Gene/Proteome Database (LMPD)

LMPD ID
LMP000701
Gene ID
8050
Species
Homo sapiens (Human)
Gene Name
pyruvate dehydrogenase complex, component X
Gene Symbol
PDHX
Synonyms
DLDBP; E3BP; OPDX; PDX1; proX
Alternate 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
Chromosome
11
Map Location
11p13
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]
Orthologs
View orthologs and multiple alignments for PDHX

Proteins

pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor
Refseq ID NP_003468
Protein GI 203098753
UniProt ID O00330
mRNA ID NM_003477
Length 501
RefSeq Status REVIEWED
MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKILMPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSLDASQGTATGPRGIFTKEDALKLVQLKQTGKITESRPTPAPTATPTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPHAYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA
transit_peptide: 1..53 calculated_mol_wt: 6116 peptide sequence: MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLR mat_peptide: 54..274 product: pyruvate dehydrogenase protein X component, mitochondrial isoform 3 calculated_mol_wt: 23808 peptide sequence: GDPIKILMPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA
pyruvate dehydrogenase protein X component, mitochondrial isoform 2
Refseq ID NP_001128496
Protein GI 203098816
UniProt ID O00330
mRNA ID NM_001135024
Length 486
RefSeq Status REVIEWED
MQSGGAEGSPGAGRTGRGPGSGKAPPAEISSGAPDFPGGDPIKILMPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSLDASQGTATGPRGIFTKEDALKLVQLKQTGKITESRPTPAPTATPTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPHAYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA
pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor
Refseq ID NP_001159630
Protein GI 260898739
UniProt ID O00330
mRNA ID NM_001166158
Length 274
RefSeq Status REVIEWED
MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKILMPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA

Gene Information

Entrez Gene ID
8050
Gene Name
pyruvate dehydrogenase complex, component X
Gene Symbol
PDHX
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005759 TAS:Reactome C mitochondrial matrix
GO:0016746 IEA:InterPro F transferase activity, transferring acyl groups
GO:0044237 TAS:Reactome P cellular metabolic process
GO:0006090 TAS:Reactome P pyruvate metabolic process
GO:0010510 TAS:Reactome P regulation of acetyl-CoA biosynthetic process from pyruvate
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa01100 Metabolic pathways

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_2071 Pyruvate metabolism
REACT_12528 Regulation of pyruvate dehydrogenase (PDH) complex

Domain Information

InterPro Annotations

Accession Description
IPR003016 2-oxo acid dehydrogenase, lipoyl-binding site
IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain
IPR000089 Biotin/lipoyl attachment
IPR023213 Chloramphenicol acetyltransferase-like domain
IPR004167 E3-binding domain
IPR011053 Single hybrid motif

UniProt Annotations

Entry Information

Gene Name
pyruvate dehydrogenase complex, component X
Protein Entry
ODPX_HUMAN
UniProt ID
O00330
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O00330-1; Sequence=Displayed; Name=2; IsoId=O00330-2; Sequence=VSP_045271; Note=No experimental confirmation available.; Name=3; IsoId=O00330-3; Sequence=VSP_053817; Note=No experimental confirmation available. Gene prediction based on EST data.;
Disease Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD) [MIM
Function Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex.
Similarity Belongs to the 2-oxoacid dehydrogenase family.
Similarity Contains 1 lipoyl-binding domain.
Subcellular Location Mitochondrion matrix.
Subunit Part of the inner core of the multimeric pyruvate dehydrogenase complex that is composed of about 48 DLAT and 12 PDHX molecules. This core binds multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP000701 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
203098753 RefSeq NP_003468 501 pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor
203098816 RefSeq NP_001128496 486 pyruvate dehydrogenase protein X component, mitochondrial isoform 2
260898739 RefSeq NP_001159630 274 pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor

Identical Sequences to LMP000701 proteins

Reference Database Accession Length Protein Name
GI:203098753 EMBL CAC18649.1 501 lipoyl-containing component X [Homo sapiens]
GI:203098753 GenBank EAW68158.1 501 pyruvate dehydrogenase complex, component X, isoform CRA_a [Homo sapiens]
GI:203098753 GenBank EAW68160.1 501 pyruvate dehydrogenase complex, component X, isoform CRA_a [Homo sapiens]
GI:260898739 RefSeq XP_004050984.1 274 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform 3 [Gorilla gorilla gorilla]
GI:203098753 SwissProt O00330.3 501 RecName: Full=Pyruvate dehydrogenase protein X component, mitochondrial; AltName: Full=Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex; AltName: Full=E3-binding protein; Short=E3BP; AltName: Full=Lipoyl-containing pyruvate dehydrogenase complex component X; AltName: Full=proX; Flags: Precursor [Homo sapiens]

Related Sequences to LMP000701 proteins

Reference Database Accession Length Protein Name
GI:260898739 DBBJ BAG62924.1 274 unnamed protein product [Homo sapiens]
GI:203098753 EMBL CAA73606.1 501 protein X [Homo sapiens]
GI:203098753 GenBank AAC39661.1 501 pyruvate dehydrogenase complex protein X subunit precursor [Homo sapiens]
GI:203098753 GenBank ACM84148.1 513 Sequence 9646 from patent US 6812339
GI:203098753 GenBank AEU53510.1 501 Sequence 141 from patent US 8062891
GI:203098816 GenBank AEU53510.1 501 Sequence 141 from patent US 8062891
GI:203098753 GenBank AFD50127.1 501 Sequence 5 from patent US 8131479
GI:203098753 GenBank AGO72463.1 501 Sequence 141 from patent US 8470972
GI:203098816 RefSeq XP_003254455.1 486 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform 2 [Nomascus leucogenys]
GI:260898739 RefSeq XP_003254456.1 274 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform 3 [Nomascus leucogenys]
GI:203098816 RefSeq XP_003830423.1 486 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform X3 [Pan paniscus]
GI:203098816 RefSeq XP_004050983.1 486 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform 2 [Gorilla gorilla gorilla]
GI:260898739 RefSeq XP_004369846.1 274 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform 2 [Trichechus manatus latirostris]
GI:203098816 RefSeq XP_005578270.1 485 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform X2 [Macaca fascicularis]
GI:260898739 RefSeq XP_005578271.1 274 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform X3 [Macaca fascicularis]
GI:260898739 RefSeq XP_008954099.1 274 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform X2 [Pan paniscus]
GI:260898739 RefSeq XP_009458411.1 274 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform X1 [Pan troglodytes]
GI:203098816 RefSeq XP_009458412.1 486 PREDICTED: pyruvate dehydrogenase protein X component, mitochondrial isoform X2 [Pan troglodytes]