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    PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 [ Homo sapiens (human) ]

    Gene ID: 5160, updated on 22-May-2013
    Official Symbol
    PDHA1provided by HGNC
    Official Full Name
    pyruvate dehydrogenase (lipoamide) alpha 1provided by HGNC
    Primary source
    HGNC:8806
    Locus tag
    RP11-723P2.1
    See related
    Ensembl:ENSG00000131828; HPRD:02420; MIM:300502; Vega:OTTHUMG00000021224
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PDHA; PHE1A; PDHCE1A
    Summary
    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]
    Location :
    Xp22.1
    Sequence :
    Chromosome: X; NC_000023.10 (19362011..19379825)
    See PDHA1 in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene PHKA2 antisense RNA 1 Neighboring gene phosphorylase kinase, alpha 2 (liver) Neighboring gene G protein-coupled receptor 64 Neighboring gene mitogen-activated protein kinase kinase kinase 15 Neighboring gene eukaryotic translation initiation factor 5 pseudogene Neighboring gene SH3-domain kinase binding protein 1

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000275.1 NP_005382.1 PDK3    BIND  PubMed PDK3 interacts with and phosphorylates PDHA1 (E1p). 
    P08559 P10515 DLAT    HPRD  PubMed  
    P08559 P56537 EIF6    HPRD  PubMed  
    P08559 P08559 PDHA1    HPRD  PubMed  
    P08559 P11177 PDHB    HPRD  PubMed  
    P08559 Q15118 PDK1    HPRD  PubMed  
    P08559 Q15119 PDK2    HPRD  PubMed  
    P08559 Q15120 PDK3    HPRD  PubMed  
    P08559 Q16654 PDK4    HPRD  PubMed  
    P08559 Q9P0J1 PDP1    HPRD  PubMed  
    BioGRID:111186 BioGRID:106927 ASL    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:118855 BABAM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:121948 C12orf44    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:118787 DCPS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:114096 DGKE    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:108081 DLAT    BioGRID  PubMed Co-fractionation 
    BioGRID:111186 BioGRID:109898 EIF6    BioGRID  PubMed Two-hybrid 
    BioGRID:111186 BioGRID:117654 FBXO6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:124023 GINS4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:109224 GTF2I    BioGRID  PubMed Co-fractionation 
    BioGRID:111186 BioGRID:115308 HNRPDL    BioGRID  PubMed Co-fractionation 
    BioGRID:111186 BioGRID:109883 ITGA4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:110584 MSN    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:116768 NCDN    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:111017 OGDH    BioGRID  PubMed Co-fractionation 
    BioGRID:111186 BioGRID:111188 PDHB    BioGRID  PubMed Co-fractionation; Co-purification 
    BioGRID:111186 BioGRID:113737 PDHX    BioGRID  PubMed Co-fractionation 
    BioGRID:111186 BioGRID:111497 PPP1R2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:112290 SDHA    BioGRID  PubMed Co-fractionation 
    BioGRID:111186 BioGRID:119602 SIRT7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:116078 USP19    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:113257 VCL    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111186 BioGRID:124884 WDR20    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Homology

    • Homologs of the PDHA1 gene: The PDHA1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    pyruvate dehydrogenase (acetyl-transferring) activity IEA
    Inferred from Electronic Annotation
    more info
     
    pyruvate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acetyl-CoA biosynthetic process from pyruvate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycolysis IEA
    Inferred from Electronic Annotation
    more info
     
    pyruvate metabolic process TAS
    Traceable Author Statement
    more info
     
    regulation of acetyl-CoA biosynthetic process from pyruvate TAS
    Traceable Author Statement
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    tricarboxylic acid cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    pyruvate dehydrogenase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
    Names
    pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
    PDHE1-A type I
    pyruvate dehydrogenase complex, E1-alpha polypeptide 1
    NP_000275.1
    NP_001166925.1
    NP_001166926.1
    NP_001166927.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016781.1 RefSeqGene

