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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PDHA1 Gene

protein-coding   GIFtS: 70
GCID: GC0XP019271

Pyruvate Dehydrogenase (Lipoamide) Alpha 1


(Previous symbol: PDHA)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Pyruvate Dehydrogenase (Lipoamide) Alpha 11 2     EC 1.2.4.13 8
PHE1A2 3 5     PDHCE1A2
PDHA1 2     Pyruvate Dehydrogenase Complex, E1-Alpha Polypeptide 12
PDHE1-A Type I2 3     Pyruvate Dehydrogenase E1 Component Subunit Alpha, Somatic Form,
Mitochondrial2

External Ids:    HGNC: 88061   Entrez Gene: 51602   Ensembl: ENSG000001318287   OMIM: 3005025   UniProtKB: P085593   

Export aliases for PDHA1 gene to outside databases

Previous GC identifers: GC0XP018898 GC0XP018028 GC0XP018564 GC0XP018723 GC0XP019121 GC0XP017111


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PDHA1 Gene:
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the
overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the
tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components:
pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1
enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit
containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene
are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced
transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Mar 2010)

GeneCards Summary for PDHA1 Gene: 
PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1) is a protein-coding gene. Diseases associated with PDHA1 include pyruvate dehydrogenase e1-alpha deficiency, and x-linked leigh syndrome, and among its related super-pathways are glycolysis and Pyruvate metabolism. GO annotations related to this gene include pyruvate dehydrogenase activity and pyruvate dehydrogenase (acetyl-transferring) activity. An important paralog of this gene is PDHA2.

UniProtKB/Swiss-Prot: ODPA_HUMAN, P08559
Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2),
and thereby links the glycolytic pathway to the tricarboxylic cycle

Gene Wiki entry for PDHA1 (Pyruvate dehydrogenase alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PDHA1 gene promoter:
         Max1   Egr-3   HFH-3   FOXI1   RORalpha1   Ik-2   COMP1   c-Myb   c-Myc   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDHA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PDHA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDHA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.1   Ensembl cytogenetic band:  Xp22.12   HGNC cytogenetic band: Xp22.1

PDHA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDHA1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP019271:  view genomic region     (about GC identifiers)

Start:
19,362,011 bp from pter      End:
19,379,825 bp from pter
Size:
17,815 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ODPA_HUMAN, P08559 (See protein sequence)
Recommended Name: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor  
Size: 390 amino acids; 43296 Da
Cofactor: Thiamine pyrophosphate
Subunit: Heterotetramer of two PDHA1 and two PDHB subunits. The heterotetramer interacts with DLAT, and is part of
the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1),
dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to
an inner core composed of about 48 DLAT and 12 PDHX molecules
Subcellular location: Mitochondrion matrix
Sequence caution: Sequence=AAA60055.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAB59581.1; Type=Frameshift; Positions=106, 175;
6/7 PDB 3D structures from and Proteopedia for PDHA1 (see all 7):
1NI4 (3D)        2OZL (3D)        3EXE (3D)        3EXF (3D)        3EXG (3D)        3EXH (3D)    
Secondary accessions: A5YVE9 B7Z3T7 B7Z3X5 Q53H41 Q5JPT8 Q9NP12 Q9UBJ8 Q9UBU0 Q9UNG4 Q9UNG5
Alternative splicing: 4 isoforms:  P08559-1   P08559-2   P08559-3   P08559-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDHA1: NX_P08559

Explore proteomics data for PDHA1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Ser-232, Ser-293 and Ser-300 by PDK family kinases inactivates the enzyme; for this
    phosphorylation at a single site is sufficient. Dephosphorylation at all three sites, i.e. at Ser-232, Ser-293
    and Ser-300, is required for reactivation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08559

  • 4/22 DME Specific Peptides for PDHA1 (P08559) (see all 22)
     GHSMSDP  LCVREAT  RLEEGPP  IRGFCHL 

    PDHA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PDHA1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_000275.1  NP_001166925.1  NP_001166926.1  NP_001166927.1  

