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 su... See more...

Aliases for KEAP1 Gene

Aliases for KEAP1 Gene

  • Kelch Like ECH Associated Protein 1 2 3 5
  • KLHL19 2 3 4
  • INrf2 2 3 4
  • Kelch-Like ECH-Associated Protein 1 3 4
  • Kelch-Like Family Member 19 2 3
  • Cytosolic Inhibitor Of Nrf2 3 4
  • Kelch-Like Protein 19 3 4
  • KIAA0132 2 4
  • KEAP1 Delta C 3
  • MGC10630 2
  • MGC20887 2
  • MGC1114 2
  • MGC4407 2
  • MGC9454 2
  • KEAP1 5
  • INRF2 4

External Ids for KEAP1 Gene

Previous GeneCards Identifiers for KEAP1 Gene

  • GC19M010727
  • GC19M010819
  • GC19M010442
  • GC19M010457
  • GC19M010596
  • GC19M010176

Summaries for KEAP1 Gene

Entrez Gene Summary 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 Papillary Adenocarcinoma. Among its related pathways are Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is KLHL17.

UniProtKB/Swiss-Prot Summary for KEAP1 Gene

  • 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:15983046, PubMed:15601839). 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 (PubMed:15601839, PubMed:16006525). 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 (PubMed:19489739, PubMed:16006525, PubMed:17127771, PubMed:18251510, PubMed:29590092). 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 (PubMed:20452972). The BCR(KEAP1) complex also mediates ubiquitination of SQSTM1/p62, increasing SQSTM1/p62 sequestering activity and degradation (PubMed:28380357). The BCR(KEAP1) complex also targets BPTF and PGAM5 for ubiquitination and degradation by the proteasome (PubMed:15379550, PubMed:17046835).

Gene Wiki entry for KEAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KEAP1 Gene

Genomics for KEAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KEAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J010501 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.1 1051 3 RNF2 SP1 HNRNPL GATAD2A ZBTB33 PRDM10 ZNF512 ZNF692 POLR2A RCOR2 KEAP1 ILF3 KRI1 RAVER1 DNMT1 FBXL12 LOC100419831 PPAN PRKCSH ZNF561
GH19J010118 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 6.6 +383.0 383012 3.9 SP1 CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 SIX5 LEF1 NFKBIZ EIF3G lnc-EIF3G-1 KRI1 ZNF266 PPAN ILF3 RAVER1 FBXL12 DNMT1 TIMM29
GH19J010411 Enhancer 1 FANTOM5 ENCODE 5.6 +91.2 91156 2.3 SP1 RELA TCF12 IKZF2 RCOR1 TRIM22 GABPA SOX6 PKNOX1 EED lnc-PDE4A-1 KEAP1 TYK2 S1PR5 ATG4D ICAM3 SHFL PDE4A CDC37 lnc-TIMM29-1
GH19J010478 Promoter/Enhancer 1.1 ENCODE CraniofacialAtlas 5.1 +24.2 24224 1.3 SP1 CTCF DDX20 PKNOX1 ZNF740 NRF1 MGA CBX3 POLR2A TFDP1 piR-54764-311 PDE4A KEAP1 lnc-PDE4A-2 CDC37 lnc-TIMM29-1
GH19J010889 Enhancer 1 Ensembl ENCODE dbSUPER 5 -388.0 -387961 3.4 PRDM10 PRDM1 ZIC2 ZNF600 ZNF341 SCRT2 SP2 ESR1 POLR2A SCRT1 SMARCA4 ILF3-DT KEAP1 CARM1 RF00017-2812 RF00017-2813 YIPF2 lnc-TIMM29-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KEAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KEAP1

Top Transcription factor binding sites by QIAGEN in the KEAP1 gene promoter:
  • AREB6
  • c-Myc
  • Egr-4
  • Max
  • Pax-4a

Genomic Locations for KEAP1 Gene

Genomic Locations for KEAP1 Gene
chr19:10,486,125-10,503,558
(GRCh38/hg38)
Size:
17,434 bases
Orientation:
Minus strand
chr19:10,596,796-10,614,417
(GRCh37/hg19)
Size:
17,622 bases
Orientation:
Minus strand

Genomic View for KEAP1 Gene

Genes around KEAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KEAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KEAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KEAP1 Gene

Proteins for KEAP1 Gene

  • Protein details for KEAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14145-KEAP1_HUMAN
    Recommended name:
    Kelch-like ECH-associated protein 1
    Protein Accession:
    Q14145
    Secondary Accessions:
    • B3KPD5
    • Q6LEP0
    • Q8WTX1
    • Q9BPY9

