ENSG00000157119


Homo sapiens

Features
Gene ID: ENSG00000157119
  
Biological name :KLHL40
  
Synonyms : kelch like family member 40 / KLHL40 / Q2TBA0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p22.1
Gene start: 42685519
Gene end: 42692544
  
Corresponding Affymetrix probe sets: 1555044_a_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000287777
NCBI entrez gene - 131377     See in Manteia.
OMIM - 615340
RefSeq - NM_152393
RefSeq Peptide - NP_689606
swissprot - Q2TBA0
Ensembl - ENSG00000157119
  
Related genetic diseases (OMIM): 615348 - Nemaline myopathy 8, autosomal recessive, 615348
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
 B3DIV9ENSDARG00000039052Danio rerio
 E9QJ30ENSDARG00000019125Danio rerio
 KLHL40ENSGALG00000005292Gallus gallus
 Klhl40ENSMUSG00000074001Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KLHL41 / O60662 / kelch like family member 41ENSG0000023947450
KLHL35 / Q6PF15 / kelch like family member 35ENSG0000014924325
KBTBD8 / Q8NFY9 / kelch repeat and BTB domain containing 8ENSG0000016337625
KLHL24 / Q6TFL4 / kelch like family member 24ENSG0000011479624
KLHL25 / Q9H0H3 / kelch like family member 25ENSG0000018365524
KBTBD2 / Q8IY47 / kelch repeat and BTB domain containing 2ENSG0000017085223
KLHL21 / Q9UJP4 / kelch like family member 21ENSG0000016241323
KLHL6 / Q8WZ60 / kelch like family member 6ENSG0000017257823
KLHL38 / Q2WGJ6 / kelch like family member 38ENSG0000017594623
ENC1 / O14682 / ectodermal-neural cortex 1ENSG0000017161722
KLHL30 / Q0D2K2 / kelch like family member 30ENSG0000016842721
KLHL29 / Q96CT2 / kelch like family member 29ENSG0000011977121
Q3ZCT8 / KBTBD12 / kelch repeat and BTB domain containing 12ENSG0000018771521
KLHL23 / Q8NBE8 / kelch like family member 23ENSG0000021316020
KBTBD3 / Q8NAB2 / kelch repeat and BTB domain containing 3ENSG0000018235919
KBTBD7 / Q8WVZ9 / kelch repeat and BTB domain containing 7ENSG0000012069619
KBTBD6 / Q86V97 / kelch repeat and BTB domain containing 6ENSG0000016557218


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
 IPR030607  Kelch-like protein 40


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0031397 negative regulation of protein ubiquitination IBA
 biological_processGO:0031398 positive regulation of protein ubiquitination ISS
 biological_processGO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
 biological_processGO:0048741 skeletal muscle fiber development ISS
 biological_processGO:0098528 skeletal muscle fiber differentiation ISS
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0031463 Cul3-RING ubiquitin ligase complex ISS
 cellular_componentGO:0031672 A band IBA
 cellular_componentGO:0031674 I band IBA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IBA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000765 Abnormality of the thorax "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001989 Early severe fetal akinesia sequence 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002375 Hypokinesia 
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 HP:0002878 Early respiratory failure 
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 HP:0003715 Muscle biopsy shows myofibrillar myopathy 
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 HP:0003798 Nemaline bodies "Nemaline rods are abnormal bodies are abnormal that can occur in skeletal muscle fibers. THe rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, pmid:11333380]
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 HP:0010628 Facial muscle weakness "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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