InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: DLD

Summary

InnateDB Gene

IDBG-35812.6

Last Modified

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

Gene Symbol

DLD

Gene Name

dihydrolipoamide dehydrogenase

Synonyms

DLDD; DLDH; E3; GCSL; LAD; PHE3

Species

Homo sapiens

Ensembl Gene

ENSG00000091140

Encoded Proteins

IDBP-35814

dihydrolipoamide dehydrogenase

IDBP-385070

dihydrolipoamide dehydrogenase

IDBP-385071

dihydrolipoamide dehydrogenase

IDBP-385072

dihydrolipoamide dehydrogenase

IDBP-385074

dihydrolipoamide dehydrogenase

IDBP-385075

dihydrolipoamide dehydrogenase

IDBP-385079

dihydrolipoamide dehydrogenase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. [provided by RefSeq, Jul 2008]
This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 7:107890970-107931730

Strand

Forward strand

Band

q31.1

Transcripts

ENST00000205402	ENSP00000205402
ENST00000417551	ENSP00000390667
ENST00000415325	ENSP00000402593
ENST00000440410	ENSP00000417016
ENST00000451081	ENSP00000388077
ENST00000450038	ENSP00000409590
ENST00000453354
ENST00000437604	ENSP00000387542
ENST00000485066
ENST00000460577
ENST00000494441
ENST00000478414
ENST00000489184

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	41 [view]
Protein-Protein	40 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004148	dihydrolipoyl dehydrogenase activity
GO:0016491	oxidoreductase activity
GO:0016668	oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor
GO:0050660	flavin adenine dinucleotide binding

Biological Process

GO:0006090	pyruvate metabolic process
GO:0006099	tricarboxylic acid cycle
GO:0006120	mitochondrial electron transport, NADH to ubiquinone
GO:0006508	proteolysis
GO:0006554	lysine catabolic process
GO:0007369	gastrulation
GO:0008033	tRNA processing
GO:0009083	branched-chain amino acid catabolic process
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate
GO:0034641	cellular nitrogen compound metabolic process
GO:0042391	regulation of membrane potential
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process
GO:0045454	cell redox homeostasis
GO:0048240	sperm capacitation
GO:0055114	oxidation-reduction process