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KEAP1 Gene

protein-coding   GIFtS: 66
GCID: GC19M010596

Kelch-Like ECH-Associated Protein 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kelch-Like ECH-Associated Protein 11 2     INrf22 3
Kelch-Like Family Member 191 2     KLHL192 3
Cytosolic Inhibitor Of Nrf22 3     KIAA01323 5
Kelch-Like Protein 192 3     INRF23

External Ids:    HGNC: 231771   Entrez Gene: 98172   Ensembl: ENSG000000799997   OMIM: 6060165   UniProtKB: Q141453   

Export aliases for KEAP1 gene to outside databases

Previous GC identifers: GC19M010727 GC19M010819 GC19M010442 GC19M010457 GC19M010176


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 diabetic cataract, and papillary adenocarcinoma. An important paralog of this gene is KLHL17.

UniProtKB/Swiss-Prot: KEAP1_HUMAN, Q14145
Function: 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

Gene Wiki entry for KEAP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KEAP1 gene promoter:
         Max   AREB6   Pax-4a   c-Myc   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): KEAP1 promoter sequence
   Search Chromatin IP Primers for KEAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KEAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

KEAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KEAP1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M010596:  view genomic region     (about GC identifiers)

Start:
10,596,796 bp from pter      End:
10,614,417 bp from pter
Size:
17,622 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KEAP1_HUMAN, Q14145 (See protein sequence)
Recommended Name: Kelch-like ECH-associated protein 1  
Size: 624 amino acids; 69666 Da
Subunit: Homodimer. Forms a ternary complex with NFE2L2 and PGAM5. Interacts with the N-terminal regulatory domain
of NFE2L2/NRF2. Interacts with BPTF and PTMA. Interacts with CUL3. Part of a complex that contains KEAP1, CUL3
and RBX1. Interacts with NFE2L1 and MAP1LC3B. Interacts indirectly with ENC1
Sequence caution: Sequence=BAA09481.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for KEAP1 (see all 11):
1U6D (3D)        1ZGK (3D)        2FLU (3D)        3VNG (3D)        3VNH (3D)        3ZGC (3D)    
Secondary accessions: B3KPD5 Q6LEP0 Q8WTX1 Q9BPY9

Explore the universe of human proteins at neXtProt for KEAP1: NX_Q14145

Explore proteomics data for KEAP1 at MOPED

Post-translational modifications: 

  • Ubiquitinated by the E3 ubiquitin ligase complex formed by CUL3 and RBX1 and is subject to proteasomal-independent
    degradation. Quinone-induced oxidative stress, but not sulforaphane, increases its ubiquitination. 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 stress1
  • Ubiquitination2 at Lys61, Lys84, Lys108, Lys287, Lys312, Lys615
  • Modification sites at PhosphoSitePlus

  • See KEAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_036421.2  NP_987096.1  

    ENSEMBL proteins: 
     ENSP00000171111   ENSP00000468014   ENSP00000377245   ENSP00000467601   ENSP00000466704  
     ENSP00000468671   ENSP00000465126   ENSP00000465024  
    Reactome Protein details: Q14145

    KEAP1 Human Recombinant Protein Products:

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    OriGene Purified Proteins for KEAP1
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    Novus Biologicals KEAP1 Protein
    Novus Biologicals KEAP1 Lysates
    Sino Biological Recombinant Protein for KEAP1
    Sino Biological Cell Lysate for KEAP1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KEAP1

    KEAP1 Antibody Products:

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    Novus Biologicals KEAP1 Antibodies
    Search for Antibodies for KEAP1 at Abcam
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    ThermoFisher Antibody for KEAP1
    LSBio Antibodies in human, mouse, rat for KEAP1

    KEAP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for KEAP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KEAP1
    Cloud-Clone Corp. CLIAs for KEAP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    Selected InterPro protein domains (see all 7):
     IPR017096 Kelch-like_gigaxonin-typ
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR015916 Gal_Oxidase_b-propeller

    Graphical View of Domain Structure for InterPro Entry Q14145

    ProtoNet protein and cluster: Q14145

    3 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB006651 Kelch repeat signature
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KEAP1_HUMAN, Q14145
    Domain: The Kelch repeats mediate interaction with NF2L2/NRF2, BPTF and PGAM5
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    KEAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KEAP1_HUMAN, Q14145
    Function: 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
    Enzyme regulation: Ubiquitination and subsequent degradation of PGAM5 is inhibited by oxidative stress and
    sulforaphane. Sulforaphane also inhibits ubiquitination of NFE2L2/NRF2

