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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KEAP1 Gene

protein-coding   GIFtS: 61
GCID: GC19M010596

kelch-like ECH-associated protein 1
 Explore 28 diseases affiliated with
KEAP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KEAP1    

Aliases
for KEAP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Kelch-Like ECH-Associated Protein 11 2     MGC11141
INrf21 2 3     MGC208871
KLHL191 2 3     MGC44071
KIAA01321 3 5     MGC94541
Cytosolic Inhibitor Of Nrf22 3     Kelch-Like Family Member 192
Kelch-Like Protein 192 3     INRF23
MGC106301     

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


Summaries
for KEAP1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for KEAP1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KEAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for KEAP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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. Interacts indirectly with ENC1
Subcellular location: Cytoplasm. Nucleus. Note=Shuttles between cytoplasm and nucleus
Sequence caution: Sequence=BAA09481.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
5 PDB 3D structures from and Proteopedia for KEAP1:
1U6D (3D)        1ZGK (3D)        2FLU (3D)        3VNG (3D)        3VNH (3D)    
Secondary accessions: B3KPD5 Q6LEP0 Q8WTX1 Q9BPY9

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14145

    • KEAP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals KEAP1 Protein
    Novus Biologicals KEAP1 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KEAP1

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

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


    KEAP1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for KEAP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KEAP1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR017096 Kelch-like_gigaxonin
     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 families:
    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


    Function
    for KEAP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Enzyme regulation: Ubiquitination and subsequent degradation of PGAM5 is inhibited by oxidative stress and
    sulforaphane. Sulforaphane also inhibits ubiquitination of NFE2L2/NRF2

    miRNA
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    hsa-miR-141 hsa-miR-2116 hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmid: KEAP1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    KEAP1 for ontologies           About GeneDecksing


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

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

    KEAP1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KEAP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    		Antigen processing: Ubiquitination & Proteasome degradation1.00
    		Polyubiquitination of substrate0.75
    		Class I MHC mediated antigen processing & presentation0.83
    		Ubiquitin mediated proteolysis0.36
    2Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    3Sertoli-Sertoli Cell Junction Dynamics
    		Sertoli-Sertoli Cell Junction Dynamics1.00
    		Germ Cell-Sertoli Cell Junction Dynamics0.38
    4Protein Stability
    		Protein Stability1.00
    5Keap1-Nrf2 Pathway
    		Keap1-Nrf2 Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN 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

    5        Reactome Pathways for KEAP1
        Antigen processing: Ubiquitination & Proteasome degradation
    Polyubiquitination of substrate
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KEAP1

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

    5/82 Interacting proteins for KEAP1 (Q141451, 2, 3 ENSP000001711114) via UniProtKB, MINT, STRING, and/or I2D (see all 82)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFE2L2Q162362, 3, ENSP000003802524MINT-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
    AK4P271442, 3MINT-8247640 I2D: score=2 
    IKBKBO149201, 3, ENSP000003391514EBI-751001,EBI-81266 I2D: score=2 STRING: ENSP00000339151
    TSC22D4Q9Y3Q81, 3, ENSP000003001814EBI-751001,EBI-739485 I2D: score=2 STRING: ENSP00000300181
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0010499proteasomal ubiquitin-independent protein catabolic process IDA15983046
    GO:0010629negative regulation of gene expression ----


    KEAP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KEAP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KEAP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KEAP1
    10/13 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about KEAP1 

    Transcripts
    for KEAP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

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    Clone
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    Additional cDNA 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 

    24/459 AceView cDNA sequences (see all 459):

    BQ070967 AU130462 AI202307 BU190494 BQ649705 AI619825 CA438004 AI433850 
    BQ064058 BQ055280 BE857041 BX331766 BC021957 AL135103 AU103070 AW206673 
    BG830169 BM710431 BM020292 BM980481 BQ056440 AW131087 BM909549 AI366720 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for KEAP1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KEAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGATTTATTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See KEAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KEAP1

    SOURCE GeneReport for Unigene cluster: Hs.465870

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

        SABiosciences Expression via Pathway-Focused PCR Array including KEAP1: 
              Ubiquitin Ligases in human mouse rat

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    Orthologs
    for KEAP1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KEAP1 gene from 5/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia KEAP16
    		 --
    		 83(a)
    		 1 ↔ 1
    		 2(28588492-28601562)
    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
    CG3962-PA1    		 53(a)3
    56.68(n)1
    50.36(a)1    		   89E113
    420621  NM_169744.21  NP_732202.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea C53A5.116
    C53A5.96
    (see all 7)    		 Protein C53A5.9
    (see all 7)    		 17(a)
    17(a)
    (see all 7)    		 possible ortholog
    possible ortholog
    (see all 7)    		 V(14562550-14564624)
    V(14557023-14558903)


