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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes FDA approved drug targets Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
p13.2
Chromosome location (bp)
10486125 - 10503558
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that regulates the response to oxidative stress by targeting NFE2L2/NRF2 for ubiquitination 1,2,3,4,5,6. KEAP1 acts as a key sensor of oxidative and electrophilic stress: in normal conditions, the BCR(KEAP1) complex mediates ubiquitination and degradation of NFE2L2/NRF2, a transcription factor regulating expression of many cytoprotective genes 7,8. In response to oxidative stress, different electrophile metabolites trigger non-enzymatic covalent modifications of highly reactive cysteine residues in KEAP1, leading to inactivate the ubiquitin ligase activity of the BCR(KEAP1) complex, promoting NFE2L2/NRF2 nuclear accumulation and expression of phase II detoxifying enzymes 9,10,11,12,13. In response to selective autophagy, KEAP1 is sequestered in inclusion bodies following its interaction with SQSTM1/p62, leading to inactivation of the BCR(KEAP1) complex and activation of NFE2L2/NRF2 14. The BCR(KEAP1) complex also mediates ubiquitination of SQSTM1/p62, increasing SQSTM1/p62 sequestering activity and degradation 15. The BCR(KEAP1) complex also targets BPTF and PGAM5 for ubiquitination and degradation by the proteasome 16,17....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Host-virus interaction, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q14145 [Direct mapping] Kelch-like ECH-associated protein 1
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A0A024R7C0 [Target identity:100%; Query identity:100%] Kelch-like ECH-associated protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001701[in utero embryonic development] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005884[actin filament] GO:0006355[regulation of DNA-templated transcription] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0008134[transcription factor binding] GO:0010506[regulation of autophagy] GO:0016234[inclusion body] GO:0016567[protein ubiquitination] GO:0030496[midbody] GO:0031463[Cul3-RING ubiquitin ligase complex] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032991[protein-containing complex] GO:0034451[centriolar satellite] GO:0034599[cellular response to oxidative stress] GO:0042802[identical protein binding] GO:0042994[cytoplasmic sequestering of transcription factor] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0045604[regulation of epidermal cell differentiation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0071353[cellular response to interleukin-4] GO:0097718[disordered domain specific binding]
Q14145 [Direct mapping] Kelch-like ECH-associated protein 1
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A0A024R7C0 [Target identity:100%; Query identity:100%] Kelch-like ECH-associated protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0008134[transcription factor binding] GO:0010506[regulation of autophagy] GO:0016234[inclusion body] GO:0016567[protein ubiquitination] GO:0030496[midbody] GO:0031463[Cul3-RING ubiquitin ligase complex] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0034451[centriolar satellite] GO:0034599[cellular response to oxidative stress] GO:0042994[cytoplasmic sequestering of transcription factor] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding]
K7EJ49 [Direct mapping] Kelch-like ECH-associated protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Protein evidence (Ezkurdia et al 2014)
K7EJD8 [Direct mapping] Kelch-like ECH-associated protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Protein evidence (Ezkurdia et al 2014)
K7ESE0 [Direct mapping] Kelch-like ECH-associated protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Protein evidence (Ezkurdia et al 2014)
K7EQX2 [Direct mapping] Kelch-like ECH-associated protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