    ENSEMBL proteins: 
     ENSP00000406473   ENSP00000404616   ENSP00000394382   ENSP00000348062   ENSP00000369133  
     ENSP00000369132   ENSP00000369134   ENSP00000438550   ENSP00000440761  
    Reactome Protein details: P08559
    Human Recombinant Protein Products for PDHA1: 
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    GenScript Custom Purified and Recombinant Proteins Services for PDHA1
    Novus Biologicals PDHA1 Protein
    Novus Biologicals PDHA1 Lysates
    Sino Biological Recombinant Protein for PDHA1
    Sino Biological Cell Lysate for PDHA1 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS3034892
    GO:0005759mitochondrial matrix TAS--
    GO:0043231intracellular membrane-bounded organelle ----
    GO:0045254pyruvate dehydrogenase complex IDA19081061

    PDHA1 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001017 DH_E1
     IPR017597 Pyrv_DH_E1_asu_subgrp-y

    Graphical View of Domain Structure for InterPro Entry P08559

    ProtoNet protein and cluster: P08559

    1 Blocks protein domain: IPB001017 Dehydrogenase


    PDHA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ODPA_HUMAN, P08559
    Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2),
    and thereby links the glycolytic pathway to the tricarboxylic cycle
    Catalytic activity: Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine =
    [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2)
    Enzyme regulation: Pyruvate dehydrogenase activity is inhibited by phosphorylation of PDHA1; it is reactivated by
    dephosphorylation

         Genatlas biochemistry entry for PDHA1:
    pyruvate dehydrogenase,E1 alpha polypeptide 1,somatic tissues

         Enzyme Number (IUBMB): EC 1.2.4.11 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004738pyruvate dehydrogenase activity IDA19081061
    GO:0004739pyruvate dehydrogenase (acetyl-transferring) activity IEA--
    GO:0016624oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor ----
         
    PDHA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PDHA1:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pdha1):
     cardiovascular system  embryogenesis  growth/size  homeostasis/metabolism  mortality/aging 
     muscle  nervous system  reproductive system 

    PDHA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pdha1tm1.1Ptl for PDHA1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PDHA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PDHA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDHA1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDHA1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PDHA1
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate PDHA1:
    hsa-miR-203 hsa-miR-217 hsa-miR-4312 hsa-miR-570 hsa-miR-33a* hsa-miR-9* hsa-miR-3182 hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidPDHA1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): PDHA1 (NM_000284)
    Sino Biological Human cDNA Clone for PDHA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDHA1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDHA1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PDHA1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    Glycolysis and Gluconeogenesis0.60
    Glycolysis / Gluconeogenesis0.46
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46
    2Pyruvate metabolism
    Pyruvate metabolism0.60
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Regulation of pyruvate dehydrogenase (PDH) complex0.60
    pyruvate decarboxylation to acetyl CoA0.31
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    5Translation Insulin regulation of translation
    Regulation of lipid metabolism Insulin signaling:generic cascades0.59

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PDHA1
        Regulation of lipid metabolism Insulin signaling-generic cascades


    1 Cell Signaling Technology (CST) Pathway for PDHA1
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for PDHA1
        Regulation of lipid metabolism Insulin signaling-generic cascades

    4 BioSystems Pathways for PDHA1
        Acetylcholine Synthesis
    pyruvate decarboxylation to acetyl CoA
    Glycolysis and Gluconeogenesis
    Conversion of glucose to acetyl CoA and entry into the TCA cycle


    5        Reactome Pathways for PDHA1
        Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    The citric acid (TCA) cycle and respiratory electron transport
    Regulation of pyruvate dehydrogenase (PDH) complex


    5/7         Kegg Pathways  (Kegg details for PDHA1) (see all 7):
        Glycolysis / Gluconeogenesis
    Citrate cycle (TCA cycle)
    Pyruvate metabolism
    Butanoate metabolism
    Metabolic pathways