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

    Paralogs
    for KEAP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KEAP1 gene
    KLHL172  KLHL182  KLHL202  KLHL52  KLHL122  KLHL282  KLHL42  IPP2  
    KLHL32  KLHL82  KLHL102  KLHL12  KLHL22  
    18/30 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    ZBTB21    KLHL5    KLHL8
    ZBTB16    KLHL7    KBTBD4    ZBTB38    KLHL12    KLHL4

    KEAP1 for paralogs           About GeneDecksing



    Genomic Variants
    for KEAP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/352 NCBI SNPs in KEAP1 are shown (see all 352)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1898748391,2
    		--10596351(+) GAGTTA/GAGATC 2 -- ds50010--------
    rs1128294981,2
    		--10596442(+) CGGGAG/AGCTGA 2 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1825168671,2
    		--10596444(+) GGAGGC/GTGAGG 2 -- ds50010--------
    rs1446594011,2
    		--10596469(+) GAACCC/TAGGAG 2 -- ds50010--------
    rs342562301,2
    		C,F,--10596480(+) GCAGAG/AGTCGC 2 -- ds50013Minor allele frequency- A:0.33NA 6
    rs1402202441,2
    		--10596481(+) CAGAGA/GTCGCA 2 -- ds50010--------
    rs343460151,2
    		C,F,--10596489(+) GCAGTG/AAGCTG 2 -- ds50015Minor allele frequency- A:0.06NA WA 244
    rs1857982291,2
    		--10596507(+) GCCATC/TGCACT 2 -- ds50010--------
    rs607165951,2
    		C--10596546(+) AAAAA-/AATGACC 2 -- ds50010--------
    rs779954351,2
    		F,--10596639(+) CAACTG/ATGTGG 2 -- ds50012Minor allele frequency- A:0.03NA EA 240

    HapMap Linkage Disequilibrium report for KEAP1 (10596796 - 10614417 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KEAP1: --

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    Disorders / Diseases
    for KEAP1 gene

    (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.)
    About This Section
    KEAP1 for disorders           About GeneDecksing

    OMIM gene information: 606016    OMIM disorders: --

    20/28 diseases for KEAP1 (see all 28):    About MalaCards
    non-small cell lung carcinoma    amyotrophic lateral sclerosis    lateral sclerosis    pulmonary emphysema
    emphysema    malignant glioma    renal cell carcinoma    wilms tumor
    papillary adenocarcinoma    squamous cell carcinoma    gallbladder cancer    lung carcinoma
    cataract    carcinoma    colon carcinoma    alzheimer's disease
    ovarian cancer    breast carcinoma    lung cancer    adenocarcinoma

    5 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: KEAP1 (5 documents)

    Export disorders for KEAP1 gene to outside databases

    Publications
    for KEAP1 gene

    (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)
    About This Section

    PubMed articles for KEAP1 gene, integrated from 9 sources (see all 211):
    (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. (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. (2005)
    3. 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. (2004)
    4. 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. (2006)
    5. Structure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signaling. (PubMed id 16888629)1, 2, 9 Lo S.-C.... Hannink M. (2006)
    6. PGAM5 tethers a ternary complex containing Keap1 and Nrf2 to mitochondria. (PubMed id 18387606)1, 2, 9 Lo S.-C. and Hannink M. (2008)
    7. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PubMed id 19424503)1, 2, 9 Wang X.J. and Zhang D.D. (2009)
    8. 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. (2004)
    9. Nrf1 is targeted to the endoplasmic reticulum membrane by an N-terminal transmembrane domain. Inhibition of nuclear translocation and transacting function. (PubMed id 16687406)1, 2 Wang W. and Chan J.Y. (2006)
    10. PGAM5, a Bcl-XL-interacting protein, is a novel substrate for the redox-regulated Keap1-dependent ubiquitin ligase complex. (PubMed id 17046835)1, 2 Lo S.-C. and Hannink M. (2006)

    External Searches for KEAP1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing KEAP1 gene

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

    Other Databases showing KEAP1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0132

    Specialized Databases showing KEAP1 gene

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

    Intellectual Property
    for KEAP1 gene

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

    GeneCards and IP:
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