Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KEAP1 (kelch like ECH associated protein 1)

Identity

Alias_symbol (synonym)KIAA0132
MGC10630
MGC1114
MGC20887
MGC4407
MGC9454
INrf2
KLHL19
Other alias
HGNC (Hugo) KEAP1
LocusID (NCBI) 9817
Atlas_Id 46354
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 10596796 and ends at 10613481 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AC022415.5 () / KEAP1 (19p13.2)AC022415.5 KEAP1 19p13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;5)(p23;q35) SQSTM1/ALK


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)KEAP1   23177
Cards
Entrez_Gene (NCBI)KEAP1  9817  kelch like ECH associated protein 1
AliasesINrf2; KLHL19
GeneCards (Weizmann)KEAP1
Ensembl hg19 (Hinxton)ENSG00000079999 [Gene_View]  chr19:10596796-10613481 [Contig_View]  KEAP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000079999 [Gene_View]  chr19:10596796-10613481 [Contig_View]  KEAP1 [Vega]
ICGC DataPortalENSG00000079999
TCGA cBioPortalKEAP1
AceView (NCBI)KEAP1
Genatlas (Paris)KEAP1
WikiGenes9817
SOURCE (Princeton)KEAP1
Genetics Home Reference (NIH)KEAP1
Genomic and cartography
GoldenPath hg19 (UCSC)KEAP1  -     chr19:10596796-10613481 -  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KEAP1  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblKEAP1 - 19p13.2 [CytoView hg19]  KEAP1 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIKEAP1 [Mapview hg19]  KEAP1 [Mapview hg38]
OMIM606016   
Gene and transcription
Genbank (Entrez)AF361886 AK056204 AU130822 BC002417 BC002930
RefSeq transcript (Entrez)NM_012289 NM_203500
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)KEAP1
Cluster EST : UnigeneHs.465870 [ NCBI ]
CGAP (NCI)Hs.465870
Alternative Splicing GalleryENSG00000079999
Gene ExpressionKEAP1 [ NCBI-GEO ]   KEAP1 [ EBI - ARRAY_EXPRESS ]   KEAP1 [ SEEK ]   KEAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)KEAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9817
GTEX Portal (Tissue expression)KEAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14145   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14145  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14145
Splice isoforms : SwissVarQ14145
PhosPhoSitePlusQ14145
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    Gal_Oxidase_b-propeller    KEAP1    Kelch_1    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)BACK (PF07707)    BTB (PF00651)    Kelch_1 (PF01344)   
Domain families : Pfam (NCBI)pfam07707    pfam00651    pfam01344   
Domain families : Smart (EMBL)BACK (SM00875)  BTB (SM00225)  Kelch (SM00612)  
Conserved Domain (NCBI)KEAP1
DMDM Disease mutations9817
Blocks (Seattle)KEAP1
PDB (SRS)1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB   
PDB (PDBSum)1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB   
PDB (IMB)1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB   
PDB (RSDB)1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB   
Structural Biology KnowledgeBase1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB   
SCOP (Structural Classification of Proteins)1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB   
CATH (Classification of proteins structures)1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB   
SuperfamilyQ14145
Human Protein AtlasENSG00000079999
Peptide AtlasQ14145
HPRD12079
IPIIPI00106502   
Protein Interaction databases
DIP (DOE-UCLA)Q14145
IntAct (EBI)Q14145
FunCoupENSG00000079999
BioGRIDKEAP1
STRING (EMBL)KEAP1
ZODIACKEAP1
Ontologies - Pathways
QuickGOQ14145
Ontology : AmiGOin utero embryonic development  selenium compound metabolic process  ubiquitin-protein transferase activity  protein binding  nucleoplasm  cytoplasm  endoplasmic reticulum  microtubule organizing center  cytosol  actin filament  cell-cell adherens junction  focal adhesion  malate metabolic process  transcription, DNA-templated  transcription factor binding  flavonoid metabolic process  response to metal ion  proteasomal ubiquitin-independent protein catabolic process  protein ubiquitination  alkanesulfonate metabolic process  midbody  Cul3-RING ubiquitin ligase complex  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  response to immobilization stress  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  cytoplasmic sequestering of transcription factor  negative regulation of sequence-specific DNA binding transcription factor activity  regulation of epidermal cell differentiation  protein oligomerization  cellular response to interleukin-4  cellular response to organic cyclic compound  response to thyroid hormone  
Ontology : EGO-EBIin utero embryonic development  selenium compound metabolic process  ubiquitin-protein transferase activity  protein binding  nucleoplasm  cytoplasm  endoplasmic reticulum  microtubule organizing center  cytosol  actin filament  cell-cell adherens junction  focal adhesion  malate metabolic process  transcription, DNA-templated  transcription factor binding  flavonoid metabolic process  response to metal ion  proteasomal ubiquitin-independent protein catabolic process  protein ubiquitination  alkanesulfonate metabolic process  midbody  Cul3-RING ubiquitin ligase complex  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  response to immobilization stress  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  cytoplasmic sequestering of transcription factor  negative regulation of sequence-specific DNA binding transcription factor activity  regulation of epidermal cell differentiation  protein oligomerization  cellular response to interleukin-4  cellular response to organic cyclic compound  response to thyroid hormone  
Pathways : BIOCARTAOxidative Stress Induced Gene Expression Via Nrf2 [Genes]   
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkKEAP1
Atlas of Cancer Signalling NetworkKEAP1
Wikipedia pathwaysKEAP1
Orthology - Evolution
OrthoDB9817
GeneTree (enSembl)ENSG00000079999
Phylogenetic Trees/Animal Genes : TreeFamKEAP1
HOVERGENQ14145
HOGENOMQ14145
Homologs : HomoloGeneKEAP1
Homology/Alignments : Family Browser (UCSC)KEAP1
Gene fusions - Rearrangements
Fusion: TCGAAC022415.5 KEAP1 19p13.2 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKEAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KEAP1
dbVarKEAP1
ClinVarKEAP1
1000_GenomesKEAP1 
Exome Variant ServerKEAP1
ExAC (Exome Aggregation Consortium)KEAP1 (select the gene name)
Genetic variants : HAPMAP9817
Genomic Variants (DGV)KEAP1 [DGVbeta]
DECIPHER (Syndromes)19:10596796-10613481  ENSG00000079999
CONAN: Copy Number AnalysisKEAP1 
Mutations
ICGC Data PortalKEAP1 
TCGA Data PortalKEAP1 
Broad Tumor PortalKEAP1
OASIS PortalKEAP1 [ Somatic mutations - Copy number]
Cancer Gene: CensusKEAP1 
Somatic Mutations in Cancer : COSMICKEAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKEAP1
intOGen PortalKEAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KEAP1
DgiDB (Drug Gene Interaction Database)KEAP1
DoCM (Curated mutations)KEAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KEAP1 (select a term)
intoGenKEAP1
Cancer3DKEAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606016   
Orphanet
MedgenKEAP1
Genetic Testing Registry KEAP1
NextProtQ14145 [Medical]
TSGene9817
GENETestsKEAP1
Huge Navigator KEAP1 [HugePedia]
snp3D : Map Gene to Disease9817
BioCentury BCIQKEAP1
ClinGenKEAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9817
Chemical/Pharm GKB GenePA134887774
Clinical trialKEAP1
Miscellaneous
canSAR (ICR)KEAP1 (select the gene name)
Probes
Litterature
PubMed215 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKEAP1
EVEXKEAP1
GoPubMedKEAP1
iHOPKEAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 15:06:03 CEST 2017

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