ENSG00000079999


Homo sapiens

Features
Gene ID: ENSG00000079999
  
Biological name :KEAP1
  
Synonyms : KEAP1 / kelch like ECH associated protein 1 / Q14145
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.2
Gene start: 10486120
Gene end: 10503741
  
Corresponding Affymetrix probe sets: 202417_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000468014
Ensembl peptide - ENSP00000467601
Ensembl peptide - ENSP00000468671
Ensembl peptide - ENSP00000171111
Ensembl peptide - ENSP00000377245
Ensembl peptide - ENSP00000465024
Ensembl peptide - ENSP00000465126
Ensembl peptide - ENSP00000466704
NCBI entrez gene - 9817     See in Manteia.
OMIM - 606016
RefSeq - XM_011528452
RefSeq - NM_012289
RefSeq - NM_203500
RefSeq - XM_005260173
RefSeq - XM_005260174
RefSeq Peptide - NP_036421
RefSeq Peptide - NP_987096
swissprot - Q14145
swissprot - A0A024R7C0
swissprot - K7EJ49
swissprot - K7EJD8
swissprot - K7EMY1
swissprot - K7EQX2
swissprot - K7EPZ3
swissprot - K7ESE0
Ensembl - ENSG00000079999
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 keap1bENSDARG00000074634Danio rerio
 Keap1ENSMUSG00000003308Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KLHL17 / Q6TDP4 / kelch like family member 17ENSG0000018796136
KLHL20 / Q9Y2M5 / kelch like family member 20ENSG0000007632135
KLHL2 / O95198 / kelch like family member 2ENSG0000010946634
KLHL1 / Q9NR64 / kelch like family member 1ENSG0000015036134
KLHL12 / Q53G59 / kelch like family member 12ENSG0000011715333
KLHL3 / Q9UH77 / kelch like family member 3ENSG0000014602133
KLHL5 / Q96PQ7 / kelch like family member 5ENSG0000010979033
KLHL18 / O94889 / kelch like family member 18ENSG0000011464832
KLHL28 / Q9NXS3 / kelch like family member 28ENSG0000017945432
KLHL4 / Q9C0H6 / kelch like family member 4ENSG0000010227131
KLHL10 / Q6JEL2 / kelch like family member 10ENSG0000016159429
KLHL8 / Q9P2G9 / kelch like family member 8ENSG0000014533229


Protein motifs (from Interpro)
Interpro ID Name
 IPR000210  BTB/POZ domain
 IPR006652  Kelch repeat type 1
 IPR011333  SKP1/BTB/POZ domain superfamily
 IPR011705  BTB/Kelch-associated
 IPR015915  Kelch-type beta propeller
 IPR017096  BTB-kelch protein
 IPR030563  Kelch-like ECH-associated protein 1
 IPR037293  Galactose oxidase, central domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0010499 proteasomal ubiquitin-independent protein catabolic process IDA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process TAS
 biological_processGO:0042994 cytoplasmic sequestering of transcription factor IBA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0045604 regulation of epidermal cell differentiation IEA
 biological_processGO:0071353 cellular response to interleukin-4 IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005815 microtubule organizing center IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005884 actin filament IEA
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:0031463 Cul3-RING ubiquitin ligase complex IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0097718 disordered domain specific binding IEA


Pathways (from Reactome)
Pathway description
Ub-specific processing proteases
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0002671 Basal cell carcinoma 
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 HP:0002890 Thyroid carcinoma 
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 HP:0005584 Renal cell carcinoma "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators]
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 HP:0005987 Multinodular goiter 
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 HP:0006779 Alveolar rhabdomyosarcoma 
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 HP:0007129 Cerebellar medulloblastoma 
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 HP:0030071 Medulloepithelioma "A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal." [pmid:17566306]
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 HP:0030434 Pilomatrixoma "Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm." [HPO:probinson, pmid:21430899]
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 HP:0100528 Pleuropulmonary blastoma "A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant." [HPO:sdoelken]
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 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
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 HP:0100617 Testicular seminoma "The presence of a `seminoma` (MPATH:317), an undifferentiated germ cell tumor of the `testis` (FMA:7210)." [HPO:sdoelken]
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 HP:0100619 Sertoli cell neoplasm "The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210) with origin in a ` Sertoli cell` (CL:0000216)." [HPO:probinson]
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 HP:0200063 Colorectal polyps 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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