Overview

Location [1]
8q22.3
Pathway
Protein degradation/ubiquitination
Protein [2]
E3 ubiquitin-protein ligase UBR5
Synonyms [1]
DD5, EDD, EDD1, HYD

Ubiquitin protein ligase E3 component n-recognition 5 (UBR5) is a gene that encodes a progestin-induced protein that belongs to the HECT family. The protein functions as an E3 ubiquitin ligase and tags substrate proteins for ubiquitination. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

UBR5 is altered in 7.42% of all cancers with breast invasive ductal carcinoma, mixed lobular and ductal breast carcinoma, breast invasive lobular carcinoma, breast neoplasm, and mantle cell lymphoma having the greatest prevalence of alterations [3].

UBR5 GENIE Cases - Top Diseases

The most common alterations in UBR5 are UBR5 Amplification (7.26%), UBR5 Mutation (1.62%), UBR5 X2729_splice (0.14%), UBR5 Q903* (0.09%), and UBR5 X2701_splice (0.08%) [3].

UBR5 GENIE Cases - Top Alterations

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.