    PDHA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PDHA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/68 Interacting proteins for PDHA1 (P085592, 3 ENSP000003943824) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDK1Q151182, 3, ENSP000002820774MINT-8227846 I2D: score=2 STRING: ENSP00000282077
    PDP1Q9P0J12, 3, ENSP000002975984MINT-8227761 I2D: score=2 STRING: ENSP00000297598
    PDHBP111773, ENSP000003072414I2D: score=4 STRING: ENSP00000307241
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    WDR20Q8TBZ33, ENSP000003354344I2D: score=2 STRING: ENSP00000335434
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006086acetyl-CoA biosynthetic process from pyruvate IDA19081061
    GO:0006090pyruvate metabolic process TAS--
    GO:0006096glycolysis IEA--
    GO:0006099tricarboxylic acid cycle IDA19081061
    GO:0008152metabolic process ----

    PDHA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PDHA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PDHA1 (ODPA)

    10/13 HMDB Compounds for PDHA1 (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-03718468
    Alpha-ketoisovaleric acid2-Ketoisovalerate (see all 45)759-05-76822537
    2-(a-Hydroxyethyl)thiamine diphosphate2-Hydroxyethyl-ThPP (see all 6)10055-47-7--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    LipoamideLipozyme (see all 25)940-69-2--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--

    1 DrugBank Compound for PDHA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    10/18 Novoseek inferred chemical compound relationships for PDHA1 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyruvate 90.2 90 1909401 (4), 2227443 (2), 10679936 (2), 16855207 (2) (see all 66)
    acetyl-coa 63.9 1 10662717 (1)
    dichloroacetate 57.6 5 11742848 (2), 10409125 (1)
    acetyl-l-carnitine 45.6 1 10913026 (1)
    glycogen 45.5 4 10913026 (1), 10662717 (1), 1599392 (1), 12651914 (1)
    lactate 38.5 4 10913026 (2), 7573423 (1), 10662717 (1)
    thiamine 36.4 1 17043409 (1)
    carnitine 32 1 9843740 (1)
    nadh 22 3 17947500 (1), 7573423 (1), 10662717 (1)
    chloramphenicol 21.6 1 8597605 (1)

    Search CenterWatch for drugs/clinical trials and news about PDHA1 / ODPA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PDHA1 gene (4 alternative transcripts): 
    NM_000284.3  NM_001173454.1  NM_001173455.1  NM_001173456.1  

    Unigene Cluster for PDHA1:

    Pyruvate dehydrogenase (lipoamide) alpha 1
    Hs.530331  [show with all ESTs]
    Unigene Representative Sequence: NM_001173454
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000423505 ENST00000417819 ENST00000422285 ENST00000492364 ENST00000355808
    ENST00000379805 ENST00000479146 ENST00000481733 ENST00000379804 ENST00000478795
    ENST00000379806(uc004czh.4) ENST00000545074(uc011mjc.2 uc004czg.4)
    ENST00000540249(uc011mjd.2 uc010nfl.3)

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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDHA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDHA1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PDHA1

    Additional mRNA sequence: 

    AK092210.1 AK129887.1 AK222740.1 AK222988.1 AK293250.1 AK296341.1 AK296457.1 AK312263.1 
    BC002406.1 EF576990.1 EF590116.1 EF590117.1 J03503.1 J03575.1 L13318.1 L48690.1 
    M24848.1 S57358.1 X52709.1 X52710.1 

    24/27 DOTS entries (see all 27):

    DT.91759992  DT.418795  DT.95373992  DT.95348325  DT.121285723  DT.99968606  DT.75100518  DT.121285753 
    DT.100725307  DT.121285711  DT.100883191  DT.121285701  DT.100883205  DT.95373990  DT.97760116  DT.100034728 
    DT.100883190  DT.100883194  DT.100883195  DT.100883198  DT.100883201  DT.100883203  DT.121285730  DT.121285733 

    24/597 AceView cDNA sequences (see all 597):

