Gene Gene information from NCBI Gene database.
Entrez ID 5165
Gene name Pyruvate dehydrogenase kinase 3
Gene symbol PDK3
Synonyms (NCBI Gene)
CMTX6GS1-358P8.4
Chromosome X
Chromosome location Xp22.11
Summary The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cyc
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs138321172 A>G Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs397515323 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1616
miRTarBase ID miRNA Experiments Reference
MIRT708958 hsa-miR-181a-5p HITS-CLIP 19536157
MIRT708957 hsa-miR-181b-5p HITS-CLIP 19536157
MIRT708956 hsa-miR-181c-5p HITS-CLIP 19536157
MIRT708955 hsa-miR-181d-5p HITS-CLIP 19536157
MIRT708954 hsa-miR-4262 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IDA 15861126
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IDA 11486000
GO:0004740 Function Pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300906 8811 ENSG00000067992
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15120
Protein name [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 3)
Protein function Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in re
PDB 1Y8N , 1Y8O , 1Y8P , 2PNR , 2Q8I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10436 BCDHK_Adom3 26 188 Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase Family
PF02518 HATPase_c 236 362 Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, spinal cord, as well as fetal and adult brain. {ECO:0000269|PubMed:23297365}.
Sequence
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Diabetic cardiomyopathy   Regulation of pyruvate dehydrogenase (PDH) complex
Signaling by Retinoic Acid
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
178
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Charcot-Marie-Tooth disease X-linked dominant 6 Pathogenic rs2518590189 RCV003129578
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Charcot-Marie-Tooth disease Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign rs138321172, rs372774822, rs146331370, rs1602114620, rs1922715641, rs766469321, rs374771377, rs756028485, rs1922654884 RCV001173742
RCV001173909
RCV001173738
RCV001173740
RCV001173739
RCV001173744
RCV001173910
RCV001173741
RCV001173743
RCV001173737
Malignant lymphoma, large B-cell, diffuse Benign rs60485760 RCV005916859
PDK3-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs374771377, rs138321172, rs371137355 RCV003929482
RCV003912670
RCV003925688
Uterine carcinosarcoma Benign rs60485760 RCV005916860
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37576511
Carcinoma Renal Cell Associate 37147361
Charcot Marie Tooth disease X linked 1 Associate 23297365, 32504000
Endometriosis Associate 36930359
Hyperkinesis Associate 23297365
Hypoxia Stimulate 18718909
Kidney Neoplasms Associate 37147361
Metabolic Diseases Associate 32504000
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport Associate 32504000
Mouth Neoplasms Associate 31638999