ENSG00000239474


Homo sapiens

Features
Gene ID: ENSG00000239474
  
Biological name :KLHL41
  
Synonyms : kelch like family member 41 / KLHL41 / O60662
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q31.1
Gene start: 169509702
Gene end: 169526262
  
Corresponding Affymetrix probe sets: 219106_s_at (Human Genome U133 Plus 2.0 Array)   222827_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000284669
NCBI entrez gene - 10324     See in Manteia.
OMIM - 607701
RefSeq - NM_006063
RefSeq Peptide - NP_006054
swissprot - O60662
Ensembl - ENSG00000239474
  
Related genetic diseases (OMIM): 615731 - Nemaline myopathy 9, 615731
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
 E9QIN8ENSDARG00000068888Danio rerio
 F1QEG2ENSDARG00000006757Danio rerio
 KLHL41ENSGALG00000038813Gallus gallus
 A2AUC9ENSMUSG00000075307Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KLHL40 / Q2TBA0 / kelch like family member 40ENSG0000015711951
KLHL38 / Q2WGJ6 / kelch like family member 38ENSG0000017594624
KBTBD2 / Q8IY47 / kelch repeat and BTB domain containing 2ENSG0000017085224
KBTBD8 / Q8NFY9 / kelch repeat and BTB domain containing 8ENSG0000016337623
KLHL25 / Q9H0H3 / kelch like family member 25ENSG0000018365523
KLHL24 / Q6TFL4 / kelch like family member 24ENSG0000011479623
KLHL21 / Q9UJP4 / kelch like family member 21ENSG0000016241322
KLHL29 / Q96CT2 / kelch like family member 29ENSG0000011977122
ENC1 / O14682 / ectodermal-neural cortex 1ENSG0000017161722
KLHL35 / Q6PF15 / kelch like family member 35ENSG0000014924322
KLHL30 / Q0D2K2 / kelch like family member 30ENSG0000016842722
KLHL6 / Q8WZ60 / kelch like family member 6ENSG0000017257821
Q3ZCT8 / KBTBD12 / kelch repeat and BTB domain containing 12ENSG0000018771521
KBTBD6 / Q86V97 / kelch repeat and BTB domain containing 6ENSG0000016557219
KBTBD7 / Q8WVZ9 / kelch repeat and BTB domain containing 7ENSG0000012069619
KLHL23 / Q8NBE8 / kelch like family member 23ENSG0000021316019
KBTBD3 / Q8NAB2 / kelch repeat and BTB domain containing 3ENSG0000018235918


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
 IPR030571  Kelch-like protein 41


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006941 striated muscle contraction TAS
 biological_processGO:0016567 protein ubiquitination IDA
 biological_processGO:0030239 myofibril assembly IEA
 biological_processGO:0031275 regulation of lateral pseudopodium assembly IEA
 biological_processGO:0035914 skeletal muscle cell differentiation ISS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0045214 sarcomere organization IBA
 biological_processGO:0045661 regulation of myoblast differentiation IEA
 biological_processGO:0048741 skeletal muscle fiber development IBA
 biological_processGO:2000291 regulation of myoblast proliferation IEA
 biological_processGO:2001014 regulation of skeletal muscle cell differentiation IEA
 cellular_componentGO:0001726 ruffle IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IBA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0031143 pseudopodium IEA
 cellular_componentGO:0031430 M band ISS
 cellular_componentGO:0031463 Cul3-RING ubiquitin ligase complex IDA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IBA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000774 Narrow chest 
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 HP:0001270 Motor retardation 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001623 breech presentation 
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 HP:0001989 Early severe fetal akinesia sequence 
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 HP:0002093 Respiratory insufficiency 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002804 Arthrogryposis multiplex congenita 
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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