    CR592178 AA933938 BQ640171 CR590359 CR616765 BQ954933 AW673169 BU528769 
    AI799955 AI151153 BE794206 AU279620 BU501551 BU508236 BC002406 BM700521 
    BI490054 BU732109 BM827283 CN483740 BQ051156 BM712430 CD697359 AU130883 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for PDHA1 (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^
    SP1:                                      -     -     -                             -           -     -                 -           -     -                     
    SP2:                                      -           -                             -           -     -                 -                                       
    SP3:                                      -     -     -                             -           -     -                 -     -     -     -                     
    SP4:                                      -     -     -                             -           -     -                 -                                       
    SP5:                                                                                                                    -     -     -     -                     

    ExUns: 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b
    SP1:  -                                       
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:  -                                       


    ECgene alternative splicing isoforms for PDHA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PDHA1 expression in normal human tissues (normalized intensities)      PDHA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTTTGTAC
    PDHA1 Expression
    About this image


    PDHA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/ventricle   

    See PDHA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDHA1

    SOURCE GeneReport for Unigene cluster: Hs.530331

    UniProtKB/Swiss-Prot: ODPA_HUMAN, P08559
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including PDHA1: 
              Glucose Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PDHA1 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdha11 , 5 pyruvate dehydrogenase E1 alpha 11, 5 88.55(n)1
    98.21(a)1
      X (73.95 cM)5
    185971  NM_008810.21  NP_032836.11 
     1601222095 
    chicken
    (Gallus gallus)
    Aves PDHA11 pyruvate dehydrogenase (lipoamide) alpha 1 79.57(n)
    86.92(a)
      418610  NM_001012544.1  NP_001012562.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    85(a)
    1 → many
    3(123386156-123414060)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.188522 Xenopus laevis transcribed sequence with moderate similarity more 75.53(n)    BU913844.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufo96f032 Danio rerio pyruvate dehydrogenase (lipoamide) alpha more 76.04(n)    BC060928.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG70103
    l(1)G03341
    pyruvate dehydrogenase (lipoamide)3
    lethal (1) G03341
    58(a)
    (best of 2)3
    59.47(n)1
    58.93(a)1
      4C143
    314061  NM_131953.41  NP_572181.41 
    worm
    (Caenorhabditis elegans)
    Secernentea pdha-16
    Probable pyruvate dehydrogenase E1 component subun...
    55(a)
    1 → many
    II(8066111-8068184)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PDA16
    E1 alpha subunit of the pyruvate dehydrogenase (PD...
    44(a)
    1 → many
    V(546817-548079)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons E1 ALPHA1 pyruvate dehydrogenase complex E1 alpha subunit 59.14(n)
    56.43(a)
      842284  NM_104682.2  NP_176198.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g02465001 hypothetical protein 56.53(n)
    52.41(a)
      4340640  NM_001063816.1  NP_001057281.1 


    ENSEMBL Gene Tree for PDHA1 (if available)
    TreeFam Gene Tree for PDHA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDHA1 gene
    PDHA22  BCKDHA2  ENSG000002557302  
    2 SIMAP similar genes for PDHA1 using alignment to 12 protein entries:     ODPA_HUMAN (see all proteins):
    PDHA1/LOC79064    PDHA2

    PDHA1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PDHA1
    PGOHUM00000259829


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/353 SNPs in PDHA1 are shown (see all 353)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0049564
    Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)4--see VAR_0049562 P L mis40--------
    VAR_0210534
    Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)4--see VAR_0210532 Y N mis40--------
    VAR_0049534
    Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)4--see VAR_0049532 A T mis40--------
    VAR_0049614
    Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)4--see VAR_0049612 H L mis40--------
    VAR_0049554
    Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)4--see VAR_0049552 M V mis40--------
    VAR_0049544
    X-linked Leigh syndrome (X-LS)4--see VAR_0049542 F L mis40--------
    VAR_0049664
    X-linked Leigh syndrome (X-LS)4--see VAR_0049662 R H mis40--------
    VAR_0049634
    Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)4--see VAR_0049632 R H mis40--------
    VAR_0049624
    Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)4--see VAR_0049622 R C mis40--------
    VAR_0049514
    Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)4--see VAR_0049512 G R mis40--------

