Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1)

Identity

Other namesPDHA
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 (Hinxton)ENSG00000131828 [Gene_View]  chrX:19362011-19379825 [Contig_View]  PDHA1 [Vega]
ICGC DataPortalENSG00000131828
cBioPortalPDHA1
AceView (NCBI)PDHA1
Genatlas (Paris)PDHA1
WikiGenes5160
SOURCE (Princeton)NM_000284 NM_001173454 NM_001173455 NM_001173456
Genomic and cartography
GoldenPath (UCSC)PDHA1  -  Xp22.12   chrX:19362011-19379825 +  Xp22.12   [Description]    (hg19-Feb_2009)
EnsemblPDHA1 - Xp22.12 [CytoView]
Mapping of homologs : NCBIPDHA1 [Mapview]
OMIM300502   308930   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)AC_000155 NC_000023 NC_018934 NG_016781 NT_167197 NW_001842360 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 ]
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 [organisation]   Pyrv_DH_E1_asu_subgrp-y [organisation]   THDP-binding [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP08559
HPRD02420
IPIIPI00922697   IPI01014735   IPI00976678   IPI00306301   IPI00643575   IPI00955815   IPI00642732   IPI00553155   
Protein Interaction databases
DIP (DOE-UCLA)P08559
IntAct (EBI)P08559
FunCoupENSG00000131828
BioGRIDPDHA1
InParanoidP08559
Interologous Interaction database P08559
IntegromeDBPDHA1
STRING (EMBL)PDHA1
Ontologies - Pathways
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
Wikipedia pathwaysPDHA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PDHA1
snp3D : Map Gene to Disease5160
SNP (GeneSNP Utah)PDHA1
SNP : HGBasePDHA1
Genetic variants : HAPMAPPDHA1
Exome VariantPDHA1
1000_GenomesPDHA1 
ICGC programENSG00000131828 
Somatic Mutations in Cancer : COSMICPDHA1 
CONAN: Copy Number AnalysisPDHA1 
Mutations and Diseases : HGMDPDHA1
Genomic VariantsPDHA1  PDHA1 [DGVbeta]
dbVarPDHA1
ClinVarPDHA1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300502    308930    312170   
MedgenPDHA1
GENETestsPDHA1
Disease Genetic AssociationPDHA1
Huge Navigator PDHA1 [HugePedia]  PDHA1 [HugeCancerGEM]
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
PubMed86 Pubmed reference(s) in Entrez
CoreMinePDHA1
iHOPPDHA1
OncoSearchPDHA1
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:42:42 CEST 2014

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