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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

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PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1)

Identity

Other namesPDHA
PDHAD
PDHCE1A
PHE1A
HGNC (Hugo) PDHA1
LocusID (NCBI) 5160
Location Xp22.12
Location_base_pair Starts at 19362011 and ends at 19379825 bp from pter ( according to hg19-Feb_2009)
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)PDHA1   8806
Cards
Entrez_Gene (NCBI)PDHA1  5160  pyruvate dehydrogenase (lipoamide) alpha 1
GeneCards (Weizmann)PDHA1
Ensembl hg19 (Hinxton)ENSG00000131828 [Gene_View]  chrX:19362011-19379825 [Contig_View]  PDHA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000131828 [Gene_View]  chrX:19362011-19379825 [Contig_View]  PDHA1 [Vega]
ICGC DataPortalENSG00000131828
cBioPortalPDHA1
AceView (NCBI)PDHA1
Genatlas (Paris)PDHA1
WikiGenes5160
SOURCE (Princeton)PDHA1
Genomic and cartography
GoldenPath hg19 (UCSC)PDHA1  -     chrX:19362011-19379825 +  Xp22.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PDHA1  -     Xp22.12   [Description]    (hg38-Dec_2013)
EnsemblPDHA1 - Xp22.12 [CytoView hg19]  PDHA1 - Xp22.12 [CytoView hg38]
Mapping of homologs : NCBIPDHA1 [Mapview hg19]  PDHA1 [Mapview hg38]
OMIM300502   312170   
Gene and transcription
Genbank (Entrez)AK129887 AK222740 AK222988 AK293250 AK296341
RefSeq transcript (Entrez)NM_000284 NM_001173454 NM_001173455 NM_001173456
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_016781 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)PDHA1
Cluster EST : UnigeneHs.530331 [ NCBI ]
CGAP (NCI)Hs.530331
Alternative Splicing : Fast-db (Paris)GSHG0031414
Alternative Splicing GalleryENSG00000131828
Gene ExpressionPDHA1 [ NCBI-GEO ]     PDHA1 [ SEEK ]   PDHA1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08559 (Uniprot)
NextProtP08559  [Medical]
With graphics : InterProP08559
Splice isoforms : SwissVarP08559 (Swissvar)
Catalytic activity : Enzyme1.2.4.1 [ Enzyme-Expasy ]   1.2.4.11.2.4.1 [ IntEnz-EBI ]   1.2.4.1 [ BRENDA ]   1.2.4.1 [ KEGG ]   
Domains : Interpro (EBI)DH_E1    Pyrv_DH_E1_asu_subgrp-y    THDP-binding   
Related proteins : CluSTrP08559
Domain families : Pfam (Sanger)E1_dh (PF00676)   
Domain families : Pfam (NCBI)pfam00676   
DMDM Disease mutations5160
Blocks (Seattle)P08559
PDB (SRS)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
PDB (PDBSum)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
PDB (IMB)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
PDB (RSDB)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
Human Protein AtlasENSG00000131828
Peptide AtlasP08559
HPRD02420
IPIIPI00922697   IPI01014735   IPI00976678   IPI00306301   IPI00643575   IPI00955815   IPI00642732   IPI00553155   
Protein Interaction databases
DIP (DOE-UCLA)P08559
IntAct (EBI)P08559
FunCoupENSG00000131828
BioGRIDPDHA1
IntegromeDBPDHA1
STRING (EMBL)PDHA1
Ontologies - Pathways
QuickGOP08559
Ontology : AmiGOpyruvate dehydrogenase activity  pyruvate dehydrogenase (acetyl-transferring) activity  nucleus  mitochondrion  mitochondrial matrix  glucose metabolic process  acetyl-CoA biosynthetic process from pyruvate  pyruvate metabolic process  glycolytic process  tricarboxylic acid cycle  regulation of acetyl-CoA biosynthetic process from pyruvate  cellular metabolic process  small molecule metabolic process  pyruvate dehydrogenase complex  
Ontology : EGO-EBIpyruvate dehydrogenase activity  pyruvate dehydrogenase (acetyl-transferring) activity  nucleus  mitochondrion  mitochondrial matrix  glucose metabolic process  acetyl-CoA biosynthetic process from pyruvate  pyruvate metabolic process  glycolytic process  tricarboxylic acid cycle  regulation of acetyl-CoA biosynthetic process from pyruvate  cellular metabolic process  small molecule metabolic process  pyruvate dehydrogenase complex  
Pathways : BIOCARTAShuttle for transfer of acetyl groups from mitochondria to the cytosol [Genes]   
Pathways : KEGGGlycolysis / Gluconeogenesis    Citrate cycle (TCA cycle)    Pyruvate metabolism    HIF-1 signaling pathway   
Protein Interaction DatabasePDHA1
DoCM (Curated mutations)PDHA1
Wikipedia pathwaysPDHA1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPDHA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDHA1
dbVarPDHA1
ClinVarPDHA1
1000_GenomesPDHA1 
Exome Variant ServerPDHA1
SNP (GeneSNP Utah)PDHA1
SNP : HGBasePDHA1
Genetic variants : HAPMAPPDHA1
Genomic Variants (DGV)PDHA1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000131828 
Somatic Mutations in Cancer : COSMICPDHA1 
CONAN: Copy Number AnalysisPDHA1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:19362011-19379825
Mutations and Diseases : HGMDPDHA1
OMIM300502    312170   
MedgenPDHA1
NextProtP08559 [Medical]
GENETestsPDHA1
Disease Genetic AssociationPDHA1
Huge Navigator PDHA1 [HugePedia]  PDHA1 [HugeCancerGEM]
snp3D : Map Gene to Disease5160
DGIdb (Drug Gene Interaction db)PDHA1
General knowledge
Homologs : HomoloGenePDHA1
Homology/Alignments : Family Browser (UCSC)PDHA1
Phylogenetic Trees/Animal Genes : TreeFamPDHA1
Chemical/Protein Interactions : CTD5160
Chemical/Pharm GKB GenePA33150
Clinical trialPDHA1
Cancer Resource (Charite)ENSG00000131828
Other databases
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
CoreMinePDHA1
GoPubMedPDHA1
iHOPPDHA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Mar 28 16:53:06 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.