Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9817
Gene name Gene Name - the full gene name approved by the HGNC.
Kelch like ECH associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KEAP1
Synonyms (NCBI Gene) Gene synonyms aliases
INrf2, KLHL19
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez 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 follow
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006704 hsa-miR-200a-3p Luciferase reporter assay, qRT-PCR, Western blot 21914820
MIRT006704 hsa-miR-200a-3p Luciferase reporter assay, qRT-PCR, Western 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606016 23177 ENSG00000079999
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carcinoma Of The Head And Neck squamous cell carcinoma of the head and neck N/A N/A ClinVar
Hepatocellular Carcinoma Hepatocellular carcinoma 31903165, 35380342 CBGDA
Hypothyroidism Hypothyroidism N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease (MTAG) N/A N/A GWAS
Associations from Text Mining Disease 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