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KEAP1 kelch like ECH associated protein 1 [ Homo sapiens (human) ]

Gene ID: 9817, updated on 6-Jan-2019

Summary

Official Symbol
KEAP1provided by HGNC
Official Full Name
kelch like ECH associated protein 1provided by HGNC
Primary source
HGNC:HGNC:23177
See related
Ensembl:ENSG00000079999 MIM:606016
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
INrf2; KLHL19
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 10.4), prostate (RPKM 9.9) and 25 other tissues See more
Orthologs

Genomic context

See KEAP1 in Genome Data Viewer
Location:
19p13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (10486120..10503378, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10596796..10614054, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene cell division cycle 37 Neighboring gene microRNA 1181 Neighboring gene phosphodiesterase 4A Neighboring gene sphingosine-1-phosphate receptor 5 Neighboring gene RNA, U7 small nuclear 140 pseudogene Neighboring gene autophagy related 4D cysteine peptidase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Overexpression of Nrf2 or Keap1 knockdown by siRNA inhibits Tat-induced HIV-1 LTR transactivation in MAGI cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
    Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
  • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
    Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • NRF2 pathway, organism-specific biosystem (from WikiPathways)
    NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
  • Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling, organism-specific biosystem (from WikiPathways)
    Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling, organism-specific biosystemPhotodynamic therapy may induce an antioxidant response mediated by NFE2L2.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Quercetin and Nf-kB/ AP-1 Induced Cell Apoptosis, organism-specific biosystem (from WikiPathways)
    Quercetin and Nf-kB/ AP-1 Induced Cell Apoptosis, organism-specific biosystem
    Quercetin and Nf-kB/ AP-1 Induced Cell Apoptosis
  • Transcriptional activation by NRF2, organism-specific biosystem (from WikiPathways)
    Transcriptional activation by NRF2, organism-specific biosystemBased on [http://www.nature.com/nrc/journal/v3/n10/fig_tab/nrc1189_F4.html Surh, 2003, figure 4]. Nrf2 induces the expression of many antioxidant enzymes. It is therefore thought to be involved in ox...
  • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
    Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1114, MGC4407, MGC9454, KIAA0132, MGC10630, MGC20887

Gene Ontology Provided by GOA

Function Evidence Code Pubs
disordered domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to interleukin-4 IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic sequestering of transcription factor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasomal ubiquitin-independent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of epidermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
actin filament IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
microtubule organizing center IDA
Inferred from Direct Assay
more info
 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
kelch-like ECH-associated protein 1
Names
KEAP1 delta C
cytosolic inhibitor of Nrf2
kelch-like family member 19
kelch-like protein 19

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012289.3NP_036421.2  kelch-like ECH-associated protein 1

    See identical proteins and their annotated locations for NP_036421.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR, as compared to variant 1.
    Source sequence(s)
    AU130822, BC002930, BC015945
    Consensus CDS
    CCDS12239.1
    UniProtKB/Swiss-Prot
    Q14145
    UniProtKB/TrEMBL
    A0A024R7C0
    Related
    ENSP00000377245.1, ENST00000393623.6
    Conserved Domains (2) summary
    sd00038
    Location:460503
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:95596
    BTB; Broad-Complex, Tramtrack and Bric a brac
  2. NM_203500.2NP_987096.1  kelch-like ECH-associated protein 1

    See identical proteins and their annotated locations for NP_987096.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AK056204, BC015945
    Consensus CDS
    CCDS12239.1
    UniProtKB/Swiss-Prot
    Q14145
    UniProtKB/TrEMBL
    A0A024R7C0
    Related
    ENSP00000171111.4, ENST00000171111.9
    Conserved Domains (2) summary
    sd00038
    Location:460503
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:95596
    BTB; Broad-Complex, Tramtrack and Bric a brac

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    10486120..10503378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528452.1XP_011526754.1  kelch-like ECH-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011526754.1

    UniProtKB/Swiss-Prot
    Q14145
    UniProtKB/TrEMBL
    A0A024R7C0
    Conserved Domains (2) summary
    sd00038
    Location:460503
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:95596
    BTB; Broad-Complex, Tramtrack and Bric a brac
  2. XM_005260173.1XP_005260230.1  kelch-like ECH-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005260230.1

    UniProtKB/Swiss-Prot
    Q14145
    UniProtKB/TrEMBL
    A0A024R7C0
    Conserved Domains (2) summary
    sd00038
    Location:460503
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:95596
    BTB; Broad-Complex, Tramtrack and Bric a brac
  3. XM_005260174.1XP_005260231.1  kelch-like ECH-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005260231.1

    UniProtKB/Swiss-Prot
    Q14145
    UniProtKB/TrEMBL
    A0A024R7C0
    Conserved Domains (2) summary
    sd00038
    Location:460503
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:95596
    BTB; Broad-Complex, Tramtrack and Bric a brac
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