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PDK1 (pyruvate dehydrogenase kinase 1)

Identity

Alias (NCBI)-
HGNC (Hugo) PDK1
HGNC Previous namepyruvate dehydrogenase kinase, isoenzyme 1
 pyruvate dehydrogenase kinase, isozyme 1
LocusID (NCBI) 5163
Atlas_Id 43405
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 172556090 and ends at 172608669 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PDK1 (2q31.1) / DLX2 (2q31.1)SENP6 (6q14.1) / PDK1 (2q31.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

Nomenclature
HGNC (Hugo)PDK1   8809
Cards
Entrez_Gene (NCBI)PDK1    pyruvate dehydrogenase kinase 1
Aliases
GeneCards (Weizmann)PDK1
Ensembl hg19 (Hinxton)ENSG00000152256 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152256 [Gene_View]  ENSG00000152256 [Sequence]  chr2:172556090-172608669 [Contig_View]  PDK1 [Vega]
ICGC DataPortalENSG00000152256
TCGA cBioPortalPDK1
AceView (NCBI)PDK1
Genatlas (Paris)PDK1
SOURCE (Princeton)PDK1
Genetics Home Reference (NIH)PDK1
Genomic and cartography
GoldenPath hg38 (UCSC)PDK1  -     chr2:172556090-172608669 +  2q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDK1  -     2q31.1   [Description]    (hg19-Feb_2009)
GoldenPathPDK1 - 2q31.1 [CytoView hg19]  PDK1 - 2q31.1 [CytoView hg38]
ImmunoBaseENSG00000152256
genome Data Viewer NCBIPDK1 [Mapview hg19]  
OMIM602524   
Gene and transcription
Genbank (Entrez)AK056110 AK294194 AK302321 AK304388 AK312700
RefSeq transcript (Entrez)NM_001278549 NM_002610
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDK1
Alternative Splicing GalleryENSG00000152256
Gene ExpressionPDK1 [ NCBI-GEO ]   PDK1 [ EBI - ARRAY_EXPRESS ]   PDK1 [ SEEK ]   PDK1 [ MEM ]
Gene Expression Viewer (FireBrowse)PDK1 [ Firebrowse - Broad ]
GenevisibleExpression of PDK1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5163
GTEX Portal (Tissue expression)PDK1
Human Protein AtlasENSG00000152256-PDK1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15118   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15118  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15118
Splice isoforms : SwissVarQ15118
Catalytic activity : Enzyme2.7.11.2 [ Enzyme-Expasy ]   2.7.11.22.7.11.2 [ IntEnz-EBI ]   2.7.11.2 [ BRENDA ]   2.7.11.2 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ15118
Domaine pattern : Prosite (Expaxy)HIS_KIN (PS50109)   
Domains : Interpro (EBI)AK/P_DHK_N_sf    BCDHK/PDK_N    BCKD/PDK    HATPase_C    HATPase_C_sf    His_kinase_dom   
Domain families : Pfam (Sanger)BCDHK_Adom3 (PF10436)    HATPase_c (PF02518)   
Domain families : Pfam (NCBI)pfam10436    pfam02518   
Domain families : Smart (EMBL)HATPase_c (SM00387)  
Conserved Domain (NCBI)PDK1
Blocks (Seattle)PDK1
PDB (RSDB)2Q8F    2Q8G    2Q8H   
PDB Europe2Q8F    2Q8G    2Q8H   
PDB (PDBSum)2Q8F    2Q8G    2Q8H   
PDB (IMB)2Q8F    2Q8G    2Q8H   
Structural Biology KnowledgeBase2Q8F    2Q8G    2Q8H   
SCOP (Structural Classification of Proteins)2Q8F    2Q8G    2Q8H   
CATH (Classification of proteins structures)2Q8F    2Q8G    2Q8H   
SuperfamilyQ15118
Human Protein Atlas [tissue]ENSG00000152256-PDK1 [tissue]
Peptide AtlasQ15118
HPRD03954
IPIIPI00014831   IPI01015681   IPI00917984   IPI00655704   IPI00917849   IPI00917149   IPI00915816   
Protein Interaction databases
DIP (DOE-UCLA)Q15118
IntAct (EBI)Q15118
BioGRIDPDK1
