InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DLAT

Summary

InnateDB Protein

IDBP-71183.6

Last Modified

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

Gene Symbol

DLAT

Protein Name

dihydrolipoamide S-acetyltransferase

Synonyms

DLTA; PDC-E2; PDCE2;

Species

Homo sapiens

Ensembl Protein

ENSP00000280346

InnateDB Gene

IDBG-71181 (DLAT)

Protein Structure

UniProt Annotation

Function

The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

Subcellular Localization

Mitochondrion matrix.

Disease Associations

Note=Primary biliary cirrhosis is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients' serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis show autoantibodies against the E2 component of pyruvate dehydrogenase complex.Pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:245348]: Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent. {ECO:0000269PubMed:16049940}. 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 28 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	28 [view]
Protein-Protein	28 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004742	dihydrolipoyllysine-residue acetyltransferase activity
GO:0005515	protein binding
GO:0016746	transferase activity, transferring acyl groups

Biological Process

GO:0006006	glucose metabolic process
GO:0006090	pyruvate metabolic process
GO:0006099	tricarboxylic acid cycle
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
GO:0005967	mitochondrial pyruvate dehydrogenase complex
GO:0045254	pyruvate dehydrogenase complex

Protein Structure and Domains

PDB ID

InterPro

IPR000089 Biotin/lipoyl attachment
IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain
IPR004167 E3 binding
IPR006257 Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex
IPR011053 Single hybrid motif

PFAM

PF00364
PF00198
PF02817

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P10515

PhosphoSite