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

    Gene ID: 5160, updated on 20-Apr-2017
    Official Symbol
    PDHA1provided by HGNC
    Official Full Name
    pyruvate dehydrogenase (lipoamide) alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:8806
    See related
    Ensembl:ENSG00000131828 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; PDHAD; 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]
    Orthologs
    Location:
    Xp22.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (19343893..19361707)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (19362011..19379825)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PHKA2 antisense RNA 1 Neighboring gene uncharacterized LOC101928415 Neighboring gene phosphorylase kinase regulatory subunit alpha 2 Neighboring gene adhesion G protein-coupled receptor G2 Neighboring gene mitogen-activated protein kinase kinase kinase 15 Neighboring gene eukaryotic translation initiation factor 5 pseudogene 2 Neighboring gene SH3 domain containing kinase binding protein 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Pyruvate dehydrogenase E1-alpha deficiency
    MedGen: C1839414 OMIM: 312170 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-09-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-09-06)

    ClinGen Genome Curation PagePubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr enhances PPARbeta/delta agonist GW501516-induced pyruvate dehydrogenase kinase 4 (PDK4) protein expression and phosphorylation of pyruvate dehydrogenase alpha 1 (PDHE1alpha) at serine 293 in cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    pyruvate dehydrogenase (NAD+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glyoxylate metabolic process TAS
    Traceable Author Statement
    more info
     
    mitochondrial acetyl-CoA biosynthetic process from pyruvate 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
     
    tricarboxylic acid cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    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
    PDHE1-A type I
    pyruvate dehydrogenase E1 subunit
    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

      See identical proteins and their annotated locations for NP_000275.1

      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
      UniProtKB/TrEMBL
      A0A024RBX9
      Related
      ENSP00000394382.2, OTTHUMP00000023015, ENST00000422285.6, OTTHUMT00000055977
      Conserved Domains (1) summary
      TIGR03182
      Location:58370
      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

      See identical proteins and their annotated locations for NP_001166925.1

      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
      ENSP00000369134.5, ENST00000379806.9
      Conserved Domains (1) summary
      TIGR03182
      Location:96408
      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

      See identical proteins and their annotated locations for NP_001166926.1

      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
      ENSP00000438550.1, ENST00000545074.5
      Conserved Domains (1) summary
      TIGR03182
      Location:58377
      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

      See identical proteins and their annotated locations for NP_001166927.1

      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
      ENSP00000440761.1, ENST00000540249.5
      Conserved Domains (1) summary
      cl01629
      Location:58339
      TPP_enzymes; Thiamine pyrophosphate (TPP) enzyme family, TPP-binding module; found in many key metabolic enzymes which use TPP (also known as thiamine diphosphate) as a cofactor. These enzymes include, among others, the E1 components of the pyruvate, the acetoin and ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      19343893..19361707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029574.1XP_016885063.1  pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      19393050..19410882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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