Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1)

Identity

Alias (NCBI)PDHA
PDHAD
PDHCE1A
PHE1A
HGNC (Hugo) PDHA1
HGNC Alias namepyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
HGNC Previous namePDHA
HGNC Previous namepyruvate dehydrogenase (lipoamide) alpha 1
 pyruvate dehydrogenase alpha 1
LocusID (NCBI) 5160
Atlas_Id 46942
Location Xp22.12  [Link to chromosome band Xp22]
Location_base_pair Starts at 19343893 and ends at 19361707 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)
BOLA2 (16p11.2) / PDHA1 (Xp22.12)PDHA1 (Xp22.12) / PDHA1 (Xp22.12)SUB1 (5p13.3) / PDHA1 (Xp22.12)
TMEM223 (11q12.3) / PDHA1 (Xp22.12)

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    pyruvate dehydrogenase E1 subunit alpha 1
AliasesPDHA; PDHAD; PDHCE1A; PHE1A
GeneCards (Weizmann)PDHA1
Ensembl hg19 (Hinxton)ENSG00000131828 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131828 [Gene_View]  ENSG00000131828 [Sequence]  chrX:19343893-19361707 [Contig_View]  PDHA1 [Vega]
ICGC DataPortalENSG00000131828
TCGA cBioPortalPDHA1
AceView (NCBI)PDHA1
Genatlas (Paris)PDHA1
SOURCE (Princeton)PDHA1
Genetics Home Reference (NIH)PDHA1
Genomic and cartography
GoldenPath hg38 (UCSC)PDHA1  -     chrX:19343893-19361707 +  Xp22.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDHA1  -     Xp22.12   [Description]    (hg19-Feb_2009)
GoldenPathPDHA1 - Xp22.12 [CytoView hg19]  PDHA1 - Xp22.12 [CytoView hg38]
ImmunoBaseENSG00000131828
genome Data Viewer NCBIPDHA1 [Mapview hg19]  
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)
Consensus coding sequences : CCDS (NCBI)PDHA1
Alternative Splicing GalleryENSG00000131828
Gene ExpressionPDHA1 [ NCBI-GEO ]   PDHA1 [ EBI - ARRAY_EXPRESS ]   PDHA1 [ SEEK ]   PDHA1 [ MEM ]
Gene Expression Viewer (FireBrowse)PDHA1 [ Firebrowse - Broad ]
GenevisibleExpression of PDHA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5160
GTEX Portal (Tissue expression)PDHA1
Human Protein AtlasENSG00000131828-PDHA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08559   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08559  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08559
Splice isoforms : SwissVarP08559
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 ]   [ MEROPS ]
PhosPhoSitePlusP08559
Domains : Interpro (EBI)DH_E1    Pyrv_DH_E1_asu_subgrp-y    THDP-binding   
Domain families : Pfam (Sanger)E1_dh (PF00676)   
Domain families : Pfam (NCBI)pfam00676   
Conserved Domain (NCBI)PDHA1
Blocks (Seattle)PDHA1
PDB (RSDB)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI    6CER    6CFO   
PDB Europe1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI    6CER    6CFO   
PDB (PDBSum)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI    6CER    6CFO   
PDB (IMB)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI    6CER    6CFO   
Structural Biology KnowledgeBase1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI    6CER    6CFO   
SCOP (Structural Classification of Proteins)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI    6CER    6CFO   
CATH (Classification of proteins structures)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI    6CER    6CFO   
SuperfamilyP08559
Human Protein Atlas [tissue]ENSG00000131828-PDHA1 [tissue]
Peptide AtlasP08559
HPRD02420
IPIIPI00922697   IPI01014735   IPI00976678   IPI00306301   IPI00643575   IPI00955815   IPI00642732   IPI00553155   
Protein Interaction databases
DIP (DOE-UCLA)P08559
IntAct (EBI)P08559
BioGRIDPDHA1
STRING (EMBL)PDHA1
ZODIACPDHA1
Ontologies - Pathways
QuickGOP08559
Ontology : AmiGOpyruvate dehydrogenase (acetyl-transferring) activity  pyruvate dehydrogenase (acetyl-transferring) activity  protein binding  nucleus  nucleolus  mitochondrion  mitochondrion  mitochondrial matrix  mitochondrial pyruvate dehydrogenase complex  glucose metabolic process  acetyl-CoA biosynthetic process from pyruvate  acetyl-CoA biosynthetic process from pyruvate  pyruvate metabolic process  tricarboxylic acid cycle  pyruvate dehydrogenase (NAD+) activity  pyruvate dehydrogenase complex  mitochondrial acetyl-CoA biosynthetic process from pyruvate  
Ontology : EGO-EBIpyruvate dehydrogenase (acetyl-transferring) activity  pyruvate dehydrogenase (acetyl-transferring) activity  protein binding  nucleus  nucleolus  mitochondrion  mitochondrion  mitochondrial matrix  mitochondrial pyruvate dehydrogenase complex  glucose metabolic process  acetyl-CoA biosynthetic process from pyruvate  acetyl-CoA biosynthetic process from pyruvate  pyruvate metabolic process  tricarboxylic acid cycle  pyruvate dehydrogenase (NAD+) activity  pyruvate dehydrogenase complex  mitochondrial acetyl-CoA biosynthetic process from pyruvate  
Pathways : KEGGGlycolysis / Gluconeogenesis    Citrate cycle (TCA cycle)    Pyruvate metabolism    HIF-1 signaling pathway   
NDEx NetworkPDHA1
Atlas of Cancer Signalling NetworkPDHA1
Wikipedia pathwaysPDHA1
Orthology - Evolution
OrthoDB5160
GeneTree (enSembl)ENSG00000131828
Phylogenetic Trees/Animal Genes : TreeFamPDHA1
HOGENOMP08559
Homologs : HomoloGenePDHA1
Homology/Alignments : Family Browser (UCSC)PDHA1
Gene fusions - Rearrangements
Fusion : QuiverPDHA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDHA1 [hg38]
dbVarPDHA1
ClinVarPDHA1
MonarchPDHA1
1000_GenomesPDHA1 
Exome Variant ServerPDHA1
GNOMAD BrowserENSG00000131828
Varsome BrowserPDHA1
Genomic Variants (DGV)PDHA1 [DGVbeta]
DECIPHERPDHA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDHA1 
Mutations
ICGC Data PortalPDHA1 
TCGA Data PortalPDHA1 
Broad Tumor PortalPDHA1
OASIS PortalPDHA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDHA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPDHA1
Mutations and Diseases : HGMDPDHA1
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
BioMutasearch PDHA1
DgiDB (Drug Gene Interaction Database)PDHA1
DoCM (Curated mutations)PDHA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDHA1 (select a term)
intoGenPDHA1
Cancer3DPDHA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300502    312170   
Orphanet19814    11269   
DisGeNETPDHA1
MedgenPDHA1
Genetic Testing Registry PDHA1
NextProtP08559 [Medical]
GENETestsPDHA1
Target ValidationPDHA1
Huge Navigator PDHA1 [HugePedia]
ClinGenPDHA1 (curated)
Clinical trials, drugs, therapy
MyCancerGenomePDHA1
Protein Interactions : CTD
Pharm GKB GenePA33150
PharosP08559
Clinical trialPDHA1
Miscellaneous
canSAR (ICR)PDHA1 (select the gene name)
HarmonizomePDHA1
DataMed IndexPDHA1
Probes
Litterature
PubMed148 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPDHA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:30:53 CET 2021
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