    Protein attributes for KEAP1 Gene

    Size:
    624 amino acids
    Molecular mass:
    69666 Da
    Quaternary structure:
    • Component of the BCR(KEAP1) E3 ubiquitin ligase complex, at least composed of 2 molecules of CUL3, 2 molecules of KEAP1, and RBX1 (PubMed:15572695, PubMed:15983046, PubMed:15601839, PubMed:17127771, PubMed:18251510, PubMed:24896564). Interacts with NFE2L2/NRF2; the interaction is direct (PubMed:15379550, PubMed:15601839, PubMed:16006525, PubMed:18387606, PubMed:16888629). Forms a ternary complex with NFE2L2/NRF2 and PGAM5 (PubMed:17046835). Interacts with (phosphorylated) SQSTM1/p62; the interaction is direct and inactivates the BCR(KEAP1) complex by sequestering it in inclusion bodies, promoting its degradation (PubMed:20495340, PubMed:20452972). Interacts with NFE2L1 (PubMed:16687406). Interacts with BPTF and PTMA (PubMed:15657435). Interacts with MAP1LC3B (PubMed:24089205). Interacts indirectly with ENC1 (PubMed:19424503). Interacts with SESN1 and SESN2 (PubMed:23274085). Interacts with HSP90AA1 and HSP90AB1 (PubMed:26517842).
    • (Microbial infection) Interacts with ebolavirus protein VP24; this interaction activates transcription factor NFE2L2/NRF2 by blocking its interaction with KEAP1.
    SequenceCaution:
    • Sequence=BAA09481.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KEAP1 Gene

neXtProt entry for KEAP1 Gene

Post-translational modifications for KEAP1 Gene

  • Non-enzymatic covalent modifications of reactive cysteines by electrophile metabolites inactivate the BCR(KEAP1) complex (PubMed:17127771, PubMed:18251510, PubMed:29590092, PubMed:30323285). Accumulation of fumarate promotes the formation of cysteine S-succination (S-(2-succinyl)cysteine), leading to inactivate the BCR(KEAP1) complex and promote NFE2L2/NRF2 nuclear accumulation and activation (By similarity). Nitric oxide-dependent 8-Nitro-cGMP formation promotes cysteine guanylation (S-cGMP-cysteine), leading to NFE2L2/NRF2 nuclear accumulation and activation (By similarity). Itaconate, an anti-inflammatory metabolite generated in response to lipopolysaccharide, alkylates cysteines, activating NFE2L2/NRF2 (PubMed:29590092). Methylglyoxal, a reactive metabolite that accumulates when the glycolytic enzyme PGK1 is inhibited, promotes formation of a methylimidazole cross-link between proximal Cys-151 and Arg-135 on another KEAP1 molecule, resulting in an inactive dimer that inactivates the BCR(KEAP1) complex (PubMed:30323285).
  • Degraded via a proteasomal-independent process during selective autophagy: interaction with phosphorylated SQSTM1/p62 sequesters KEAP1 in inclusion bodies, leading to its degradation.
  • Auto-ubiquitinated by the BCR(KEAP1) complex (PubMed:15572695, PubMed:15983046). Quinone-induced oxidative stress, but not sulforaphane, increases its ubiquitination (PubMed:15572695, PubMed:15983046). Ubiquitination and subsequent degradation is most pronounced following prolonged exposure of cells to oxidative stress, particularly in glutathione-deficient cells that are highly susceptible to oxidative stress (PubMed:15572695, PubMed:15983046).
  • Ubiquitination at Lys61, Lys84, Lys108, Lys287, Lys312, and Lys615
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for KEAP1

No data available for DME Specific Peptides for KEAP1 Gene

Domains & Families for KEAP1 Gene

Gene Families for KEAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for KEAP1 Gene

InterPro:
Blocks:
  • BTB/POZ domain
  • BTB/Kelch-associated
  • Kelch repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for KEAP1 Gene

GenScript: Design optimal peptide antigens:
  • Kelch-like protein 19 (KEAP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14145

UniProtKB/Swiss-Prot:

KEAP1_HUMAN :
  • KEAP1 contains reactive cysteine residues that act as sensors for endogenously produced and exogenously encountered small molecules, which react with sulfhydryl groups and modify the cysteine sensors, leading to impair ability of the BCR(KEAP1) complex to ubiquitinate target proteins.
  • Belongs to the KEAP1 family.
Domain:
  • KEAP1 contains reactive cysteine residues that act as sensors for endogenously produced and exogenously encountered small molecules, which react with sulfhydryl groups and modify the cysteine sensors, leading to impair ability of the BCR(KEAP1) complex to ubiquitinate target proteins.
  • The Kelch repeats mediate interaction with NFE2L2/NRF2, BPTF and PGAM5.
Family:
  • Belongs to the KEAP1 family.
genes like me logo Genes that share domains with KEAP1: view

