InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDHX

Summary

InnateDB Protein

IDBP-39517.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PDHX

Protein Name

pyruvate dehydrogenase complex, component X

Synonyms

DLDBP; E3BP; OPDX; PDX1; proX;

Species

Homo sapiens

Ensembl Protein

ENSP00000227868

InnateDB Gene

IDBG-39515 (PDHX)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Mitochondrion matrix.

Disease Associations

Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD) [MIM:245349]: A metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation. {ECO:0000269PubMed:9399911}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016746	transferase activity, transferring acyl groups

Biological Process

GO:0006090	pyruvate metabolic process
GO:0008152	metabolic process
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix

Protein Structure and Domains

PDB ID

InterPro

IPR000089 Biotin/lipoyl attachment
IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain
IPR004167 E3 binding
IPR011053 Single hybrid motif

PFAM

PF00364
PF00198
PF02817

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O00330

PhosphoSite