Gene Gene information from NCBI Gene database.
Entrez ID 5163
Gene name Pyruvate dehydrogenase kinase 1
Gene symbol PDK1
Synonyms (NCBI Gene)
-
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
miRNA miRNA information provided by mirtarbase database.
340
miRTarBase ID miRNA Experiments Reference
MIRT000055 hsa-miR-375 ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 21533613
MIRT000055 hsa-miR-375 Western blot 20215506
MIRT020770 hsa-miR-155-5p Proteomics 18668040
MIRT029318 hsa-miR-26b-5p Microarray 19088304
MIRT032356 hsa-let-7b-5p Proteomics 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
JUN Unknown 19910471
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IDA 17683942
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity TAS 7499431
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
602524 8809 ENSG00000152256
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF10436 BCDHK_Adom3 56 220 Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase Family
PF02518 HATPase_c 268 393 Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in the heart. Detected at lower levels in liver, skeletal muscle and pancreas. {ECO:0000269|PubMed:7499431}.
Sequence
Sequence length 436
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  HIF-1 signaling pathway
Central carbon metabolism in cancer
  Regulation of pyruvate dehydrogenase (PDH) complex
Signaling by Retinoic Acid
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Aggressive Periodontitis Inhibit 19892919
★☆☆☆☆
Found in Text Mining only
Altitude Sickness Inhibit 18954447
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 28831118
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Associate 31234900
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Associate 37528722
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 15504738, 16288304, 23562764, 24739482
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Stimulate 28505181
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 25257795, 26684827
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Associate 23435205, 29967001
★☆☆☆☆
Found in Text Mining only
Carcinoma Endometrioid Associate 29967001
★☆☆☆☆
Found in Text Mining only