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

Gene ID: 5160, updated on 17-Apr-2014
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_000023.11 (19343893..19361707)
See PDHA1 in Epigenomics, MapViewer

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PHKA2 antisense RNA 1 Neighboring gene uncharacterized LOC101928415 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 FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Pyruvate dehydrogenase complex deficiency
MedGen: C0034345 OMIM: 312170 GeneReviews: Not available
Compare labs
X-linked Leigh syndrome
MedGen: C1839885 OMIM: 308930 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 
cellular metabolic process TAS
Traceable Author Statement
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
glycolytic process 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 IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
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

    See proteins identical to 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
    Related
    ENSP00000394382, OTTHUMP00000023015, ENST00000422285, OTTHUMT00000055977
    Conserved Domains (1) summary
    cd02000
    Location:64353
    Blast Score: 1044
    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 ...
  2. NM_001173454.1NP_001166925.1  pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 2 precursor

    See proteins identical to 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, ENST00000379806
    Conserved Domains (1) summary
    cd02000
    Location:102391
    Blast Score: 1053
    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 ...
  3. NM_001173455.1NP_001166926.1  pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3 precursor

    See proteins identical to 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, ENST00000545074
    Conserved Domains (1) summary
    cd02000
    Location:64360
    Blast Score: 1030
    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 ...
  4. NM_001173456.1NP_001166927.1  pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4 precursor

    See proteins identical to 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, ENST00000540249
    Conserved Domains (1) summary
    cd02000
    Location:64322
    Blast Score: 867
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11

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

mRNA and Protein(s)

  1. XM_006724495.1XP_006724558.1  

    Conserved Domains (1) summary
    cd02000
    Location:64329
    Blast Score: 852
    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 ...

Alternate HuRef

Genomic

  1. AC_000155.1 Alternate HuRef

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

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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