ENSG00000248098


Homo sapiens

Features
Gene ID: ENSG00000248098
  
Biological name :BCKDHA
  
Synonyms : BCKDHA / branched chain keto acid dehydrogenase E1, alpha polypeptide / P12694
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.2
Gene start: 41397460
Gene end: 41425005
  
Corresponding Affymetrix probe sets: 202331_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000416000
Ensembl peptide - ENSP00000440345
Ensembl peptide - ENSP00000445727
Ensembl peptide - ENSP00000445809
Ensembl peptide - ENSP00000269980
NCBI entrez gene - 593     See in Manteia.
OMIM - 608348
RefSeq - NM_000709
RefSeq - NM_001164783
RefSeq Peptide - NP_000700
RefSeq Peptide - NP_001158255
swissprot - P12694
swissprot - A0A024R0K3
swissprot - F5GXU9
swissprot - H0YH20
swissprot - H0YH31
Ensembl - ENSG00000248098
  
Related genetic diseases (OMIM): 248600 - Maple syrup urine disease, type Ia, 248600
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
 bckdhaENSDARG00000040555Danio rerio
 BckdhaENSMUSG00000060376Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC011462.1ENSG0000025573092
PDHA2 / P29803 / pyruvate dehydrogenase E1 alpha 2 subunitENSG0000016311422
PDHA1 / P08559 / pyruvate dehydrogenase E1 alpha 1 subunitENSG0000013182822


Protein motifs (from Interpro)
Interpro ID Name
 IPR001017  Dehydrogenase, E1 component
 IPR029061  Thiamin diphosphate-binding fold
 IPR034616  2-oxoisovalerate dehydrogenase subunit alpha


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009083 branched-chain amino acid catabolic process IEA
 biological_processGO:0034641 cellular nitrogen compound metabolic process TAS
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005739 mitochondrion TAS
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex IDA
 molecular_functionGO:0003826 alpha-ketoacid dehydrogenase activity IEA
 molecular_functionGO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor IEA
 molecular_functionGO:0016831 carboxy-lyase activity TAS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Glyoxylate metabolism and glycine degradation
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:0000738 Hallucinations 
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 HP:0001249 Mental retardation 
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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:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [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:0001254 Lethargy 
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 HP:0001259 Coma 
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 HP:0001276 Hypertonia 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001507 Growth abnormality 
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 HP:0001733 Pancreatitis 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0001946 Ketosis 
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 HP:0002013 Vomiting 
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 HP:0002181 Cerebral edema "Abnormal accumulation of fluid in the brain." [HPO:curators]
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 HP:0003128 Lactic acidemia "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson]
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 HP:0008344 Elevated plasma branched chain amino acids 
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 HP:0008872 Feeding problems in infancy 
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 HP:0410066 Increased level of hippuric acid in urine "An increase in the level of hippuric acid in the urine." [PMID:19551947, PMID:22626821]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000091140 DLD / P09622 / dihydrolipoamide dehydrogenase  / complex
 ENSG00000103507 BCKDK / O14874 / branched chain ketoacid dehydrogenase kinase  / reaction
 ENSG00000083123 BCKDHB / P21953 / branched chain keto acid dehydrogenase E1 subunit beta  / complex
 ENSG00000137992 DBT / P11182 / dihydrolipoamide branched chain transacylase E2  / complex
 ENSG00000140905 GCSH / P23434 / glycine cleavage system protein H  / reaction
 ENSG00000248098 BCKDHA / P12694 / branched chain keto acid dehydrogenase E1, alpha polypeptide  / complex
 ENSG00000163644 PPM1K / Q8N3J5 / protein phosphatase, Mg2+/Mn2+ dependent 1K  / reaction






 

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