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16888629
         
    KEAP1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for KEAP1:
     Decreased POU5F1-GFP protein e  Elongated cells  Increased cell death HMECs cel  Synthetic lethal with c-Myc af 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Keap1):
     digestive/alimentary  growth/size/body  homeostasis/metabolism  integument  mortality/aging 
     respiratory system 

    KEAP1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KEAP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KEAP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KEAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KEAP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target KEAP1:
    hsa-mir-7-5p (MIRT025794), hsa-mir-200a-3p (MIRT006704), hsa-mir-92b-3p (MIRT040649), hsa-mir-26b-5p (MIRT029595)

    Block miRNA regulation of human, mouse, rat KEAP1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate KEAP1:
    hsa-miR-141 hsa-miR-2116 hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidKEAP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KEAP1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): KEAP1 (NM_012289)
    Sino Biological Human cDNA Clone for KEAP1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KEAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KEAP1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KEAP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KEAP1_HUMAN, Q14145: Cytoplasm. Nucleus. Note=Shuttles between cytoplasm and nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    cytosol3
    endoplasmic reticulum2
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005813centrosome ----

    KEAP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KEAP1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    3PAK Pathway
    Epithelial Adherens Junctions0.36
    4Translational Control
    Translational Control
    5Protein Stability
    Protein Stability

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KEAP1
        Sertoli-Sertoli Cell Junction Dynamics
    Germ Cell-Sertoli Cell Junction Dynamics
    Epithelial Adherens Junctions

    2 Cell Signaling Technology (CST) Pathways for KEAP1
        Translational Control
    Protein Stability

    1 BioSystems Pathway for KEAP1
        Keap1-Nrf2 Pathway


    1 Reactome Pathway for KEAP1
        Antigen processing: Ubiquitination & Proteasome degradation


    1 Kegg Pathway  (Kegg details for KEAP1):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: KEAP1_HUMAN, Q14145
    Pathway: Protein modification; protein ubiquitination


    KEAP1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KEAP1: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KEAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KEAP1 (Q141451, 2, 3 ENSP000001711114) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFE2L2Q162361, 2, 3, ENSP000003802524EBI-751001,EBI-2007911 MINT-2844533 MINT-2844673 MINT-2879967 MINT-2844569 MINT-2844482 MINT-2844810 MINT-2844754 MINT-2844512 MINT-2844647 MINT-2879989 MINT-2844621 MINT-2844789 MINT-2844595 MINT-2844725 MINT-2844455 MINT-2844699 I2D: score=5 STRING: ENSP00000380252
    SQSTM1Q135011, 3, ENSP000003744554EBI-751001,EBI-307104 I2D: score=6 STRING: ENSP00000374455
    IKBKBO149201, 3, ENSP000003391514EBI-751001,EBI-81266 I2D: score=2 STRING: ENSP00000339151
    TSC22D4Q9Y3Q81, 3, ENSP000003001814EBI-751001,EBI-739485 I2D: score=2 STRING: ENSP00000300181
    RELAQ042061, 3, ENSP000003842734EBI-751001,EBI-73886 I2D: score=1 STRING: ENSP00000384273
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0010499proteasomal ubiquitin-independent protein catabolic process IDA15983046
    GO:0016567protein ubiquitination IEA--

    KEAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KEAP1

    Selected Novoseek inferred chemical compound relationships for KEAP1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tbhq 88.3 3 19808700 (2), 16785233 (1)
    sulforaphane 85.6 17 16359182 (8), 15572695 (2), 16006525 (1), 16951197 (1) (see all 6)
    phenylarsine oxide 44.7 7 19808700 (5)
    diethylmaleate 44.2 2 15379550 (1)
    menadione 42.6 2 19608619 (2)
    haem 42.6 1 19608619 (1)
    leucine 38.7 1 15899855 (1)
    cysteine 38.7 12 17935299 (2), 17437032 (1), 18937164 (1), 16354693 (1) (see all 5)
    oxygen 35.7 1 15706085 (1)
    quinone 35.2 1 18329808 (1)



    KEAP1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KEAP1 gene (2 alternative transcripts): 
    NM_012289.3  NM_203500.1  

