Aliases for KEAP1 Gene
External Ids for KEAP1 Gene
Previous GeneCards Identifiers for KEAP1 Gene
This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for KEAP1 Gene
KEAP1 (Kelch Like ECH Associated Protein 1) is a Protein Coding gene. Diseases associated with KEAP1 include Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors and Lung Papillary Adenocarcinoma. Among its related pathways are Translational Control and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include transcription factor binding. An important paralog of this gene is KLHL20.
UniProtKB/Swiss-Prot for KEAP1 Gene
Acts as a substrate adapter protein for the E3 ubiquitin ligase complex formed by CUL3 and RBX1 and targets NFE2L2/NRF2 for ubiquitination and degradation by the proteasome, thus resulting in the suppression of its transcriptional activity and the repression of antioxidant response element-mediated detoxifying enzyme gene expression. Retains NFE2L2/NRF2 and may also retain BPTF in the cytosol. Targets PGAM5 for ubiquitination and degradation by the proteasome.