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PDK3 (pyruvate dehydrogenase kinase 3)

Identity

Alias_namespyruvate dehydrogenase kinase, isoenzyme 3
pyruvate dehydrogenase kinase, isozyme 3
Other aliasCMTX6
GS1-358P8.4
HGNC (Hugo) PDK3
LocusID (NCBI) 5165
Atlas_Id 43406
Location Xp22.11  [Link to chromosome band Xp22]
Location_base_pair Starts at 24483344 and ends at 24568583 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PANK1 (10q23.31) / PDK3 (Xp22.11)PDK3 (Xp22.11) / CADPS (3p14.2)PDK3 (Xp22.11) / NAV3 (12q21.2)
PDK3 (Xp22.11) / PDK3 (Xp22.11)PANK1 10q23.31 / PDK3 Xp22.11PDK3 Xp22.11 / CADPS 3p14.2
PDK3 Xp22.11 / NAV3 12q21.2

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)PDK3   8811
Cards
Entrez_Gene (NCBI)PDK3  5165  pyruvate dehydrogenase kinase 3
AliasesCMTX6; GS1-358P8.4
GeneCards (Weizmann)PDK3
Ensembl hg19 (Hinxton)ENSG00000067992 [Gene_View]  chrX:24483344-24568583 [Contig_View]  PDK3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000067992 [Gene_View]  chrX:24483344-24568583 [Contig_View]  PDK3 [Vega]
ICGC DataPortalENSG00000067992
TCGA cBioPortalPDK3
AceView (NCBI)PDK3
Genatlas (Paris)PDK3
WikiGenes5165
SOURCE (Princeton)PDK3
Genetics Home Reference (NIH)PDK3
Genomic and cartography
GoldenPath hg19 (UCSC)PDK3  -     chrX:24483344-24568583 +  Xp22.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PDK3  -     Xp22.11   [Description]    (hg38-Dec_2013)
EnsemblPDK3 - Xp22.11 [CytoView hg19]  PDK3 - Xp22.11 [CytoView hg38]
Mapping of homologs : NCBIPDK3 [Mapview hg19]  PDK3 [Mapview hg38]
OMIM300906   
Gene and transcription
Genbank (Entrez)AI001064 AI080664 AK301965 AW173304 BC015948
RefSeq transcript (Entrez)NM_001142386 NM_005391
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_016762 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)PDK3
Cluster EST : UnigeneHs.296031 [ NCBI ]
CGAP (NCI)Hs.296031
Alternative Splicing GalleryENSG00000067992
Gene ExpressionPDK3 [ NCBI-GEO ]   PDK3 [ EBI - ARRAY_EXPRESS ]   PDK3 [ SEEK ]   PDK3 [ MEM ]
Gene Expression Viewer (FireBrowse)PDK3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5165
GTEX Portal (Tissue expression)PDK3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15120   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15120  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15120
Splice isoforms : SwissVarQ15120
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 ]   
PhosPhoSitePlusQ15120
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)PDK3
DMDM Disease mutations5165
Blocks (Seattle)PDK3
PDB (SRS)1Y8N    1Y8O    1Y8P    2PNR    2Q8I   
PDB (PDBSum)1Y8N    1Y8O    1Y8P    2PNR    2Q8I   
PDB (IMB)1Y8N    1Y8O    1Y8P    2PNR    2Q8I   
PDB (RSDB)1Y8N    1Y8O    1Y8P    2PNR    2Q8I   
Structural Biology KnowledgeBase1Y8N    1Y8O    1Y8P    2PNR    2Q8I   
SCOP (Structural Classification of Proteins)1Y8N    1Y8O    1Y8P    2PNR    2Q8I   
CATH (Classification of proteins structures)1Y8N    1Y8O    1Y8P    2PNR    2Q8I   
SuperfamilyQ15120
Human Protein AtlasENSG00000067992
Peptide AtlasQ15120
HPRD03956
IPIIPI00014849   IPI00915357   
Protein Interaction databases
DIP (DOE-UCLA)Q15120
IntAct (EBI)Q15120
FunCoupENSG00000067992
BioGRIDPDK3
STRING (EMBL)PDK3
ZODIACPDK3
Ontologies - Pathways
QuickGOQ15120
