BAIT

DFG10

L000004073, YIL049W
Probable polyprenol reductase; catalyzes conversion of polyprenol to dolichol, the precursor for N-glycosylation; involved in filamentous growth; mutations in human ortholog SRD5A3 confer CDG (Congenital Disorders of Glycosylation)
GO Process (4)
GO Function (1)
GO Component (1)

Gene Ontology Biological Process

Gene Ontology Molecular Function

Gene Ontology Cellular Component

Saccharomyces cerevisiae (S288c)
PREY

SRD5A3

CDG1P, CDG1Q, KRIZI, SRD5A2L, SRD5A2L1
steroid 5 alpha-reductase 3
Homo sapiens

Phenotypic Suppression

A genetic interaction is inferred when mutation or over expression of one gene results in suppression of any phenotype (other than lethality/growth defect) associated with mutation or over expression of another gene.

Publication

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Bluemel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG

N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylation (CDGs). We describe a new type of CDG caused by mutations in the steroid 5alpha-reductase type 3 (SRD5A3) gene. Patients have mental retardation and ophthalmologic and cerebellar defects. We found that SRD5A3 is ... [more]

Cell Jul. 23, 2010; 142(2);203-17 [Pubmed: 20637498]

Throughput

  • Low Throughput

Ontology Terms

  • protein/peptide modification (APO:0000131)

Additional Notes

  • Expression of human SRD5A3 rescues the N-glycosylation phenotype of dfg10 mutants

Curated By

  • BioGRID