Function for KEAP1 Gene

Molecular function for KEAP1 Gene

UniProtKB/Swiss-Prot 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:15983046, PubMed:15601839). 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 (PubMed:15601839, PubMed:16006525). 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 (PubMed:19489739, PubMed:16006525, PubMed:17127771, PubMed:18251510, PubMed:29590092). 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 (PubMed:20452972). The BCR(KEAP1) complex also mediates ubiquitination of SQSTM1/p62, increasing SQSTM1/p62 sequestering activity and degradation (PubMed:28380357). The BCR(KEAP1) complex also targets BPTF and PGAM5 for ubiquitination and degradation by the proteasome (PubMed:15379550, PubMed:17046835).
UniProtKB/Swiss-Prot EnzymeRegulation:
Ubiquitin ligase activity of the BCR(KEAP1) complex is inhibited by oxidative stress and electrophile metabolites such as sulforaphane (PubMed:15983046, PubMed:17046835, PubMed:29590092, PubMed:30323285). Electrophile metabolites react with reactive cysteine residues in KEAP1 and trigger non-enzymatic covalent modifications of these cysteine residues, leading to inactivate the ubiquitin ligase activity of the BCR(KEAP1) complex (PubMed:19489739, PubMed:17127771, PubMed:18251510, PubMed:29590092, PubMed:30323285). Selective autophagy also inactivates the BCR(KEAP1) complex via interaction between KEAP1 and SQSTM1/p62, which sequesters the complex in inclusion bodies and promotes its degradation (PubMed:20495340, PubMed:20452972).

Phenotypes From GWAS Catalog for KEAP1 Gene

Gene Ontology (GO) - Molecular Function for KEAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 15601839
GO:0008134 transcription factor binding IEA,IPI 17015834
GO:0042802 identical protein binding IEA --
GO:0097718 disordered domain specific binding IEA --
genes like me logo Genes that share ontologies with KEAP1: view
genes like me logo Genes that share phenotypes with KEAP1: view

Human Phenotype Ontology for KEAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KEAP1

Clone Products

  • Addgene plasmids for KEAP1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KEAP1 Gene

Localization for KEAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KEAP1 Gene

Cytoplasm. Nucleus. Note=Mainly cytoplasmic (PubMed:15601839). In response to selective autophagy, relocalizes to inclusion bodies following interaction with SQSTM1/p62 (PubMed:20452972). {ECO:0000269 PubMed:15601839, ECO:0000269 PubMed:20452972}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KEAP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
endoplasmic reticulum 4
extracellular 3
mitochondrion 3
plasma membrane 2
peroxisome 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Centriolar satellite (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KEAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 15601839
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IDA,TAS 17015834
genes like me logo Genes that share ontologies with KEAP1: view

Pathways & Interactions for KEAP1 Gene

genes like me logo Genes that share pathways with KEAP1: view

Pathways by source for KEAP1 Gene

3 Qiagen pathways for KEAP1 Gene
  • Epithelial Adherens Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Sertoli-Sertoli Cell Junction Dynamics
1 Cell Signaling Technology pathway for KEAP1 Gene

UniProtKB/Swiss-Prot Q14145-KEAP1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for KEAP1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for KEAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA,IDA 15601839
GO:0010506 regulation of autophagy IDA 20452972
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with KEAP1: view

Drugs & Compounds for KEAP1 Gene

(41) Drugs for KEAP1 Gene - From: DrugBank, ClinicalTrials, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dimethyl fumarate Approved, Investigational Pharma Target, binder 102
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2588
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist Anti-inflammatory glucocorticoid 2886
Dexamethasone acetate Approved, Investigational, Vet_approved Pharma 2886
Hydroxocobalamin Approved Pharma 437

(6) Additional Compounds for KEAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) ApexBio Compounds for KEAP1 Gene

Compound Action Cas Number
Curcumin Tyrosinase inhibitor 458-37-7
Dimethyl Fumarate 624-49-7
Omaveloxolone (RTA-408) 1474034-05-3
genes like me logo Genes that share compounds with KEAP1: view

Drug Products

Transcripts for KEAP1 Gene

mRNA/cDNA for KEAP1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KEAP1

Clone Products

  • Addgene plasmids for KEAP1

Alternative Splicing Database (ASD) splice patterns (SP) for KEAP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5:
SP6:
SP7: - - -
SP8: -
SP9:

Relevant External Links for KEAP1 Gene

GeneLoc Exon Structure for
KEAP1

Expression for KEAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KEAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lymph (Hematopoietic System)

mRNA differential expression in normal tissues according to GTEx for KEAP1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.9).

Protein differential expression in normal tissues from HIPED for KEAP1 Gene

This gene is overexpressed in Breast (56.9) and Plasma (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KEAP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KEAP1

SOURCE GeneReport for Unigene cluster for KEAP1 Gene:

Hs.465870

mRNA Expression by UniProt/SwissProt for KEAP1 Gene:

Q14145-KEAP1_HUMAN
Tissue specificity: Broadly expressed, with highest levels in skeletal muscle.

