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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]
KEAP1 (Kelch Like ECH Associated Protein 1) is a Protein Coding gene. Diseases associated with KEAP1 include Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors and Papillary Adenocarcinoma. Among its related pathways are Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is KLHL17.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 15601839 |
GO:0008134 | transcription factor binding | IEA,IPI | 17015834 |
GO:0042802 | identical protein binding | IEA | -- |
GO:0097718 | disordered domain specific binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 15601839 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | 17015834 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
|
Sertoli-Sertoli Cell Junction Dynamics
.38
|
3 | Deubiquitination |
.74
|
|
4 | Metabolism of proteins | ||
5 | Translational Control |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IEA,IDA | 15601839 |
GO:0010506 | regulation of autophagy | IDA | 20452972 |
GO:0016032 | viral process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Dimethyl fumarate | Approved, Investigational | Pharma | Target, binder | 102 | ||
Carboplatin | Approved | Pharma | Antitumor agent that forms platinum-DNA adducts., Platinum | 2588 | ||
Dexamethasone | Approved, Investigational, Vet_approved | Pharma | Agonist | Anti-inflammatory glucocorticoid | 2886 | |
Dexamethasone acetate | Approved, Investigational, Vet_approved | Pharma | 2886 | |||
Hydroxocobalamin | Approved | Pharma | 437 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Curcumin | Tyrosinase inhibitor | 458-37-7 |
Dimethyl Fumarate | 624-49-7 | |
Omaveloxolone (RTA-408) | 1474034-05-3 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | · | 14c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KEAP1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KEAP1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KEAP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KEAP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Keap1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Keap1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KEAP1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KEAP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | keap1 30 |
|
||
Str.5652 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.18653 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | keap1b 30 31 |
|
OneToOne | |
keap1 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003645 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Keap1 30 31 32 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4993 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
694079 | Uncertain Significance: Squamous cell carcinoma of the head and neck | 10,492,202(-) | G/A | MISSENSE_VARIANT | |
716698 | Likely Benign: not provided | 10,489,655(-) | G/A | SYNONYMOUS_VARIANT | |
720212 | Benign: not provided | 10,499,944(-) | C/T | SYNONYMOUS_VARIANT | |
722217 | Likely Benign: not provided | 10,491,786(-) | C/T | SYNONYMOUS_VARIANT | |
725487 | Likely Benign: not provided | 10,491,691(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
goiter, multinodular 1, with or without sertoli-leydig cell tumors |
|
|
papillary adenocarcinoma |
|
|
paget's disease of bone |
|
|
lung squamous cell carcinoma |
|
|
fumarase deficiency |
|
|