PDK1 (pyruvate dehydrogenase kinase 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 5163 |
| Gene name | Pyruvate dehydrogenase kinase 1 |
| Gene symbol | PDK1 |
| Synonyms (NCBI Gene) |
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| Chromosome | 2 |
| Chromosome location | 2q31.1 |
| Summary | Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic acti |
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miRNA
miRNA information provided by mirtarbase database.
340
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Transcription factors
Transcription factors information provided by TRRUST V2 database.
1
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q15118 | |||||||||||||||
| Protein name | [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 1) (PDH kinase 1) | |||||||||||||||
| Protein function | Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2 (PubMed:7499431, PubMed:18541534, PubMed:22195962, PubMed:26942675, PubMed | |||||||||||||||
| PDB | 2Q8F , 2Q8G , 2Q8H | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed predominantly in the heart. Detected at lower levels in liver, skeletal muscle and pancreas. {ECO:0000269|PubMed:7499431}. | |||||||||||||||
| Sequence |
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| Sequence length | 436 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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