STRING (EMBL)PDK1
ZODIACPDK1
Ontologies - Pathways
QuickGOQ15118
Ontology : AmiGOprotein kinase activity  pyruvate dehydrogenase (acetyl-transferring) kinase activity  pyruvate dehydrogenase (acetyl-transferring) kinase activity  pyruvate dehydrogenase (acetyl-transferring) kinase activity  protein binding  ATP binding  mitochondrion  mitochondrial matrix  mitochondrial pyruvate dehydrogenase complex  glucose metabolic process  protein phosphorylation  protein phosphorylation  cell population proliferation  intrinsic apoptotic signaling pathway in response to oxidative stress  regulation of acetyl-CoA biosynthetic process from pyruvate  regulation of glucose metabolic process  regulation of glucose metabolic process  hypoxia-inducible factor-1alpha signaling pathway  
Ontology : EGO-EBIprotein kinase activity  pyruvate dehydrogenase (acetyl-transferring) kinase activity  pyruvate dehydrogenase (acetyl-transferring) kinase activity  pyruvate dehydrogenase (acetyl-transferring) kinase activity  protein binding  ATP binding  mitochondrion  mitochondrial matrix  mitochondrial pyruvate dehydrogenase complex  glucose metabolic process  protein phosphorylation  protein phosphorylation  cell population proliferation  intrinsic apoptotic signaling pathway in response to oxidative stress  regulation of acetyl-CoA biosynthetic process from pyruvate  regulation of glucose metabolic process  regulation of glucose metabolic process  hypoxia-inducible factor-1alpha signaling pathway  
Pathways : KEGGHIF-1 signaling pathway   
NDEx NetworkPDK1
Atlas of Cancer Signalling NetworkPDK1
Wikipedia pathwaysPDK1
Orthology - Evolution
OrthoDB5163
GeneTree (enSembl)ENSG00000152256
Phylogenetic Trees/Animal Genes : TreeFamPDK1
HOGENOMQ15118
Homologs : HomoloGenePDK1
Homology/Alignments : Family Browser (UCSC)PDK1
Gene fusions - Rearrangements
Fusion : QuiverPDK1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDK1 [hg38]
dbVarPDK1
ClinVarPDK1
MonarchPDK1
1000_GenomesPDK1 
Exome Variant ServerPDK1
GNOMAD BrowserENSG00000152256
Varsome BrowserPDK1
Genomic Variants (DGV)PDK1 [DGVbeta]
DECIPHERPDK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDK1 
Mutations
ICGC Data PortalPDK1 
TCGA Data PortalPDK1 
Broad Tumor PortalPDK1
OASIS PortalPDK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDK1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPDK1
Mutations and Diseases : HGMDPDK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PDK1
DgiDB (Drug Gene Interaction Database)PDK1
DoCM (Curated mutations)PDK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDK1 (select a term)
intoGenPDK1
Cancer3DPDK1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602524   
Orphanet
DisGeNETPDK1
MedgenPDK1
Genetic Testing Registry PDK1
NextProtQ15118 [Medical]
GENETestsPDK1
Target ValidationPDK1
Huge Navigator PDK1 [HugePedia]
ClinGenPDK1
Clinical trials, drugs, therapy
MyCancerGenomePDK1
Protein Interactions : CTD
Pharm GKB GenePA33154
Pharm GKB PathwaysPA152241951   
PharosQ15118
Clinical trialPDK1
Miscellaneous
canSAR (ICR)PDK1 (select the gene name)
HarmonizomePDK1
DataMed IndexPDK1
Probes
Litterature
PubMed107 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPDK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 25 19:38:46 CET 2021

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