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

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; AllianceGenome:HGNC:23177
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: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10486125..10503356, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10612569..10629791, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10596801..10614032, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GSTP alleviates acute lung injury by S-glutathionylation of KEAP1 and subsequent activation of NRF2 pathway.
Title: GSTP alleviates acute lung injury by S-glutathionylation of KEAP1 and subsequent activation of NRF2 pathway.
A tumor suppressor protein encoded by circKEAP1 inhibits osteosarcoma cell stemness and metastasis by promoting vimentin proteasome degradation and activating anti-tumor immunity.
Title: A tumor suppressor protein encoded by circKEAP1 inhibits osteosarcoma cell stemness and metastasis by promoting vimentin proteasome degradation and activating anti-tumor immunity.
The role of Keap1-Nrf2 signaling pathway during the progress and therapy of diabetic retinopathy.
Title: The role of Keap1-Nrf2 signaling pathway during the progress and therapy of diabetic retinopathy.
Study of the effect of keap1 on oxidative stress in human umbilical cord mesenchymal stem cells.
Title: Study of the effect of keap1 on oxidative stress in human umbilical cord mesenchymal stem cells.
Oxidative stress sensor Keap1 recognizes HBx protein to activate the Nrf2/ARE signaling pathway, thereby inhibiting hepatitis B virus replication.
Title: Oxidative stress sensor Keap1 recognizes HBx protein to activate the Nrf2/ARE signaling pathway, thereby inhibiting hepatitis B virus replication.
KEAP1 polymorphisms and neurodevelopmental outcomes in children with exposure to prenatal MeHg from the Seychelles Child Development Study Nutrition Cohort 2.
Title: KEAP1 polymorphisms and neurodevelopmental outcomes in children with exposure to prenatal MeHg from the Seychelles Child Development Study Nutrition Cohort 2.
KEAP1 mutation in lung adenocarcinoma promotes immune evasion and immunotherapy resistance.
Title: KEAP1 mutation in lung adenocarcinoma promotes immune evasion and immunotherapy resistance.
Regulation of Keap1-Nrf2 axis in temporal lobe epilepsy-hippocampal sclerosis patients may limit the seizure outcomes.
Title: Regulation of Keap1-Nrf2 axis in temporal lobe epilepsy-hippocampal sclerosis patients may limit the seizure outcomes.
A Transcriptomic Approach Outperforms Mutational Analysis to Identify KEAP1/NFE2L2 Pathway Activation in Patients With NSCLC.
Title: A Transcriptomic Approach Outperforms Mutational Analysis to Identify KEAP1/NFE2L2 Pathway Activation in Patients With NSCLC.
Nrf2 depletion in the context of loss-of-function Keap1 leads to mitolysosome accumulation.
Title: Nrf2 depletion in the context of loss-of-function Keap1 leads to mitolysosome accumulation.

Submit: New GeneRIF Correction See all GeneRIFs (359)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G29193 (e-PCR)
- UniSTS:2355

SHGC-63493 (e-PCR)
- UniSTS:95398

RH25355 (e-PCR)
- UniSTS:76735

Bda20d07 (e-PCR)
- UniSTS:35011

SHGC-133060 (e-PCR)
- UniSTS:170995

Clone Names

MGC1114, MGC4407, MGC9454, KIAA0132, MGC10630, MGC20887

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables disordered domain specific binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to interleukin-4	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of epidermal cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in actin filament	IEA Inferred from Electronic Annotation more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in inclusion body	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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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)

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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)

NM_012289.4 → NP_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

Consensus CDS

CCDS12239.1

UniProtKB/Swiss-Prot

B3KPD5, Q14145, Q6LEP0, Q8WTX1, Q9BPY9

Related

ENSP00000377245.1, ENST00000393623.6

Conserved Domains (3) summary

PHA03098
Location:95 → 596

PHA03098; kelch-like protein; Provisional

sd00038
Location:460 → 503

Kelch; KELCH repeat [structural motif]

cd18248
Location:56 → 180

BTB_POZ_KLHL19_KEAP1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like ECH-associated protein 1 (KEAP1)
NM_203500.2 → NP_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

B3KPD5, Q14145, Q6LEP0, Q8WTX1, Q9BPY9

Related

ENSP00000171111.4, ENST00000171111.10

Conserved Domains (3) summary

PHA03098
Location:95 → 596

PHA03098; kelch-like protein; Provisional

sd00038
Location:460 → 503

Kelch; KELCH repeat [structural motif]

cd18248
Location:56 → 180

BTB_POZ_KLHL19_KEAP1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like ECH-associated protein 1 (KEAP1)