Evidence on tissue expression from TISSUES for KEAP1 Gene

  • Nervous system(5)
  • Skin(4.7)
  • Bone marrow(4.6)
  • Liver(4.1)
  • Lung(3.9)
  • Muscle(3.5)
  • Kidney(3.4)
  • Pancreas(3.2)
  • Intestine(3.2)
  • Eye(3.2)
  • Heart(3.2)
  • Adrenal gland(3.1)
  • Thyroid gland(3)
  • Blood(2.8)
  • Stomach(2.7)
  • Spleen(2.6)
  • Lymph node(2.6)
  • Gall bladder(2.5)
genes like me logo Genes that share expression patterns with KEAP1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KEAP1 Gene

Orthologs for KEAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KEAP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KEAP1 30 31
  • 99.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KEAP1 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia KEAP1 30 31
  • 91.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KEAP1 30 31
  • 90.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Keap1 30
  • 86.56 (n)
Mouse
(Mus musculus)
Mammalia Keap1 30 17 31
  • 86.43 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KEAP1 31
  • 85 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KEAP1 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia keap1 30
  • 74.04 (n)
Str.5652 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.18653 30
Zebrafish
(Danio rerio)
Actinopterygii keap1b 30 31
  • 76.48 (n)
OneToOne
keap1 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003645 30
  • 58.68 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Keap1 30 31 32
  • 56.64 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4993 30
Species where no ortholog for KEAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KEAP1 Gene

ENSEMBL:
Gene Tree for KEAP1 (if available)
TreeFam:
Gene Tree for KEAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KEAP1: view image

Paralogs for KEAP1 Gene

(32) SIMAP similar genes for KEAP1 Gene using alignment to 7 proteins:

  • KEAP1_HUMAN
  • K7EJ49_HUMAN
  • K7EJD8_HUMAN
  • K7EMY1_HUMAN
  • K7EPZ3_HUMAN
  • K7EQX2_HUMAN
  • K7ESE0_HUMAN
genes like me logo Genes that share paralogs with KEAP1: view

Variants for KEAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KEAP1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
694079 Uncertain Significance: Squamous cell carcinoma of the head and neck 10,492,202(-) G/A MISSENSE_VARIANT
716698 Likely Benign: not provided 10,489,655(-) G/A SYNONYMOUS_VARIANT
720212 Benign: not provided 10,499,944(-) C/T SYNONYMOUS_VARIANT
722217 Likely Benign: not provided 10,491,786(-) C/T SYNONYMOUS_VARIANT
725487 Likely Benign: not provided 10,491,691(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KEAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KEAP1 Gene

Variant ID Type Subtype PubMed ID
nsv833744 CNV loss 17160897

Variation tolerance for KEAP1 Gene

Residual Variation Intolerance Score: 8.82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KEAP1 Gene

Human Gene Mutation Database (HGMD)
KEAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KEAP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KEAP1 Gene

Disorders for KEAP1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for KEAP1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
goiter, multinodular 1, with or without sertoli-leydig cell tumors
  • mng1
papillary adenocarcinoma
  • infiltrating and papillary adenocarcinoma
paget's disease of bone
  • familial paget's disease of bone
lung squamous cell carcinoma
  • epidermoid cell carcinoma of the lung
fumarase deficiency
  • fmrd
- elite association - COSMIC cancer census association via MalaCards
Search KEAP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KEAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KEAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KEAP1 Gene

Publications for KEAP1 Gene

  1. Mutations in Keap1 are a potential prognostic factor in resected non-small cell lung cancer. (PMID: 20213688) Takahashi T … Wada H (Journal of surgical oncology 2010) 3 23 41
  2. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PMID: 19424503) Wang XJ … Zhang DD (PloS one 2009) 3 4 23
  3. Cul3-mediated Nrf2 ubiquitination and antioxidant response element (ARE) activation are dependent on the partial molar volume at position 151 of Keap1. (PMID: 19489739) Eggler AL … Mesecar AD (The Biochemical journal 2009) 3 4 23
  4. PGAM5 tethers a ternary complex containing Keap1 and Nrf2 to mitochondria. (PMID: 18387606) Lo SC … Hannink M (Experimental cell research 2008) 3 4 23
  5. Covalent modification at Cys151 dissociates the electrophile sensor Keap1 from the ubiquitin ligase CUL3. (PMID: 18251510) Rachakonda G … Freeman ML (Chemical research in toxicology 2008) 3 4 23

Products for KEAP1 Gene

  • Addgene plasmids for KEAP1

Sources for KEAP1 Gene