Gene: RPN1

Alternate names for this Gene: OST1|RBPH1

Gene Summary: This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.3

Description of this Gene: ribophorin I

Type of Gene: protein-coding

rs2712417 in RPN1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs13315649 in RPN1 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs13315649 in RPN1 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs146639727 in RPN1 gene and Kidney Failure, Chronic PMID 31178898 2019 Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.

rs2712381 in RPN1 gene and Monocyte count procedure PMID 23314186 2013 Genetic variation associated with circulating monocyte count in the eMERGE Network.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2712381 in RPN1 gene and Monocyte count result PMID 23314186 2013 Genetic variation associated with circulating monocyte count in the eMERGE Network.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34198449 in RPN1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.