    Unigene Cluster for KEAP1:

    Kelch-like ECH-associated protein 1
    Hs.465870  [show with all ESTs]
    Unigene Representative Sequence: AK056204
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000171111(uc002mor.1) ENST00000592478 ENST00000393623(uc002mop.1 uc002moq.1)
    ENST00000590237 ENST00000590593 ENST00000588024 ENST00000585845 ENST00000592055
    ENST00000591419 ENST00000591039
    miRNA
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    hsa-miR-141 hsa-miR-2116 hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidKEAP1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat KEAP1
      QuantiFast Probe-based Assays in human, mouse, rat KEAP1

    Additional mRNA sequence: 

    AF361886.1 AK056204.1 BC002417.2 BC002930.1 BC003156.1 BC014118.2 BC015945.1 BC021957.1 
    D50922.2 

    13 DOTS entries:

    DT.113889  DT.100817516  DT.99994883  DT.99970911  DT.91822602  DT.100817525  DT.100038842  DT.100719004 
    DT.100817518  DT.100839455  DT.95253123  DT.97856132  DT.100648087 

    Selected AceView cDNA sequences (see all 459):

    CB990300 BM020292 BQ009293 BU190185 AI758993 BQ947972 BU684187 BU850232 
    BQ064058 BM788536 AL135103 BI117690 AI658905 BQ061708 BU633574 BQ221837 
    BQ649705 CD245309 BQ014705 AW003423 BX331766 CB118552 BM686821 AI799834 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KEAP1 (see all 9)    About this scheme

    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:                                                                                                                        


    ECgene alternative splicing isoforms for KEAP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KEAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATTTATTC
    KEAP1 Expression
    About this image

    KEAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KEAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.465870

    UniProtKB/Swiss-Prot: KEAP1_HUMAN, Q14145
    Tissue specificity: Broadly expressed, with highest levels in skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including KEAP1: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KEAP1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KEAP1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Keap11 , 5 kelch-like ECH-associated protein 11, 5 86.43(n)1
    94.07(a)1
      9 (7.74 cM)5
    508681  NM_001110307.11  NP_001103777.11 
     212297305 
    lizard
    (Anolis carolinensis)
    Reptilia KEAP16
    kelch-like ECH-associated protein 1
    86(a)
    1 ↔ 1
    2(28571441-28601562)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.186532 Xenopus laevis transcribed sequence with moderate similarity more 76.24(n)    BI442841.1 
    zebrafish
    (Danio rerio)
    Actinopterygii keap12 kelch-like ECH-associated protein 1 76.44(n)   321837  AB081315.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Keap11 , 3 actin binding3
    Keap11
    53(a)3
    56.64(n)1
    50.27(a)1
      89E113
    420621  NM_169744.21  NP_732202.21 


    ENSEMBL Gene Tree for KEAP1 (if available)
    TreeFam Gene Tree for KEAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KEAP1 gene
    KLHL172  KLHL182  KLHL202  KLHL52  KLHL122  KLHL282  KLHL42  KLHL32  
    KLHL82  KLHL102  KLHL12  KLHL22  
    Selected SIMAP similar genes for KEAP1 using alignment to 7 protein entries:     KEAP1_HUMAN (see all proteins) (see all similar genes):
    IVNS1ABP    KBTBD8    KLHL18    ZBTB14    KLHL28    KLHL20
    KLHL2    BCL6    KLHL17    KLHL7    ZBTB21    KLHL5
    KLHL8    ZBTB16    ZBTB45    KBTBD4    ZBTB38    KLHL12

    KEAP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KEAP1 (see all 451)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0321094
    A lung adenocarcinoma patient4--see VAR_0321092 G C mis40--------
    VAR_0321084
    A lung adenocarcinoma cell line4--see VAR_0321082 G C mis40--------
    VAR_0321044
    A lung adenocarcinoma patient4--see VAR_0321042 Q L mis40--------
    VAR_0360854
    A breast cancer sample4--see VAR_0360852 A V mis40--------
    VAR_0321024
    A lung adenocarcinoma patient4--see VAR_0321022 V F mis40--------
    VAR_0360844
    A breast cancer sample4--see VAR_0360842 C Y mis40--------
    rs601377381,2
    C--10180333(+) TTTTT-/T/TT  
            
