Gene Gene information from NCBI Gene database.
Entrez ID 9817
Gene name Kelch like ECH associated protein 1
Gene symbol KEAP1
Synonyms (NCBI Gene)
INrf2KLHL19
Chromosome 19
Chromosome location 19p13.2
Summary 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 follow
miRNA miRNA information provided by mirtarbase database.
93
miRTarBase ID miRNA Experiments Reference
MIRT006704 hsa-miR-200a-3p Luciferase reporter assayqRT-PCRWestern blot 21914820
MIRT006704 hsa-miR-200a-3p Luciferase reporter assayqRT-PCRWestern blot 21914820
MIRT025794 hsa-miR-7-5p Sequencing 20371350
MIRT029595 hsa-miR-26b-5p Microarray 19088304
MIRT040649 hsa-miR-92b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17015834
GO:0001701 Process In utero embryonic development IEA
GO:0005515 Function Protein binding IPI 15601839, 16189514, 16888629, 17015834, 17510365, 18757741, 19424503, 19615732, 19706542, 20173742, 20452972, 20562859, 20600852, 21044950, 21145461, 21516116, 21903422, 21988832, 23274085, 24089205, 25416956, 25684205, 25910212, 26517842, 29792731, 30190310, 31169361, 31262713, 315
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606016 23177 ENSG00000079999
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14145
Protein name Kelch-like ECH-associated protein 1 (Cytosolic inhibitor of Nrf2) (INrf2) (Kelch-like protein 19)
Protein function 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 (PubMed:14585973, PubMed:15379550, PubMed:15572695, PubMed:15601839, PubM
PDB 1U6D , 1ZGK , 2FLU , 3VNG , 3VNH , 3ZGC , 3ZGD , 4CXI , 4CXJ , 4CXT , 4IFJ , 4IFL , 4IFN , 4IN4 , 4IQK , 4L7B , 4L7C , 4L7D , 4N1B , 4XMB , 5DAD , 5DAF , 5F72 , 5GIT , 5NLB , 5WFL , 5WFV , 5WG1 , 5WHL , 5WHO , 5WIY , 5X54 , 6FFM , 6FMP , 6FMQ , 6HWS , 6LRZ , 6ROG , 6SP1 , 6SP4 , 6T7V , 6T7Z , 6TG8 , 6TYM , 6TYP , 6UF0 , 6V6Z , 6W66 , 6W67 , 6W68 , 6W69
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 67 179 BTB/POZ domain Domain
PF07707 BACK 184 286 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 318 359 Kelch motif Repeat
PF01344 Kelch_1 361 410 Kelch motif Repeat
PF01344 Kelch_1 412 457 Kelch motif Repeat
PF01344 Kelch_1 459 504 Kelch motif Repeat
PF01344 Kelch_1 506 551 Kelch motif Repeat
PF01344 Kelch_1 553 598 Kelch motif Repeat
Tissue specificity TISSUE SPECIFICITY: Broadly expressed, with highest levels in skeletal muscle. {ECO:0000269|PubMed:15379550}.
Sequence
Sequence length 624
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis
Parkinson disease
Pathways in cancer
Chemical carcinogenesis - reactive oxygen species
Hepatocellular carcinoma
Fluid shear stress and atherosclerosis
  Ub-specific processing proteases
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer - rs2144585865, rs2144579053, rs2144585858 RCV005920593
RCV005920617
RCV005922430
Squamous cell carcinoma of the head and neck - rs1599484704 RCV004813259
Uterine corpus endometrial carcinoma -; Likely benign rs2144579063, rs530931137 RCV005920628
RCV005905854
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 35910848, 36913799
Adenocarcinoma Associate 31159323, 31988001, 38184997
Adenocarcinoma of Lung Associate 25878335, 26069186, 28336552, 30075702, 32327612, 32445554, 32866624, 33229301, 33264619, 33299528, 34275893, 34328274, 34450259, 34617407, 34740862
View all (6 more)
Adenocarcinoma Papillary Associate 21248763
Adenoma Pleomorphic Associate 25928388
Alzheimer Disease Associate 24450635
Anxiety Associate 35917404
Arthritis Rheumatoid Associate 36814154
Brain Diseases Associate 34952628
Breast Neoplasms Associate 21489257, 21926171, 23249627, 25827424, 25976679, 26657794, 27323010, 28416489, 30803422, 39264897