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

Gene ID: 8050, updated on 26-Nov-2021

Summary

Official Symbol
PDHXprovided by HGNC
Official Full Name
pyruvate dehydrogenase complex component Xprovided by HGNC
Primary source
HGNC:HGNC:21350
See related
Ensembl:ENSG00000110435 MIM:608769
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; PDHXD
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]
Expression
Ubiquitous expression in heart (RPKM 24.7), testis (RPKM 13.6) and 25 other tissues See more
Orthologs
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Genomic context

See PDHX in Genome Data Viewer
Location:
11p13
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (34915829..34996128)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (34937677..35017675)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723568 Neighboring gene uncharacterized LOC105376625 Neighboring gene uncharacterized LOC105376624 Neighboring gene APAF1 interacting protein Neighboring gene microRNA 1343 Neighboring gene uncharacterized LOC105376626 Neighboring gene uncharacterized LOC105376627

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to pyruvate dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
part_of mitochondrial pyruvate dehydrogenase complex IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of pyruvate dehydrogenase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of pyruvate dehydrogenase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pyruvate dehydrogenase protein X component, mitochondrial
Names
dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex
lipoyl-containing pyruvate dehydrogenase complex component X
pyruvate dehydrogenase complex, E3-binding protein subunit
pyruvate dehydrogenase complex, lipoyl-containing component X

NCBI Reference Sequences (RefSeq)

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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 RefSeqGene

    Range
    5489..84999
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135024.2NP_001128496.2  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)
    AC107928, AL138810
    Consensus CDS
    CCDS44569.1
    Related
    ENSP00000389404.3, ENST00000448838.8
    Conserved Domains (1) summary
    TIGR01349
    Location:1440
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
  2. NM_001166158.2NP_001159630.1  pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor

    See identical proteins and their annotated locations for 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
    Related
    ENSP00000415695.2, ENST00000430469.6
    Conserved Domains (2) summary
    PRK11892
    Location:56114
    PRK11892; pyruvate dehydrogenase subunit beta; Provisional
    pfam00198
    Location:109273
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
  3. NM_003477.3NP_003468.2  pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for 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
    ENSP00000227868.4, ENST00000227868.9
    Conserved Domains (1) summary
    TIGR01349
    Location:58500
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    34915829..34996128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520390.1XP_011518692.1  pyruvate dehydrogenase protein X component, mitochondrial isoform X1

    Conserved Domains (1) summary
    TIGR01349
    Location:1440
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
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