    GAGAT
    2 -- int11NA 2
    rs129783541,2
    C,F--10194904(+) atcacC/Ttgagg 1 -- us2k13Minor allele frequency- T:0.33NA 6
    rs48041351,2
    C,F--10194926(+) AGACCG/AGCCTG 1 -- us2k18Minor allele frequency- A:0.40NA WA CSA EA 251
    rs1898748391,2
    --10596351(+) GAGTTA/GAGATC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for KEAP1 (10596796 - 10614417 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KEAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833744CNV Loss17160897
    nsv911042CNV Loss21882294
    dgv3727n71CNV Loss21882294
    dgv3725n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): KEAP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KEAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for KEAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606016    OMIM disorders: --

    Selected diseases for KEAP1 (see all 34):    
    About MalaCards
    diabetic cataract    papillary adenocarcinoma    pulmonary emphysema    gallbladder cancer
    endometrial adenocarcinoma    paget's disease of bone    cataract    wilms tumor
    malignant glioma    lateral sclerosis    amyotrophic lateral sclerosis    breast and colorectal cancer
    lung cancer    renal cell carcinoma    adenocarcinoma    ischemia
    atherosclerosis    hypoxia    kidney disease    retinitis


    KEAP1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for KEAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    somatic mutations 34.4 5 19321346 (2), 18316592 (1), 17020408 (1)
    cancer 33.9 10 15883370 (2), 17020408 (2), 16359182 (2), 19608619 (1) (see all 7)
    cancer lung 13.3 14 18316592 (2), 17020408 (2), 16507366 (1), 19646463 (1) (see all 6)
    inflammation 8.03 2 18440492 (1), 19520915 (1)
    tumors 0 12 20213688 (3), 17020408 (2), 18692501 (1), 19818716 (1) (see all 5)

    Genetic Association Database (GAD): KEAP1
    Human Genome Epidemiology (HuGE) Navigator: KEAP1 (5 documents)

    Export disorders for KEAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KEAP1 gene, integrated from 10 sources (see all 249):
    (articles sorted by number of sources associating them with KEAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dysfunctional KEAP1-NRF2 interaction in non-small-cell lung cancer. (PubMed id 17020408)1, 2, 9 Singh A....Biswal S. (PLoS Med. 2006)
    2. Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway. (PubMed id 15983046)1, 2, 9 Zhang D.D.... Hannink M. (J. Biol. Chem. 2005)
    3. Mutations in Keap1 are a potential prognostic factor in resected non-small cell lung cancer. (PubMed id 20213688)1, 4, 9 Takahashi T....Wada H. (J Surg Oncol 2010)
    4. Keap1 is a redox-regulated substrate adaptor protein for a Cul3- dependent ubiquitin ligase complex. (PubMed id 15572695)1, 2, 9 Zhang D.D.... Hannink M. (Mol. Cell. Biol. 2004)
    5. Structural basis for defects of Keap1 activity provoked by its point mutations in lung cancer. (PubMed id 16507366)1, 2, 9 Padmanabhan B.... Yamamoto M. (Mol. Cell 2006)
    6. Structure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signaling. (PubMed id 16888629)1, 2, 9 Lo S.-C.... Hannink M. (EMBO J. 2006)
    7. PGAM5 tethers a ternary complex containing Keap1 and Nrf2 to mitochondria. (PubMed id 18387606)1, 2, 9 Lo S.-C. and Hannink M. (Exp. Cell Res. 2008)
    8. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PubMed id 19424503)1, 2, 9 Wang X.J. and Zhang D.D. (PLoS ONE 2009)
    9. Fetal Alz-50 clone 1 interacts with the human orthologue of the Kelch-like Ech-associated protein. (PubMed id 15379550)1, 2, 9 Strachan G.D.... Jordan-Sciutto K.L. (Biochemistry 2004)
    10. Oncogenic NRF2 mutations in squamous cell carcinomas of oesophagus and skin. (PubMed id 19967722)1, 4 Kim Y.R....Lee S.H. (J. Pathol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9817 HGNC: 23177 AceView: KEAP1 Ensembl:ENSG00000079999 euGenes: HUgn9817
    ECgene: KEAP1 Kegg: 9817 H-InvDB: KEAP1

    (According to HUGE)
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    HUGE: KIAA0132

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KEAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KEAP1 gene:
    Search GeneIP for patents involving KEAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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