Overview

Location [1]
19p13.2
Protein [2]
Kelch-like ECH-associated protein 1
Synonyms [1]
KLHL19, INrf2

Kelch-like ECH-associated protein 1 (KEAP1) is a gene that encodes a protein that functions in the transportation of NF-E2-related factor 2 to the nucleus of a cell. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, lung cancer, and stomach cancer.

KEAP1 is altered in 3.08% of all cancers with lung adenocarcinoma, squamous cell lung carcinoma, non-small cell lung carcinoma, cancer of unknown primary, and colon adenocarcinoma having the greatest prevalence of alterations [3].

KEAP1 GENIE Cases - Top Diseases

The most common alterations in KEAP1 are KEAP1 Mutation (3.23%), KEAP1 Amplification (0.20%), KEAP1 Loss (0.05%), KEAP1 R362Q (0.04%), and KEAP1 R320L (0.03%) [3].

KEAP1 GENIE Cases - Top Alterations

Significance of KEAP1 in Diseases

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Squamous Cell Lung Carcinoma +

Bladder Carcinoma +

Ovarian Carcinoma +

Glioblastoma +

Colorectal Carcinoma +

Melanoma +

Pancreatic Carcinoma +

Breast Carcinoma +

Sarcoma +

Anaplastic Astrocytoma +

Head And Neck Carcinoma +

Lymphoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

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 6. 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.