ENSG00000115361


Homo sapiens

Features
Gene ID: ENSG00000115361
  
Biological name :ACADL
  
Synonyms : ACADL / acyl-CoA dehydrogenase long chain / P28330
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q34
Gene start: 210187939
Gene end: 210225491
  
Corresponding Affymetrix probe sets: 206068_s_at (Human Genome U133 Plus 2.0 Array)   206069_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000233710
NCBI entrez gene - 33     See in Manteia.
OMIM - 609576
RefSeq - XM_017003955
RefSeq - NM_001608
RefSeq - XM_005246517
RefSeq Peptide - NP_001599
swissprot - P28330
Ensembl - ENSG00000115361
  
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
 acadlENSDARG00000088357Danio rerio
 ACADLENSGALG00000002891Gallus gallus
 AcadlENSMUSG00000026003Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACADS / P16219 / acyl-CoA dehydrogenase short chainENSG0000012297131
IVD / P26440 / isovaleryl-CoA dehydrogenaseENSG0000012892831
ACADM / P11310 / acyl-CoA dehydrogenase medium chainENSG0000011705429
ACADSB / P45954 / acyl-CoA dehydrogenase short/branched chainENSG0000019617729
ACAD8 / Q9UKU7 / acyl-CoA dehydrogenase family member 8ENSG0000015149829
ACAD9 / Q9H845 / acyl-CoA dehydrogenase family member 9ENSG0000017764627
ACADVL / P49748 / acyl-CoA dehydrogenase very long chainENSG0000007277827
GCDH / Q92947 / glutaryl-CoA dehydrogenaseENSG0000010560725


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
 IPR034179  Long-chain specific acyl-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:0001659 temperature homeostasis ISS
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006635 fatty acid beta-oxidation TAS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0019254 carnitine metabolic process, CoA-linked ISS
 biological_processGO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IEA
 biological_processGO:0042413 carnitine catabolic process ISS
 biological_processGO:0042758 long-chain fatty acid catabolic process IEA
 biological_processGO:0044242 cellular lipid catabolic process ISS
 biological_processGO:0045717 negative regulation of fatty acid biosynthetic process ISS
 biological_processGO:0046322 negative regulation of fatty acid oxidation ISS
 biological_processGO:0051289 protein homotetramerization IEA
 biological_processGO:0055114 oxidation-reduction process ISS
 biological_processGO:0090181 regulation of cholesterol metabolic process ISS
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0031966 mitochondrial membrane IEA
 molecular_functionGO:0000062 fatty-acyl-CoA binding IEA
 molecular_functionGO:0003995 acyl-CoA dehydrogenase activity TAS
 molecular_functionGO:0004466 long-chain-acyl-CoA dehydrogenase activity TAS
 molecular_functionGO:0016401 palmitoyl-CoA oxidase activity ISS
 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
Beta oxidation of myristoyl-CoA to lauroyl-CoA
mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000729 Pervasive developmental disorder 
Show

 HP:0001254 Lethargy 
Show

 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
Show

 HP:0001397 Hepatic steatosis 
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 HP:0001404 Hepatocellular necrosis 
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0001645 Sudden cardiac death 
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 HP:0001657 Prolonged QT interval on EKG 
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 HP:0001958 Nonketotic hypoglycemia 
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 HP:0001987 Hyperammonemia 
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 HP:0002013 Vomiting 
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 HP:0002045 Hypothermia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002789 Tachypnea 
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 HP:0003215 Dicarboxylic aciduria 
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 HP:0003234 Decreased plasma carnitine 
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
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 HP:0003458 EMG myopathic abnormalities "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators]
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 HP:0003473 Mild-moderate fatigable weakness of limb muscles 
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 HP:0003552 Muscle stiffness 
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 HP:0004749 Atrial fibrillation or flutter 
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 HP:0006579 Prolonged neonatal jaundice 
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 HP:0008305 Myoglobinuria, exercise-induced 
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 HP:0008331 Elevated creatine kinase after exercise 
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 HP:0009045 Rhabdomyolysis with exercise 
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 HP:0011346 Mild expressive language delay "A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [DDD:hvfirth]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0100950 Long chain 3 hydroxyacyl coA dehydrogenase deficiency 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000115361 ACADL / P28330 / acyl-CoA dehydrogenase long chain  / complex






 

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