URI1

Chr 19

URI1 prefoldin like chaperone

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

NCBI Gene: 8725 ENSG00000105176 UniProt: O94763 OMIM: 603494

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. [provided by RefSeq, Nov 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.73

LOEUF

Mechanism· predicted