahrizi syndrome (KHRZ) [MIM:612713]: An autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features. {ECO:0000269|PubMed:20700148}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT). {ECO:0000269|PubMed:17986282, ECO:0000269|PubMed:20637498}.
PathwayProtein modification; protein glycosylation. {ECO:0000269|PubMed:20637498}.
SimilarityBelongs to the steroid 5-alpha reductase family. Polyprenol reductase subfamily. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000305|PubMed:20637498}; Multi-pass membrane protein {ECO:0000305|PubMed:20637498}.
Tissue SpecificityOverexpressed in hormone-refractory prostate cancers (HRPC). Almost no or little expression in normal adult organs. {ECO:0000269|PubMed:17986282}.
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