    HapMap Linkage Disequilibrium report for PDHA1 (19362011 - 19379825 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PDHA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2668327CNV Deletion23128226
    esv22876CNV Loss19812545


    Human Gene Mutation Database (HGMD): PDHA1

    Locus Specific Mutation Databases (LSDB): PDHA1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PDHA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300502   
    OMIM disorders: 312170  308930  
    UniProtKB/Swiss-Prot: ODPA_HUMAN, P08559
  • Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]: An enzymatic defect causing primary
    lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis
    in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system
    without systemic acidosis. Note=The disease is caused by mutations affecting the gene represented in this entry
  • X-linked Leigh syndrome (X-LS) [MIM:308930]: Early-onset progressive neurodegenerative disorder with a
    characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous
    system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of
    demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas
    of the central nervous system are involved. The most common underlying cause is a defect in oxidative
    phosphorylation. LS may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/22 diseases for PDHA1 (see all 22):    About MalaCards
    pyruvate dehydrogenase e1-alpha deficiency    x-linked leigh syndrome    coffin-lowry syndrome    alpha-ketoglutarate dehydrogenase deficiency
    pyruvate decarboxylase deficiency    x-linked disease    e3-binding protein deficiency    retinoschisis
    episodic ataxia    lactic acidosis    periventricular leukomalacia    leukomalacia
    metabolic disorders    protein s deficiency    primary biliary cirrhosis    paralysis
    ataxia    hypoxia    cerebritis    hypertension

    5 diseases from the University of Copenhagen DISEASES database for PDHA1:
    Pyruvate decarboxylase deficiency     Lactic acidosis     Leigh disease     Coffin-Lowry syndrome
    Retinoschisis

    PDHA1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred disease relationships for PDHA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leigh syndrome 71 4 17582259 (2), 20002125 (1), 8982956 (1)
    acidosis lactic 70.8 5 14635113 (1), 7692352 (1), 8337946 (1), 9467016 (1) (see all 5)
    coffin-lowry syndrome 69 1 9467016 (1)
    metabolic disorder 8.12 1 17582259 (1)
    hypertrophy 0 1 9344771 (1)

    Genatlas disease: PDHA1
    overwhelming lactic acidosis at birth,Leigh syndrome,with death in neonatal period or progressive dysfunction
    with moderate lactic acidosis or carbohydrate-induced episodic ataxia with mild developmental delay in males

    Human Genome Epidemiology (HuGE) Navigator: PDHA1 (1 document)

    Export disorders for PDHA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PDHA1 gene, integrated from 9 sources (see all 173):
    (articles sorted by number of sources associating them with PDHA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. X chromosome evidence for ancient human histories. (PubMed id 10077682)1, 2, 9 Harris E.E. and Hey J. (1999)
    2. Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. (PubMed id 1909401)1, 2, 9 Hansen L.L.... Dahl H.-H.M. (1991)
    3. Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase alpha-subunit. (PubMed id 2227443)1, 2, 9 Koike K.... Koike M. (1990)
    4. Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS). (PubMed id 8844217)1, 2, 9 Tripatara A.... Patel M.S. (1996)
    5. An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. (PubMed id 7573035)1, 2, 9 Takakubo F.... Dahl H.-H.M. (1995)
    6. X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. (PubMed id 1293379)1, 2, 9 Dahl H.-H.M....Brown G.K. (1992)
    7. Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops. (PubMed id 19081061)1, 2 Kato M....Chuang D.T. (2008)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components. (PubMed id 14638692)1, 2 Hiromasa Y....Roche T.E. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5160 HGNC: 8806 AceView: PDHA1 Ensembl:ENSG00000131828 euGenes: HUgn5160
    ECgene: PDHA1 Kegg: 5160 H-InvDB: PDHA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PDHA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PDHA1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PDHA1 gene:
    Search GeneIP for patents involving PDHA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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