ENSG00000196177


Homo sapiens

Features
Gene ID: ENSG00000196177
  
Biological name :ACADSB
  
Synonyms : ACADSB / acyl-CoA dehydrogenase short/branched chain / P45954
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q26.13
Gene start: 123008979
Gene end: 123058311
  
Corresponding Affymetrix probe sets: 205355_at (Human Genome U133 Plus 2.0 Array)   226030_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357873
Ensembl peptide - ENSP00000357862
NCBI entrez gene - 36     See in Manteia.
OMIM - 600301
RefSeq - XM_017016194
RefSeq - NM_001330174
RefSeq - NM_001609
RefSeq Peptide - NP_001317103
RefSeq Peptide - NP_001600
swissprot - P45954
swissprot - A0A0S2Z3P9
Ensembl - ENSG00000196177
  
Related genetic diseases (OMIM): 610006 - 2-methylbutyrylglycinuria, 610006
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
 acadsbENSDARG00000076780Danio rerio
 ACADSBENSGALG00000041417Gallus gallus
 AcadsbENSMUSG00000030861Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACADS / P16219 / acyl-CoA dehydrogenase short chainENSG0000012297137
ACADM / P11310 / acyl-CoA dehydrogenase medium chainENSG0000011705434
ACAD9 / Q9H845 / acyl-CoA dehydrogenase family member 9ENSG0000017764633
ACAD8 / Q9UKU7 / acyl-CoA dehydrogenase family member 8ENSG0000015149832
IVD / P26440 / isovaleryl-CoA dehydrogenaseENSG0000012892831
ACADVL / P49748 / acyl-CoA dehydrogenase very long chainENSG0000007277831
ACADL / P28330 / acyl-CoA dehydrogenase long chainENSG0000011536129
GCDH / Q92947 / glutaryl-CoA dehydrogenaseENSG0000010560727


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
 IPR036250  Acyl-CoA dehydrogenase-like, C-terminal
 IPR037069  Acyl-CoA dehydrogenase/oxidase, N-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid 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 TAS
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 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:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000577 Exotropia 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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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:0001254 Lethargy 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001270 Motor retardation 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0002045 Hypothermia 
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 HP:0003593 Early onset 
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 HP:0003700 Generalized amyotrophy "Generalized wasting of loss of muscle tissue." [HPO:curators]
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 HP:0005949 Apneic episodes in infancy "Recurrent episodes of apnea occurring during infancy." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000196177 ACADSB / P45954 / acyl-CoA dehydrogenase short/branched chain  / complex






 

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