ENSG00000151498


Homo sapiens

Features
Gene ID: ENSG00000151498
  
Biological name :ACAD8
  
Synonyms : ACAD8 / acyl-CoA dehydrogenase family member 8 / Q9UKU7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q25
Gene start: 134253495
Gene end: 134265855
  
Corresponding Affymetrix probe sets: 221669_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431310
Ensembl peptide - ENSP00000431532
Ensembl peptide - ENSP00000281182
Ensembl peptide - ENSP00000363884
NCBI entrez gene - 27034     See in Manteia.
OMIM - 604773
RefSeq - XM_017017549
RefSeq - XM_017017545
RefSeq - XM_017017546
RefSeq - XM_017017547
RefSeq - XM_017017548
RefSeq - NM_014384
RefSeq - XM_005271505
RefSeq - XM_011542750
RefSeq - XM_017017542
RefSeq - XM_017017543
RefSeq - XM_017017544
RefSeq Peptide - NP_055199
swissprot - E9PLS3
swissprot - E9PKP9
swissprot - Q9UKU7
Ensembl - ENSG00000151498
  
Related genetic diseases (OMIM): 611283 - Isobutyryl-CoA dehydrogenase deficiency, 611283
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
 acad8ENSDARG00000042658Danio rerio
 ACAD8ENSGALG00000001557Gallus gallus
 Acad8ENSMUSG00000031969Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACADS / P16219 / acyl-CoA dehydrogenase short chainENSG0000012297134
ACADSB / P45954 / acyl-CoA dehydrogenase short/branched chainENSG0000019617733
ACADM / P11310 / acyl-CoA dehydrogenase medium chainENSG0000011705431
IVD / P26440 / isovaleryl-CoA dehydrogenaseENSG0000012892830
ACAD9 / Q9H845 / acyl-CoA dehydrogenase family member 9ENSG0000017764630
ACADL / P28330 / acyl-CoA dehydrogenase long chainENSG0000011536130
ACADVL / P49748 / acyl-CoA dehydrogenase very long chainENSG0000007277828
GCDH / Q92947 / glutaryl-CoA dehydrogenaseENSG0000010560726


Protein motifs (from Interpro)
Interpro ID Name
 IPR006089  Acyl-CoA dehydrogenase, conserved site
 IPR006091  Acyl-CoA oxidase/dehydrogenase, central domain
 IPR009075  Acyl-CoA dehydrogenase/oxidase C-terminal
 IPR009100  Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain superfamily
 IPR013786  Acyl-CoA dehydrogenase/oxidase, N-terminal
 IPR034178  Isobutyryl-CoA dehydrogenase
 IPR036250  Acyl-CoA dehydrogenase-like, C-terminal
 IPR037069  Acyl-CoA dehydrogenase/oxidase, N-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006574 valine catabolic process IEA
 biological_processGO:0006629 lipid metabolic process TAS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009083 branched-chain amino acid catabolic process TAS
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0003995 acyl-CoA dehydrogenase activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA
 molecular_functionGO:0050660 flavin adenine dinucleotide binding IEA


Pathways (from Reactome)
Pathway description
Branched-chain amino acid catabolism


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:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0001903 Anemia 
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 HP:0003234 Decreased plasma carnitine 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000151498 ACAD8 / Q9UKU7 / acyl-CoA dehydrogenase family member 8  / complex






 

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