Overview

Location [1]
18q11.2
Protein [2]
E3 ubiquitin-protein ligase MIB1
Synonyms [1]
LVNC7, ZZZ6, ZZANK2, DIP1, MIB, DIP-1

Mindbomb E3 ubiquitin protein ligase 1 (MIB1) is a gene that encodes a protein that functions as an E3 ubiquitin ligase. The protein positively regulates NOTCH signaling via ubiquitination of the Notch receptors. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as breast cancer, lung cancer, and skin cancer.

MIB1 is altered in 1.55% of all cancers with colon adenocarcinoma, lung adenocarcinoma, pancreatic adenocarcinoma, astrocytoma, and cholangiocarcinoma having the greatest prevalence of alterations [3].

MIB1 GENIE Cases - Top Diseases

The most common alterations in MIB1 are MIB1 Mutation (1.39%), MIB1 A511T (0.17%), MIB1 R126* (0.17%), MIB1 C757R (0.08%), and MIB1 C792* (0.08%) [3].

MIB1 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.