ENSMUSG00000030802


Mus musculus

Features
Gene ID: ENSMUSG00000030802
  
Biological name :Bckdk
  
Synonyms : [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial / Bckdk / O55028
  
Possible biological names infered from orthology : branched chain ketoacid dehydrogenase kinase / O14874
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F3
Gene start: 127904082
Gene end: 127910221
  
Corresponding Affymetrix probe sets: 10557816 (MoGene1.0st)   1443813_x_at (Mouse Genome 430 2.0 Array)   1460644_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000070345
Ensembl peptide - ENSMUSP00000146303
Ensembl peptide - ENSMUSP00000146249
Ensembl peptide - ENSMUSP00000146115
Ensembl peptide - ENSMUSP00000145617
Ensembl peptide - ENSMUSP00000116990
NCBI entrez gene - 12041     See in Manteia.
MGI - MGI:1276121
RefSeq - NM_009739
RefSeq Peptide - NP_033869
swissprot - A0A0U1RPT4
swissprot - A0A0U1RNL7
swissprot - O55028
swissprot - D3Z7R0
swissprot - Q3UCB5
swissprot - A0A0U1RQ97
swissprot - A0A0U1RQ50
Ensembl - ENSMUSG00000030802
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bckdkENSDARG00000016904Danio rerio
 BCKDKENSG00000103507Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pdk1 / Q8BFP9 / [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial / Q15118* / pyruvate dehydrogenase kinase 1*ENSMUSG0000000649429
Pdk4 / O70571 / pyruvate dehydrogenase kinase, isoenzyme 4 / Q16654* / pyruvate dehydrogenase kinase 4*ENSMUSG0000001957727
Pdk2 / Q9JK42 / [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial / Q15119* / pyruvate dehydrogenase kinase 2*ENSMUSG0000003896727
Pdk3 / Q922H2 / pyruvate dehydrogenase kinase, isoenzyme 3 / Q15120* / pyruvate dehydrogenase kinase 3*ENSMUSG0000003523226


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:0009083 branched-chain amino acid catabolic process IEA
 biological_processGO:0016310 phosphorylation ISS
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IDA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0005524 ATP binding ISS
 molecular_functionGO:0016301 kinase activity IEA
 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 IEA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0001360 abnormal social investigation "altered behavior of animals to approach and examine other animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc7a5tm1.1Daca/Slc7a5tm1.1Daca,Tg(Tek-cre)12Flv/0
Genetic Background: B6J.Cg-Slc7a5tm1.1Daca Tg(Tek-cre)12Flv

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Slc7a5tm1.1Daca/Slc7a5tm1.1Daca,Tg(Tek-cre)12Flv/0
Genetic Background: B6J.Cg-Slc7a5tm1.1Daca Tg(Tek-cre)12Flv

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Slc7a5tm1.1Daca/Slc7a5tm1.1Daca,Tg(Tek-cre)12Flv/0
Genetic Background: B6J.Cg-Slc7a5tm1.1Daca Tg(Tek-cre)12Flv

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

Allelic Composition: BckdkGt(OST79912)Lex/BckdkGt(OST79912)Lex
Genetic Background: involves: 129S5/SvEvBrd

 MP:0001407 short stride length "reduced average distance between steps" [J:34193]
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Allelic Composition: BckdkGt(OST79912)Lex/BckdkGt(OST79912)Lex
Genetic Background: involves: 129S5/SvEvBrd

 MP:0001510 abnormal coat appearance "coat that looks different from the usual state " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0001961 abnormal reflex "anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: BckdkGt(OST79912)Lex/BckdkGt(OST79912)Lex
Genetic Background: involves: 129S5/SvEvBrd

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0003860 abnormal carbon dioxide level "anomalous concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0003917 increased kidney weight "greater heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
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Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0003997 tonic-clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0004232 decreased muscle weight "less than average muscle weight" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: BckdkGt(OST79912)Lex/BckdkGt(OST79912)Lex
Genetic Background: involves: 129S5/SvEvBrd

 MP:0005311 abnormal circulating amino acid level "aberrant concentration in the blood of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:83263]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

Allelic Composition: BckdkGt(OST79912)Lex/BckdkGt(OST79912)Lex
Genetic Background: involves: 129S5/SvEvBrd

 MP:0005332 abnormal amino acid level "aberrant concentration of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

Allelic Composition: BckdkGt(OST79912)Lex/BckdkGt(OST79912)Lex
Genetic Background: involves: 129S5/SvEvBrd

 MP:0009435 abnormal miniature inhibitory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: BckdkGt(OST79912)Lex/BckdkGt(OST79912)Lex
Genetic Background: involves: 129S5/SvEvBrd

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0011084 partial lethality at weaning "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age" [MGI:csmith]
Show

Allelic Composition: Ren1tm1Bjm/Ren1tm1Bjm
Genetic Background: B6(Cg)-Ren1tm1Bjm

 MP:0013242 abnormal amino acid metabolism "any anomaly in the chemical reactions and pathways involving an amino acid, including metabolic, catabolic and biosynthetic processes" [MPD:Molly]
Show

Allelic Composition: BckdkGt(OST79912)Lex/BckdkGt(OST79912)Lex
Genetic Background: involves: 129S5/SvEvBrd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000340 Dbt / P53395 / Mus musculus dihydrolipoamide branched chain transacylase E2 (Dbt), transcript variant 2, mRNA. / P11182* / dihydrolipoamide branched chain transacylase E2*  / reaction
 ENSMUSG00000032263 Bckdhb / Q6P3A8 / 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial / P21953* / branched chain keto acid dehydrogenase E1 subunit beta*  / reaction
 ENSMUSG00000020664 Dld / O08749 / Dihydrolipoyl dehydrogenase, mitochondrial / P09622* / dihydrolipoamide dehydrogenase*  / reaction
 ENSMUSG00000060376 Bckdha / branched chain ketoacid dehydrogenase E1, alpha polypeptide / P12694* / branched chain keto acid dehydrogenase E1, alpha polypeptide*  / reaction






 

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