UBR5
Overview
UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5), also known as EDD1, encodes a HECT-domain E3 ubiquitin ligase involved in DNA damage response, cell cycle regulation, and protein stability. It has been identified as a recurrently mutated gene in breast cancer, with evidence supporting a role in TNBC.
Alterations observed in the corpus
- Mutations in 6.2% (4/65) of triple-negative breast cancers in a WGS cohort PMID:22495314
- UBR5 (ubiquitin-ligase) mutations observed as recurrent alterations in MCL (mantle cell lymphoma) per Meissner et al., 2013; confirmed in this WES cohort PMID:24145436
Cancer types (linked)
- Breast cancer (TNBC): recurrent somatic mutations in 6.2% of cases PMID:22495314
Co-occurrence and mutual exclusivity
- No co-occurrence or mutual exclusivity data reported in the corpus.
Therapeutic relevance
- No direct therapeutic associations reported in the corpus.
Open questions
- Functional impact of UBR5 mutations in TNBC (loss-of-function vs. gain-of-function) is not characterized in the corpus.
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:24145436
This page was processed by crosslinker on 2026-05-09.