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PDK1 (pyruvate dehydrogenase kinase 1)

Identity

Alias_namespyruvate dehydrogenase kinase, isoenzyme 1
pyruvate dehydrogenase kinase, isozyme 1
Other alias-
HGNC (Hugo) PDK1
LocusID (NCBI) 5163
Atlas_Id 43405
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 173420697 and ends at 173463862 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  5163  pyruvate dehydrogenase kinase 1
Aliases
GeneCards (Weizmann)PDK1
Ensembl hg19 (Hinxton)ENSG00000152256 [Gene_View]  chr2:173420697-173463862 [Contig_View]  PDK1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000152256 [Gene_View]  chr2:173420697-173463862 [Contig_View]  PDK1 [Vega]
ICGC DataPortalENSG00000152256
TCGA cBioPortalPDK1
AceView (NCBI)PDK1
Genatlas (Paris)PDK1
WikiGenes5163
SOURCE (Princeton)PDK1
Genetics Home Reference (NIH)PDK1
Genomic and cartography
GoldenPath hg19 (UCSC)PDK1  -     chr2:173420697-173463862 +  2q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PDK1  -     2q31.1   [Description]    (hg38-Dec_2013)
EnsemblPDK1 - 2q31.1 [CytoView hg19]  PDK1 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBIPDK1 [Mapview hg19]  PDK1 [Mapview hg38]
OMIM602524   
Gene and transcription
Genbank (Entrez)AK056110 AK294194 AK302321 AK304388 AK312700
RefSeq transcript (Entrez)NM_001278549 NM_002610
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)PDK1
Cluster EST : UnigeneHs.733780 [ NCBI ]
CGAP (NCI)Hs.733780
Alternative Splicing GalleryENSG00000152256
Gene ExpressionPDK1 [ NCBI-GEO ]   PDK1 [ EBI - ARRAY_EXPRESS ]   PDK1 [ SEEK ]   PDK1 [ MEM ]
Gene Expression Viewer (FireBrowse)PDK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5163
GTEX Portal (Tissue expression)PDK1
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 ]   
PhosPhoSitePlusQ15118
Domaine pattern : Prosite (Expaxy)HIS_KIN (PS50109)   
Domains : Interpro (EBI)BCDHK/PDK_N    HATPase_C    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
DMDM Disease mutations5163
Blocks (Seattle)PDK1
PDB (SRS)2Q8F    2Q8G    2Q8H   
PDB (PDBSum)2Q8F    2Q8G    2Q8H   
PDB (IMB)2Q8F    2Q8G    2Q8H   
PDB (RSDB)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 AtlasENSG00000152256
Peptide AtlasQ15118
HPRD03954
IPIIPI00014831   IPI01015681   IPI00917984   IPI00655704   IPI00917849   IPI00917149   IPI00915816   
Protein Interaction databases
DIP (DOE-UCLA)Q15118
IntAct (EBI)Q15118
FunCoupENSG00000152256
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  protein phosphorylation  protein phosphorylation  cell proliferation  intrinsic apoptotic signaling pathway in response to oxidative stress  regulation of acetyl-CoA biosynthetic process from pyruvate  regulation of glucose metabolic process  hypoxia-inducible factor-1alpha signaling pathway  mitophagy in response to mitochondrial depolarization  
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  protein phosphorylation  protein phosphorylation  cell proliferation  intrinsic apoptotic signaling pathway in response to oxidative stress  regulation of acetyl-CoA biosynthetic process from pyruvate  regulation of glucose metabolic process  hypoxia-inducible factor-1alpha signaling pathway  mitophagy in response to mitochondrial depolarization  
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
HOVERGENQ15118
HOGENOMQ15118
Homologs : HomoloGenePDK1
Homology/Alignments : Family Browser (UCSC)PDK1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDK1
dbVarPDK1
ClinVarPDK1
1000_GenomesPDK1 
Exome Variant ServerPDK1
ExAC (Exome Aggregation Consortium)PDK1 (select the gene name)
Genetic variants : HAPMAP5163
Genomic Variants (DGV)PDK1 [DGVbeta]
DECIPHER (Syndromes)2:173420697-173463862  ENSG00000152256
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602524   
Orphanet
MedgenPDK1
Genetic Testing Registry PDK1
NextProtQ15118 [Medical]
TSGene5163
GENETestsPDK1
Huge Navigator PDK1 [HugePedia]
snp3D : Map Gene to Disease5163
BioCentury BCIQPDK1
ClinGenPDK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5163
Chemical/Pharm GKB GenePA33154
Clinical trialPDK1
Miscellaneous
canSAR (ICR)PDK1 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDK1
EVEXPDK1
GoPubMedPDK1
iHOPPDK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:13:55 CEST 2017

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