Homo sapiens Protein: PDK3 | |||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||
InnateDB Protein | IDBP-365761.3 | ||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||
Gene Symbol | PDK3 | ||||||||||||||||||||||||||
Protein Name | pyruvate dehydrogenase kinase, isozyme 3 | ||||||||||||||||||||||||||
Synonyms | CMTX6; GS1-358P8.4; | ||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||
Ensembl Protein | ENSP00000387536 | ||||||||||||||||||||||||||
InnateDB Gene | IDBG-52915 (PDK3) | ||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||
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 response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species. {ECO:0000269PubMed:10748134, ECO:0000269PubMed:11486000, ECO:0000269PubMed:15861126, ECO:0000269PubMed:16436377, ECO:0000269PubMed:17683942, ECO:0000269PubMed:18718909, ECO:0000269PubMed:22865452}. | ||||||||||||||||||||||||||
Subcellular Localization | Mitochondrion matrix. | ||||||||||||||||||||||||||
Disease Associations | Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. {ECO:0000269PubMed:23297365}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||
Tissue Specificity | Expressed in heart, skeletal muscle, spinal cord, as well as fetal and adult brain. {ECO:0000269PubMed:23297365}. | ||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||
InterPro |
IPR003594
Histidine kinase-like ATPase, C-terminal domain IPR005467 Signal transduction histidine kinase, core IPR018955 Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal |
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PFAM |
PF02518
PF13581 PF10436 |
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PRINTS | |||||||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||||||
SMART |
SM00387
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TIGRFAMs | |||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||
SwissProt | Q15120 | ||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q15120 | ||||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | 5165 | ||||||||||||||||||||||||||
UniGene | Hs.666585 | ||||||||||||||||||||||||||
RefSeq | NP_001135858 | ||||||||||||||||||||||||||
HUGO | HGNC:8811 | ||||||||||||||||||||||||||
OMIM | 300906 | ||||||||||||||||||||||||||
CCDS | CCDS48088 | ||||||||||||||||||||||||||
HPRD | 03956 | ||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | AK301965 BC015948 CH471074 L42452 | ||||||||||||||||||||||||||
GenPept | AAC42011 AAH15948 BAG63378 EAW99019 | ||||||||||||||||||||||||||