RPN1

Chr 3

ribophorin I

Also known as: OST1, RBPH1

NCBI Gene: 6184ENSG00000163902UniProt: P04843OMIM: 180470

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. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
45
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.47
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.47LOEUF
pLI 0.239
Z-score 3.51
OE 0.24 (0.13–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.74Z-score
OE missense 0.89 (0.81–0.98)
305 obs / 343.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.24 (0.13–0.47)
0≤0.351.4
Missense OE?0.89 (0.81–0.98)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 6 / 24.9Missense obs/exp: 305 / 343.4Syn Z: -0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPN1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients