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KEAP1 (kelch like ECH associated protein 1)

Identity

Alias (NCBI)INrf2
KLHL19
HGNC (Hugo) KEAP1
HGNC Alias symbKIAA0132
MGC10630
MGC1114
MGC20887
MGC4407
MGC9454
INrf2
KLHL19
HGNC Alias namekelch-like family member 19
LocusID (NCBI) 9817
Atlas_Id 46354
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 10486125 and ends at 10503356 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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) [ 2 ]
  t(2;5)(p23;q35) SQSTM1::ALK
t(5;9)(q35;q34) SQSTM1::NUP214


External links

 

Nomenclature
HGNC (Hugo)KEAP1   23177
Cards
Entrez_Gene (NCBI)KEAP1    kelch like ECH associated protein 1
AliasesINrf2; KLHL19
GeneCards (Weizmann)KEAP1
Ensembl hg19 (Hinxton)ENSG00000079999 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000079999 [Gene_View]  ENSG00000079999 [Sequence]  chr19:10486125-10503356 [Contig_View]  KEAP1 [Vega]
ICGC DataPortalENSG00000079999
TCGA cBioPortalKEAP1
AceView (NCBI)KEAP1
Genatlas (Paris)KEAP1
SOURCE (Princeton)KEAP1
Genetics Home Reference (NIH)KEAP1
Genomic and cartography
GoldenPath hg38 (UCSC)KEAP1  -     chr19:10486125-10503356 -  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KEAP1  -     19p13.2   [Description]    (hg19-Feb_2009)
GoldenPathKEAP1 - 19p13.2 [CytoView hg19]  KEAP1 - 19p13.2 [CytoView hg38]
ImmunoBaseENSG00000079999
Genome Data Viewer NCBIKEAP1 [Mapview hg19]  
OMIM606016   
Gene and transcription
Genbank (Entrez)AF361886 AK056204 AU130822 BC002417 BC002930
RefSeq transcript (Entrez)NM_012289 NM_203500
Consensus coding sequences : CCDS (NCBI)KEAP1
Gene ExpressionKEAP1 [ NCBI-GEO ]   KEAP1 [ EBI - ARRAY_EXPRESS ]   KEAP1 [ SEEK ]   KEAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)KEAP1 [ Firebrowse - Broad ]
GenevisibleExpression of KEAP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9817
GTEX Portal (Tissue expression)KEAP1
Human Protein AtlasENSG00000079999-KEAP1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ14145
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    KEAP1    Kelch-typ_b-propeller    Kelch_1    SKP1/BTB/POZ_sf   
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
PDB (RSDB)1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB    5DAD    5DAF    5F72    5GIT    5NLB    5WFL    5WFV    5WG1    5WHL    5WHO    5WIY    5X54    6FFM    6FMP    6FMQ    6HWS    6LRZ    6ROG    6SP1    6SP4    6T7V    6T7Z    6TG8    6TYM    6TYP    6UF0    6V6Z    6W66    6W67    6W68    6W69    6WCQ   
PDB Europe1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB    5DAD    5DAF    5F72    5GIT    5NLB    5WFL    5WFV    5WG1    5WHL    5WHO    5WIY    5X54    6FFM    6FMP    6FMQ    6HWS    6LRZ    6ROG    6SP1    6SP4    6T7V    6T7Z    6TG8    6TYM    6TYP    6UF0    6V6Z    6W66    6W67    6W68    6W69    6WCQ   
PDB (PDBSum)1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB    5DAD    5DAF    5F72    5GIT    5NLB    5WFL    5WFV    5WG1    5WHL    5WHO    5WIY    5X54    6FFM    6FMP    6FMQ    6HWS    6LRZ    6ROG    6SP1    6SP4    6T7V    6T7Z    6TG8    6TYM    6TYP    6UF0    6V6Z    6W66    6W67    6W68    6W69    6WCQ   
PDB (IMB)1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB    5DAD    5DAF    5F72    5GIT    5NLB    5WFL    5WFV    5WG1    5WHL    5WHO    5WIY    5X54    6FFM    6FMP    6FMQ    6HWS    6LRZ    6ROG    6SP1    6SP4    6T7V    6T7Z    6TG8    6TYM    6TYP    6UF0    6V6Z    6W66    6W67    6W68    6W69    6WCQ   
Structural Biology KnowledgeBase1U6D    1ZGK    2FLU    3VNG    3VNH    3ZGC    3ZGD    4CXI    4CXJ    4CXT    4IFJ    4IFL    4IFN    4IN4    4IQK    4L7B    4L7C    4L7D    4N1B    4XMB    5DAD    5DAF    5F72    5GIT    5NLB    5WFL    5WFV    5WG1    5WHL    5WHO    5WIY    5X54    6FFM    6FMP    6FMQ    6HWS    6LRZ    6ROG    6SP1    6SP4    6T7V    6T7Z    6TG8    6TYM    6TYP    6UF0    6V6Z    6W66    6W67    6W68    6W69    6WCQ   
