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PDHX pyruvate dehydrogenase complex, component X [ Homo sapiens (human) ]

Gene ID: 8050, updated on 26-Nov-2014
Official Symbol
PDHXprovided by HGNC
Official Full Name
pyruvate dehydrogenase complex, component Xprovided by HGNC
Primary source
HGNC:HGNC:21350
See related
Ensembl:ENSG00000110435; HPRD:02002; MIM:608769; Vega:OTTHUMG00000166491
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
E3BP; OPDX; PDX1; proX; DLDBP
Summary
The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
See PDHX in Epigenomics, MapViewer
Location:
11p13
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (34916130..34996128)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (34937677..35017675)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 3 Neighboring gene uncharacterized LOC102723568 Neighboring gene APAF1 interacting protein Neighboring gene microRNA 1343 Neighboring gene uncharacterized LOC100507144 Neighboring gene CD44 molecule (Indian blood group) Neighboring gene solute carrier family 1 (glial high affinity glutamate transporter), member 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transferase activity, transferring acyl groups IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular metabolic process TAS
Traceable Author Statement
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
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
Preferred Names
pyruvate dehydrogenase protein X component, mitochondrial
Names
pyruvate dehydrogenase protein X component, mitochondrial
pyruvate dehydrogenase complex, E3-binding protein subunit
lipoyl-containing pyruvate dehydrogenase complex component X
pyruvate dehydrogenase complex, lipoyl-containing component X
dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex

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_013368.1 

    Range
    5001..84999
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135024.1NP_001128496.1  pyruvate dehydrogenase protein X component, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 5' region, resulting in upstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, as compared to isoform 1.
    Source sequence(s)
    AA282215, BI915296, DA573433, U79296
    Consensus CDS
    CCDS44569.1
    UniProtKB/Swiss-Prot
    O00330
    Related
    ENSP00000389404, OTTHUMP00000233038, ENST00000448838, OTTHUMT00000390016
    Conserved Domains (4) summary
    cd06849
    Location:42116
    lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...
    TIGR01349
    Location:43485
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    pfam00198
    Location:276485
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
    pfam02817
    Location:166203
    E3_binding; e3 binding domain
  2. NM_001166158.1NP_001159630.1  pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor

    See proteins identical to NP_001159630.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple in-frame exons in the central coding region, compared to variant 1, resulting in a protein (isoform 3) that lacks 227 aa, compared to isoform 1.
    Source sequence(s)
    AA282215, AC107928, AF001437, BC010389
    Consensus CDS
    CCDS53616.1
    UniProtKB/Swiss-Prot
    O00330
    Conserved Domains (3) summary
    cd06849
    Location:57114
    lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...
    PRK11856
    Location:56273
    PRK11856; branched-chain alpha-keto acid dehydrogenase subunit E2; Reviewed
    pfam00198
    Location:109273
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
  3. NM_003477.2NP_003468.2  pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor

    See proteins identical to NP_003468.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA282215, AC107928, AF001437, BC010389
    Consensus CDS
    CCDS7896.1
    UniProtKB/Swiss-Prot
    O00330
    Related
    ENSP00000227868, OTTHUMP00000233039, ENST00000227868, OTTHUMT00000390017
    Conserved Domains (4) summary
    cd06849
    Location:57131
    lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...
    TIGR01349
    Location:58500
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    pfam00198
    Location:291500
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
    pfam02817
    Location:181218
    E3_binding; e3 binding domain

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_000011.10 

    Range
    34916130..34996128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    34935934..35015929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    34636155..34716134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)