Polyprenal reductase

Function

Plays a key role in early steps of protein N-linked glycosylation by being involved in the conversion of polyprenol into dolichol. Acts as a polyprenal reductase that mediates the reduction of polyprenal into dolichal in a NADP-dependent mechanism. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT).

Classification

Family (Pfam)

PF02544 Steroid_dh

InterPro

3-oxo-5_a-steroid_4-DH_C, Dfg10/SRD5A3

Functional cluster

Membrane Channels & Lipid-Anchored Proteins

Gene Ontology · 10

• GO:0005783 endoplasmic reticulum
• GO:0005789 endoplasmic reticulum membrane
• GO:0047751 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity
• GO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity
• GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
• GO:0160198 polyprenal reductase activity
• GO:0006702 androgen biosynthetic process
• GO:0006488 dolichol-linked oligosaccharide biosynthetic process
• GO:0043048 dolichyl monophosphate biosynthetic process
• GO:0016095 polyprenol catabolic process

Disease associations

• SRD5A3-congenital disorder of glycosylation MONDO:0012885
• Kahrizi syndrome MONDO:0012991

Drugs targeting this protein · 2

• DUTASTERIDE inhibitor
• ABIRATERONE inhibitor

Related proteins · sequence + function similarity

• Polyprenal reductase 0.99
• Polyprenal reductase 0.97
• Polyprenal reductase 0.96
• Polyprenal reductase 0.96
• Polyprenal reductase 0.89
• Polyprenal reductase 0.86
• 3-oxo-5-alpha-steroid 4-dehydrogenase 1 0.82
• 3-oxo-5-alpha-steroid 4-dehydrogenase 1 0.79
• 3-oxo-5-alpha-steroid 4-dehydrogenase 1 0.77
• Delta(14)-sterol reductase TM7SF2 0.76
• Polyprenal reductase 0.76
• 3-oxo-5-alpha-steroid 4-dehydrogenase 2 0.75

Co-cited proteins · studied together in the literature

• Polyprenal reductase 2 shared papers
• UDP-galactose translocator 1 shared papers
• Polyprenal reductase 1 shared papers
• Polyprenol dehydrogenase 1 shared papers

Literature · 20 cited papers

• A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis. Cell · 2024
• Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation. BMC Res. Notes · 2023
• A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report. Clin. Case Rep. · 2022
• SRD5A3-CDG: Twins with an intragenic tandem duplication. Eur. J. Med. Genet. · 2022
• Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5alpha-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case. Folia Biol. (Praha) · 2019
• Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). Ophthalmic Genet. · 2018
• Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing. Indian J. Med. Res. · 2018
• Association of steroid 5alpha-reductase type 3 congenital disorder of glycosylation with early-onset retinal dystrophy. JAMA Ophthalmol. · 2017
• SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am. J. Med. Genet. A · 2016
• Characterization of 5alpha-reductase activity and isoenzymes in human abdominal adipose tissues. J. Steroid Biochem. Mol. Biol. · 2016
• Phenotypic expansion of congenital disorder of glycosylation due to SRD5A3 null mutation. JIMD Rep. · 2016
• Adult phenotype and further phenotypic variability in SRD5A3-CDG. BMC Med. Genet. · 2014
• … and 8 more in the literature graph