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    5DAD    5DAF    5F72    5GIT    5NLB    5WFL    5WFV    5WG1    5WHL    5WHO    5WIY    5X54    6FFM    6FMP    6FMQ    6HWS    6LRZ    6ROG    6SP1    6SP4    6T7V    6T7Z    6TG8    6TYM    6TYP    6UF0    6V6Z    6W66    6W67    6W68    6W69    6WCQ   
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    5DAD    5DAF    5F72    5GIT    5NLB    5WFL    5WFV    5WG1    5WHL    5WHO    5WIY    5X54    6FFM    6FMP    6FMQ    6HWS    6LRZ    6ROG    6SP1    6SP4    6T7V    6T7Z    6TG8    6TYM    6TYP    6UF0    6V6Z    6W66    6W67    6W68    6W69    6WCQ   
SuperfamilyQ14145
AlphaFold pdb e-kbQ14145   
Human Protein Atlas [tissue]ENSG00000079999-KEAP1 [tissue]
HPRD12079
Protein Interaction databases
DIP (DOE-UCLA)Q14145
IntAct (EBI)Q14145
BioGRIDKEAP1
STRING (EMBL)KEAP1
ZODIACKEAP1
Ontologies - Pathways
QuickGOQ14145
Ontology : AmiGOin utero embryonic development  protein binding  nucleoplasm  cytoplasm  endoplasmic reticulum  cytosol  cytosol  actin filament  ubiquitin-dependent protein catabolic process  transcription factor binding  transcription factor binding  regulation of autophagy  inclusion body  protein ubiquitination  protein ubiquitination  protein deubiquitination  midbody  Cul3-RING ubiquitin ligase complex  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  centriolar satellite  cellular response to oxidative stress  identical protein binding  cytoplasmic sequestering of transcription factor  negative regulation of DNA-binding transcription factor activity  post-translational protein modification  regulation of epidermal cell differentiation  cellular response to interleukin-4  disordered domain specific binding  
Ontology : EGO-EBIin utero embryonic development  protein binding  nucleoplasm  cytoplasm  endoplasmic reticulum  cytosol  cytosol  actin filament  ubiquitin-dependent protein catabolic process  transcription factor binding  transcription factor binding  regulation of autophagy  inclusion body  protein ubiquitination  protein ubiquitination  protein deubiquitination  midbody  Cul3-RING ubiquitin ligase complex  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  centriolar satellite  cellular response to oxidative stress  identical protein binding  cytoplasmic sequestering of transcription factor  negative regulation of DNA-binding transcription factor activity  post-translational protein modification  regulation of epidermal cell differentiation  cellular response to interleukin-4  disordered domain specific binding  
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
Homologs : HomoloGeneKEAP1
Homology/Alignments : Family Browser (UCSC)KEAP1
Gene fusions - Rearrangements
Fusion : QuiverKEAP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKEAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KEAP1
dbVarKEAP1
ClinVarKEAP1
MonarchKEAP1
1000_GenomesKEAP1 
Exome Variant ServerKEAP1
GNOMAD BrowserENSG00000079999
Varsome BrowserKEAP1
ACMGKEAP1 variants
VarityQ14145
Genomic Variants (DGV)KEAP1 [DGVbeta]
DECIPHERKEAP1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DKEAP1
Mutations and Diseases : HGMDKEAP1
intOGen PortalKEAP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaKEAP1
DgiDB (Drug Gene Interaction Database)KEAP1
DoCM (Curated mutations)KEAP1
CIViC (Clinical Interpretations of Variants in Cancer)KEAP1
Cancer3DKEAP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606016   
Orphanet
DisGeNETKEAP1
MedgenKEAP1
Genetic Testing Registry KEAP1
NextProtQ14145 [Medical]
GENETestsKEAP1
Target ValidationKEAP1
Huge Navigator KEAP1 [HugePedia]
ClinGenKEAP1
Clinical trials, drugs, therapy
MyCancerGenomeKEAP1
Protein Interactions : CTDKEAP1
Pharm GKB GenePA134887774
PharosQ14145
Clinical trialKEAP1
Miscellaneous
canSAR (ICR)KEAP1
HarmonizomeKEAP1
ARCHS4KEAP1
DataMed IndexKEAP1
Probes
Litterature
PubMed432 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXKEAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:16:40 CET 2022

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