KEAP1 (kelch like ECH associated protein 1)

2007-02-01 Affiliation

Identity

HGNC

KEAP1

LOCATION

19p13.2

LOCUSID

9817

ALIAS

INrf2,KLHL19

FUSION GENES

Show Gene Fusions

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

Other Information

Locus ID:

NCBI: 9817
MIM: 606016
HGNC: 23177
Ensembl: ENSG00000079999

Variants:

dbSNP: 9817
ClinVar: 9817
TCGA: ENSG00000079999
COSMIC: KEAP1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000079999	ENST00000171111	Q14145
ENSG00000079999	ENST00000171111	A0A024R7C0
ENSG00000079999	ENST00000393623	Q14145
ENSG00000079999	ENST00000393623	A0A024R7C0
ENSG00000079999	ENST00000585845	K7EMY1
ENSG00000079999	ENST00000590593	K7EPZ3
ENSG00000079999	ENST00000591039	K7EJ49
ENSG00000079999	ENST00000591419	K7EJD8
ENSG00000079999	ENST00000592055	K7ESE0
ENSG00000079999	ENST00000592478	K7EQX2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Ubiquitin mediated proteolysis	KEGG	ko04120
Ubiquitin mediated proteolysis	KEGG	hsa04120
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Class I MHC mediated antigen processing & presentation	REACTOME	R-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradation	REACTOME	R-HSA-983168
Deubiquitination	REACTOME	R-HSA-5688426
Ub-specific processing proteases	REACTOME	R-HSA-5689880
Fluid shear stress and atherosclerosis	KEGG	ko05418
Fluid shear stress and atherosclerosis	KEGG	hsa05418

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
15282312	2004	Oxidative stress sensor Keap1 functions as an adaptor for Cul3-based E3 ligase to regulate proteasomal degradation of Nrf2.	659
15572695	2004	Keap1 is a redox-regulated substrate adaptor protein for a Cul3-dependent ubiquitin ligase complex.	424
21251164	2011	Molecular mechanisms of the Keap1–Nrf2 pathway in stress response and cancer evolution.	380
17020408	2006	Dysfunctional KEAP1-NRF2 interaction in non-small-cell lung cancer.	350
19321346	2009	NRF2 and KEAP1 mutations: permanent activation of an adaptive response in cancer.	308
17145701	2006	Mechanistic studies of the Nrf2-Keap1 signaling pathway.	295
20421418	2010	A noncanonical mechanism of Nrf2 activation by autophagy deficiency: direct interaction between Keap1 and p62.	271
18757741	2008	Cancer related mutations in NRF2 impair its recognition by Keap1-Cul3 E3 ligase and promote malignancy.	251
15601839	2005	BTB protein Keap1 targets antioxidant transcription factor Nrf2 for ubiquitination by the Cullin 3-Roc1 ligase.	248
16507366	2006	Structural basis for defects of Keap1 activity provoked by its point mutations in lung cancer.	231

Citation

Dessen P

KEAP1 (kelch like ECH associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46354/keap1