ENSG00000103507


Homo sapiens

Features
Gene ID: ENSG00000103507
  
Biological name :BCKDK
  
Synonyms : BCKDK / branched chain ketoacid dehydrogenase kinase / O14874
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p11.2
Gene start: 31106107
Gene end: 31112791
  
Corresponding Affymetrix probe sets: 202030_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457226
Ensembl peptide - ENSP00000456479
Ensembl peptide - ENSP00000457821
Ensembl peptide - ENSP00000219794
Ensembl peptide - ENSP00000287507
Ensembl peptide - ENSP00000378404
Ensembl peptide - ENSP00000378405
Ensembl peptide - ENSP00000454947
Ensembl peptide - ENSP00000455866
NCBI entrez gene - 10295     See in Manteia.
OMIM - 614901
RefSeq - XM_017022859
RefSeq - NM_001122957
RefSeq - NM_001271926
RefSeq - NM_005881
RefSeq Peptide - NP_005872
RefSeq Peptide - NP_001116429
RefSeq Peptide - NP_001258855
swissprot - A0A024QZA9
swissprot - H3BNP3
swissprot - H3BQP2
swissprot - H3BTL2
swissprot - H3BS02
swissprot - H3BUV3
swissprot - O14874
Ensembl - ENSG00000103507
  
Related genetic diseases (OMIM): 614923 - Branched-chain ketoacid dehydrogenase kinase deficiency, 614923
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
 bckdkENSDARG00000016904Danio rerio
 BckdkENSMUSG00000030802Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PDK1 / Q15118 / pyruvate dehydrogenase kinase 1ENSG0000015225628
PDK4 / Q16654 / pyruvate dehydrogenase kinase 4ENSG0000000479926
PDK2 / Q15119 / pyruvate dehydrogenase kinase 2ENSG0000000588226
PDK3 / Q15120 / pyruvate dehydrogenase kinase 3ENSG0000006799226


Protein motifs (from Interpro)
Interpro ID Name
 IPR003594  Histidine kinase/HSP90-like ATPase
 IPR004358  Signal transduction histidine kinase-related protein, C-terminal
 IPR005467  Histidine kinase domain
 IPR018955  Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal
 IPR036784  Alpha-ketoacid/pyruvate dehydrogenase kinase, N-terminal domain superfamily
 IPR036890  Histidine kinase/HSP90-like ATPase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0009063 cellular amino acid catabolic process NAS
 biological_processGO:0009083 branched-chain amino acid catabolic process TAS
 biological_processGO:0016310 phosphorylation TAS
 cellular_componentGO:0005739 mitochondrion TAS
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding ISS
 molecular_functionGO:0016301 kinase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016772 transferase activity, transferring phosphorus-containing groups IEA
 molecular_functionGO:0047323 [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity TAS


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000717 Autism 
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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:0010892 Abnormality of branched chain family amino acid metabolism "Abnormality of a `branched chain family amino acid metabolic process` (GO:0009081)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000091140 DLD / P09622 / dihydrolipoamide dehydrogenase  / reaction
 ENSG00000248098 BCKDHA / P12694 / branched chain keto acid dehydrogenase E1, alpha polypeptide  / reaction
 ENSG00000083123 BCKDHB / P21953 / branched chain keto acid dehydrogenase E1 subunit beta  / reaction
 ENSG00000137992 DBT / P11182 / dihydrolipoamide branched chain transacylase E2  / reaction






 

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