InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DLD

Summary

InnateDB Protein

IDBP-35814.6

Last Modified

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

Gene Symbol

DLD

Protein Name

dihydrolipoamide dehydrogenase

Synonyms

DLDD; DLDH; E3; GCSL; LAD; PHE3;

Species

Homo sapiens

Ensembl Protein

ENSP00000205402

InnateDB Gene

IDBG-35812 (DLD)

Protein Structure

UniProt Annotation

Function

Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction.

Subcellular Localization

Mitochondrion matrix.

Disease Associations

Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]: An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. {ECO:0000269PubMed:8506365, ECO:0000269PubMed:8968745, ECO:0000269PubMed:9934985}. 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 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: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

Cellular Component

GO:0005634	nucleus
GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix
GO:0005929	cilium
GO:0043159	acrosomal matrix

Protein Structure and Domains

PDB ID

InterPro

IPR000103 Pyridine nucleotide-disulphide oxidoreductase, class-II
IPR000815 Mercuric reductase
IPR001327 Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain
IPR002218 Glucose-inhibited division protein A-related
IPR003953 FAD binding domain
IPR004099 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
IPR006258 Dihydrolipoamide dehydrogenase
IPR013027 FAD-dependent pyridine nucleotide-disulphide oxidoreductase
IPR016156 FAD/NAD-linked reductase, dimerisation domain
IPR023753 Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain

PFAM

PF00070
PF01134
PF00890
PF02852
PF07992

PRINTS

PR00469
PR00945
PR00368

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P09622