      Range
      5001..22815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000284.3NP_000275.1  pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
      Source sequence(s)
      AL732326, BU170389, DC361191, L13318, R49470
      Consensus CDS
      CCDS14192.1
      UniProtKB/Swiss-Prot
      P08559
      Related
      ENSP00000394382, OTTHUMP00000023015, ENST00000422285, OTTHUMT00000055977
      Conserved Domains (2) summary
      cd02000
      Location:64353
      Blast Score: 951
      TPP_E1_PDC_ADC_BCADC; Thiamine pyrophosphate (TPP) family, E1 of PDC_ADC_BCADC subfamily, TPP-binding module; composed of proteins similar to the E1 components of the human pyruvate dehydrogenase complex (PDC), the acetoin dehydrogenase complex (ADC) and the branched chain ...
      TIGR03182
      Location:58370
      Blast Score: 1327
      PDH_E1_alph_y; pyruvate dehydrogenase E1 component, alpha subunit
    2. NM_001173454.1NP_001166925.1  pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional in-frame coding exon compared to variant 1, resulting in a longer isoform (2) compared to isoform 1.
      Source sequence(s)
      AK293250, AL732326, BU170389, DC361191, R49470
      Consensus CDS
      CCDS55380.1
      UniProtKB/Swiss-Prot
      P08559
      Related
      ENSP00000369134, ENST00000379806
      Conserved Domains (2) summary
      cd02000
      Location:102391
      Blast Score: 961
      TPP_E1_PDC_ADC_BCADC; Thiamine pyrophosphate (TPP) family, E1 of PDC_ADC_BCADC subfamily, TPP-binding module; composed of proteins similar to the E1 components of the human pyruvate dehydrogenase complex (PDC), the acetoin dehydrogenase complex (ADC) and the branched chain ...
      TIGR03182
      Location:96408
      Blast Score: 1338
      PDH_E1_alph_y; pyruvate dehydrogenase E1 component, alpha subunit
    3. NM_001173455.1NP_001166926.1  pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternative acceptor splice site at one of the coding exons compared to variant 1, resulting in a longer isoform (3) compared to isoform 1.
      Source sequence(s)
      AK296341, AL732326, DC361191, R49470
      Consensus CDS
      CCDS55381.1
      UniProtKB/Swiss-Prot
      P08559
      Related
      ENSP00000438550, ENST00000545074
      Conserved Domains (2) summary
      cd02000
      Location:64360
      Blast Score: 938
      TPP_E1_PDC_ADC_BCADC; Thiamine pyrophosphate (TPP) family, E1 of PDC_ADC_BCADC subfamily, TPP-binding module; composed of proteins similar to the E1 components of the human pyruvate dehydrogenase complex (PDC), the acetoin dehydrogenase complex (ADC) and the branched chain ...
      TIGR03182
      Location:58377
      Blast Score: 1313
      PDH_E1_alph_y; pyruvate dehydrogenase E1 component, alpha subunit
    4. NM_001173456.1NP_001166927.1  pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (4) compared to isoform 1.
      Source sequence(s)
      AK296341, AK296457, AL732326, DC361191, R49470
      Consensus CDS
      CCDS55382.1
      UniProtKB/Swiss-Prot
      P08559
      Related
      ENSP00000440761, ENST00000540249
      Conserved Domains (2) summary
      cd02000
      Location:64322
      Blast Score: 787
      TPP_E1_PDC_ADC_BCADC; Thiamine pyrophosphate (TPP) family, E1 of PDC_ADC_BCADC subfamily, TPP-binding module; composed of proteins similar to the E1 components of the human pyruvate dehydrogenase complex (PDC), the acetoin dehydrogenase complex (ADC) and the branched chain ...
      TIGR03182
      Location:58339
      Blast Score: 1135
      PDH_E1_alph_y; pyruvate dehydrogenase E1 component, alpha subunit

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p10 Primary Assembly

      Range
      19362011..19379825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      17111170..17129001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018934.1 Alternate CHM1_1.0

      Range
      19275809..19293624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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