DISEASES

Disease-gene associations mined from literature

Literature associating RPN1 and extraosseous osteosarcoma

RPN1 [ENSP00000296255]

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity; Belongs to the OST1 family.

Synonyms:  RPN1,  RPN1p,  hRPN1,  B7Z4L4,  F8WF32 ...

Linkouts:  STRING  Pharos  UniProt  OMIM