URI1

Chr 19

URI1 prefoldin like chaperone

Also known as: C19orf2, NNX3, PPP1R19, RMP, URI

NCBI Gene: 8725ENSG00000105176UniProt: O94763

The protein functions as a transcriptional repressor and molecular chaperone that regulates androgen receptor-mediated gene transcription and interacts with RNA polymerase II. URI1 is highly tolerant to loss-of-function variants based on constraint metrics, and while associated with various cancers in research studies, no definitive Mendelian disease has been established for this gene. No clear inheritance pattern or pediatric neurological phenotype has been documented for URI1 mutations.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
4
Pubs (1 yr)
13
P/LP submissions
0%
P/LP missense
0.73
LOEUF
DN
Mechanism· predicted
Clinical Summary— URI1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 unique Pathogenic / Likely Pathogenic· 90 VUS of 134 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.73LOEUF
pLI 0.000
Z-score 2.67
OE 0.46 (0.30–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.13Z-score
OE missense 1.02 (0.93–1.13)
293 obs / 286.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.46 (0.30–0.73)
0≤0.351.4
Missense OE1.02 (0.93–1.13)
0≤0.61.4
Synonymous OE1.08
0≤1.21.6
LoF obs/exp: 13 / 28.4Missense obs/exp: 293 / 286.7Syn Z: -0.61
DN
0.7132th %ile
GOF
0.5071th %ile
LOF
0.3261th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

134 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic3
VUS90
Likely Benign10
Benign3
10
Pathogenic
3
Likely Pathogenic
90
VUS
10
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
3
0
3
VUS
0
85
5
0
90
Likely Benign
0
2
0
8
10
Benign
0
2
0
1
3
Total089189116

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

URI1 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Evaluation of the role of unconventional prefoldin RPB5 interactor (URI1) in hepatitis B virus infection.
Štaflová K et al.·Virol J
2025Open Access
Triptolide decreases rheumatoid arthritis fibroblast-like synoviocyte proliferation, invasion, inflammation and presents a therapeutic effect in collagen-induced arthritis rats via inactivating lncRNA RP11-83J16.1 mediated URI1 and β-catenin signaling.
Piao X et al.·Int Immunopharmacol
2021
URI1 suppresses irradiation-induced reactive oxygen species (ROS) by activating autophagy in hepatocellular carcinoma cells.
Xu Y et al.·Int J Biol Sci
2021Open Access
HBx and c-MYC Cooperate to Induce URI1 Expression in HBV-Related Hepatocellular Carcinoma.
Tsuchiya H et al.·Int J Mol Sci
2019Open Access
HOTAIR promotes myocardial fibrosis through regulating URI1 expression via Wnt pathway.
Pan SC et al.·Eur Rev Med Pharmacol Sci
2018
Top 5 resultsSearch Europe PMC ↗

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