URI1: Unconventional Prefoldin RPB5 Interactor 1
A comprehensive biomedical overview of URI1 gene, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | URI1 |
|---|---|
| Full Name | Unconventional Prefoldin RPB5 Interactor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 8725 ncbi.nlm.nih.gov/gene/8725 |
| Ensembl ID | ENSG00000105329 |
| UniProt ID | O94763 |
| OMIM ID | 605493 |
| HGNC ID | 12573 |
| Aliases | NNX3, RMP, URI, PPP1R19 |
Description
URI1 (Unconventional Prefoldin RPB5 Interactor 1) is a protein-coding gene located on chromosome 19q13.33. It encodes a prefoldin-like protein that interacts with RNA polymerase II subunit RPB5 and functions as a transcriptional regulator. URI1 is involved in cellular stress responses, DNA repair, and cell cycle control. Alterations in URI1 expression and mutations have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | URI1 overexpression promotes cell proliferation and chemoresistance | PMID: 23251475 |
| Hepatocellular carcinoma | URI1 amplification drives tumor growth via mTOR signaling | PMID: 21930774 |
| Prostate cancer | URI1 upregulation correlates with poor prognosis and androgen receptor activity | PMID: 25944712 |
| Neurodevelopmental disorder | URI1 missense variants associated with intellectual disability | ClinVar: RCV000415827 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Liver | 10.8 | Medium |
| Kidney | 8.5 | Medium |
| Brain | 4.3 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 7.2 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; reported in ClinVar as uncertain significance |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Associated with neurodevelopmental disorder |
| c.1234_1235insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in URI1 are predicted to cause loss of function, potentially impairing transcriptional regulation and cellular stress responses.
Gain of Function (GOF)
Amplification and overexpression of URI1 in cancers suggest a gain-of-function role, promoting cell proliferation and survival.
Dominant Negative (DN)
No dominant-negative mutations have been reported for URI1.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • protein folding chaperone |
| • RNA polymerase II binding | • nucleus |
| • cytoplasm | • prefoldin complex |
Pathways
• mTOR signaling
• RNA polymerase II transcription
• DNA repair
Protein Summary
URI1 encodes a 536-amino acid protein (UniProt O94763) that belongs to the prefoldin family. It contains a prefoldin domain and interacts with RPB5, a subunit of RNA polymerase II. The protein shuttles between nucleus and cytoplasm, regulating transcription, cell cycle, and stress responses. URI1 is phosphorylated in response to DNA damage and modulates the activity of the PP1 phosphatase complex.
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