ENSG00000114796


Homo sapiens

Features
Gene ID: ENSG00000114796
  
Biological name :KLHL24
  
Synonyms : kelch like family member 24 / KLHL24 / Q6TFL4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q27.1
Gene start: 183635568
Gene end: 183684477
  
Corresponding Affymetrix probe sets: 206551_x_at (Human Genome U133 Plus 2.0 Array)   221985_at (Human Genome U133 Plus 2.0 Array)   221986_s_at (Human Genome U133 Plus 2.0 Array)   226158_at (Human Genome U133 Plus 2.0 Array)   242088_at (Human Genome U133 Plus 2.0 Array)   243918_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000408516
Ensembl peptide - ENSP00000395012
Ensembl peptide - ENSP00000408567
Ensembl peptide - ENSP00000420207
Ensembl peptide - ENSP00000419120
Ensembl peptide - ENSP00000419010
Ensembl peptide - ENSP00000418922
Ensembl peptide - ENSP00000417347
Ensembl peptide - ENSP00000417275
Ensembl peptide - ENSP00000416836
Ensembl peptide - ENSP00000242810
NCBI entrez gene - 54800     See in Manteia.
OMIM - 611295
RefSeq - XM_017006663
RefSeq - XM_005247553
RefSeq - XM_005247554
RefSeq - XM_005247555
RefSeq - XM_005247556
RefSeq - XM_011512938
RefSeq - XM_017006650
RefSeq - XM_017006651
RefSeq - XM_017006652
RefSeq - XM_017006653
RefSeq - XM_017006654
RefSeq - XM_017006655
RefSeq - XM_017006656
RefSeq - XM_017006657
RefSeq - XM_017006658
RefSeq - XM_017006659
RefSeq - XM_017006660
RefSeq - XM_017006661
RefSeq - XM_017006662
RefSeq - NM_001349420
RefSeq - NM_001349421
RefSeq - NM_001349422
RefSeq - NM_001349423
RefSeq - NM_001349424
RefSeq - NM_001349425
RefSeq - NM_001349426
RefSeq - NM_017644
RefSeq - XM_005247552
RefSeq Peptide - NP_001336350
RefSeq Peptide - NP_001336351
RefSeq Peptide - NP_001336352
RefSeq Peptide - NP_001336353
RefSeq Peptide - NP_001336354
RefSeq Peptide - NP_001336355
RefSeq Peptide - NP_060114
RefSeq Peptide - NP_001336348
RefSeq Peptide - NP_001336349
swissprot - C9JXR5
swissprot - C9JQ67
swissprot - C9JN72
swissprot - C9JMQ9
swissprot - C9JCK3
swissprot - C9J3M5
swissprot - C9J2N4
swissprot - Q6TFL4
swissprot - C9J0A6
Ensembl - ENSG00000114796
  
Related genetic diseases (OMIM): 617294 - Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294
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
 klhl24aENSDARG00000021739Danio rerio
 klhl24bENSDARG00000008275Danio rerio
 KLHL24ENSGALG00000002277Gallus gallus
 Klhl24ENSMUSG00000062901Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KLHL6 / Q8WZ60 / kelch like family member 6ENSG0000017257843
KLHL35 / Q6PF15 / kelch like family member 35ENSG0000014924343
KLHL29 / Q96CT2 / kelch like family member 29ENSG0000011977134
ENC1 / O14682 / ectodermal-neural cortex 1ENSG0000017161731
KLHL25 / Q9H0H3 / kelch like family member 25ENSG0000018365531
KLHL38 / Q2WGJ6 / kelch like family member 38ENSG0000017594630
KLHL21 / Q9UJP4 / kelch like family member 21ENSG0000016241329
KLHL30 / Q0D2K2 / kelch like family member 30ENSG0000016842728
KLHL23 / Q8NBE8 / kelch like family member 23ENSG0000021316028
KBTBD3 / Q8NAB2 / kelch repeat and BTB domain containing 3ENSG0000018235925
KBTBD8 / Q8NFY9 / kelch repeat and BTB domain containing 8ENSG0000016337625
KLHL40 / Q2TBA0 / kelch like family member 40ENSG0000015711925
Q3ZCT8 / KBTBD12 / kelch repeat and BTB domain containing 12ENSG0000018771524
KLHL41 / O60662 / kelch like family member 41ENSG0000023947423
KBTBD7 / Q8WVZ9 / kelch repeat and BTB domain containing 7ENSG0000012069622
KBTBD6 / Q86V97 / kelch repeat and BTB domain containing 6ENSG0000016557222
KBTBD2 / Q8IY47 / kelch repeat and BTB domain containing 2ENSG0000017085222


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
 IPR030596  Kelch-like protein 24
 IPR037293  Galactose oxidase, central domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016567 protein ubiquitination IDA
 biological_processGO:0045109 intermediate filament organization IMP
 biological_processGO:0051865 protein autoubiquitination IMP
 biological_processGO:2000312 regulation of kainate selective glutamate receptor activity IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005912 adherens junction IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030057 desmosome IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0031463 Cul3-RING ubiquitin ligase complex IMP
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043204 perikaryon IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IBA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001810 Dystrophic toenails 
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 HP:0002231 Sparse body hair "Sparseness of the body hair." [HPO:probinson]
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 HP:0007435 Diffuse palmoplantar keratoderma 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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