ENSG00000067992


Homo sapiens

Features
Gene ID: ENSG00000067992
  
Biological name :PDK3
  
Synonyms : PDK3 / pyruvate dehydrogenase kinase 3 / Q15120
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p22.11
Gene start: 24465221
Gene end: 24539837
  
Corresponding Affymetrix probe sets: 206347_at (Human Genome U133 Plus 2.0 Array)   206348_s_at (Human Genome U133 Plus 2.0 Array)   221957_at (Human Genome U133 Plus 2.0 Array)   230085_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368460
Ensembl peptide - ENSP00000387536
NCBI entrez gene - 5165     See in Manteia.
OMIM - 300906
RefSeq - NM_001142386
RefSeq - NM_005391
RefSeq Peptide - NP_001135858
RefSeq Peptide - NP_005382
swissprot - Q15120
Ensembl - ENSG00000067992
  
Related genetic diseases (OMIM): 300905 - ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905
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
 pdk3aENSDARG00000014527Danio rerio
 pdk3bENSDARG00000099791Danio rerio
 PDK3ENSGALG00000016323Gallus gallus
 Pdk3ENSMUSG00000035232Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PDK1 / Q15118 / pyruvate dehydrogenase kinase 1ENSG0000015225667
PDK2 / Q15119 / pyruvate dehydrogenase kinase 2ENSG0000000588265
PDK4 / Q16654 / pyruvate dehydrogenase kinase 4ENSG0000000479960
BCKDK / O14874 / branched chain ketoacid dehydrogenase kinaseENSG0000010350726


Protein motifs (from Interpro)
Interpro ID Name
 IPR003594  Histidine kinase/HSP90-like ATPase
 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:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006006 glucose metabolic process IEA
 biological_processGO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate IMP
 biological_processGO:0010906 regulation of glucose metabolic process IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation IDA
 biological_processGO:0035357 peroxisome proliferator activated receptor signaling pathway IMP
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 biological_processGO:0071398 cellular response to fatty acid IMP
 biological_processGO:0097411 hypoxia-inducible factor-1alpha signaling pathway IMP
 biological_processGO:2000377 regulation of reactive oxygen species metabolic process IMP
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005739 mitochondrion TAS
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IDA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IDA
 molecular_functionGO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
Regulation of pyruvate dehydrogenase (PDH) complex
Signaling by Retinoic Acid


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000110435 PDHX / O00330 / pyruvate dehydrogenase complex component X  / reaction
 ENSG00000163114 PDHA2 / P29803 / pyruvate dehydrogenase E1 alpha 2 subunit  / reaction
 ENSG00000131828 PDHA1 / P08559 / pyruvate dehydrogenase E1 alpha 1 subunit  / reaction
 ENSG00000168291 PDHB / P11177 / pyruvate dehydrogenase E1 beta subunit  / reaction
 ENSG00000091140 DLD / P09622 / dihydrolipoamide dehydrogenase  / reaction
 ENSG00000150768 DLAT / P10515 / dihydrolipoamide S-acetyltransferase  / reaction






 

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