Ontology : AmiGOprotein kinase activity  protein serine/threonine kinase activity  pyruvate dehydrogenase (acetyl-transferring) kinase activity  pyruvate dehydrogenase (acetyl-transferring) kinase activity  protein binding  ATP binding  mitochondrion  mitochondrial matrix  glucose metabolic process  regulation of acetyl-CoA biosynthetic process from pyruvate  regulation of acetyl-CoA biosynthetic process from pyruvate  regulation of glucose metabolic process  peptidyl-serine phosphorylation  peroxisome proliferator activated receptor signaling pathway  cellular response to glucose stimulus  cellular response to fatty acid  hypoxia-inducible factor-1alpha signaling pathway  regulation of reactive oxygen species metabolic process  
Ontology : EGO-EBIprotein kinase activity  protein serine/threonine kinase activity  pyruvate dehydrogenase (acetyl-transferring) kinase activity  pyruvate dehydrogenase (acetyl-transferring) kinase activity  protein binding  ATP binding  mitochondrion  mitochondrial matrix  glucose metabolic process  regulation of acetyl-CoA biosynthetic process from pyruvate  regulation of acetyl-CoA biosynthetic process from pyruvate  regulation of glucose metabolic process  peptidyl-serine phosphorylation  peroxisome proliferator activated receptor signaling pathway  cellular response to glucose stimulus  cellular response to fatty acid  hypoxia-inducible factor-1alpha signaling pathway  regulation of reactive oxygen species metabolic process  
NDEx NetworkPDK3
Atlas of Cancer Signalling NetworkPDK3
Wikipedia pathwaysPDK3
Orthology - Evolution
OrthoDB5165
GeneTree (enSembl)ENSG00000067992
Phylogenetic Trees/Animal Genes : TreeFamPDK3
HOVERGENQ15120
HOGENOMQ15120
Homologs : HomoloGenePDK3
Homology/Alignments : Family Browser (UCSC)PDK3
Gene fusions - Rearrangements
Fusion : MitelmanPANK1/PDK3 [10q23.31/Xp22.11]  [t(X;10)(p22;q23)]  
Fusion : MitelmanPDK3/CADPS [Xp22.11/3p14.2]  [t(X;3)(p22;p14)]  
Fusion : MitelmanPDK3/NAV3 [Xp22.11/12q21.2]  [t(X;12)(p22;q21)]  
Fusion: TCGAPANK1 10q23.31 PDK3 Xp22.11 PRAD
Fusion: TCGAPDK3 Xp22.11 CADPS 3p14.2 PRAD
Fusion: TCGAPDK3 Xp22.11 NAV3 12q21.2 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDK3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDK3
dbVarPDK3
ClinVarPDK3
1000_GenomesPDK3 
Exome Variant ServerPDK3
ExAC (Exome Aggregation Consortium)PDK3 (select the gene name)
Genetic variants : HAPMAP5165
Genomic Variants (DGV)PDK3 [DGVbeta]
DECIPHER (Syndromes)X:24483344-24568583  ENSG00000067992
CONAN: Copy Number AnalysisPDK3 
Mutations
ICGC Data PortalPDK3 
TCGA Data PortalPDK3 
Broad Tumor PortalPDK3
OASIS PortalPDK3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDK3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDK3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PDK3
DgiDB (Drug Gene Interaction Database)PDK3
DoCM (Curated mutations)PDK3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDK3 (select a term)
intoGenPDK3
Cancer3DPDK3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300906   
Orphanet22098   
MedgenPDK3
Genetic Testing Registry PDK3
NextProtQ15120 [Medical]
TSGene5165
GENETestsPDK3
Huge Navigator PDK3 [HugePedia]
snp3D : Map Gene to Disease5165
BioCentury BCIQPDK3
ClinGenPDK3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5165
Chemical/Pharm GKB GenePA33156
Clinical trialPDK3
Miscellaneous
canSAR (ICR)PDK3 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDK3
EVEXPDK3
GoPubMedPDK3
iHOPPDK3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:20:53 CET 2017

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