Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5165
Gene name Gene Name - the full gene name approved by the HGNC.
Pyruvate dehydrogenase kinase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDK3
Synonyms (NCBI Gene) Gene synonyms aliases
CMTX6, GS1-358P8.4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMTX6
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.11
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004672 Function Protein kinase activity IDA 15861126
GO:0004674 Function Protein serine/threonine kinase activity IDA 11486000
GO:0004740 Function Pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA 21873635
GO:0004740 Function Pyruvate dehydrogenase (acetyl-transferring) kinase activity IDA 11486000
GO:0005515 Function Protein binding IPI 15861126, 17683942, 28514442
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300906 8811 ENSG00000067992
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Charcot-marie-tooth disease, x-linked CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, X-linked Charcot-Marie-Tooth disease type 6 rs80338731, rs80338732, rs104894810, rs104894811, rs104894812, rs104894813, rs104894814, rs104894817, rs104894818, rs104894819, rs104894820, rs104894821, rs104894822, rs104894824, rs2147483647
View all (77 more)
23297365
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Polyneuropathy Polyneuropathy rs1597597437
Unknown
Disease term Disease name Evidence References Source
Insomnia Insomnia GWAS
Associations from Text Mining
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