InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Dlat

Summary

InnateDB Gene

IDBG-163712.6

Last Modified

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

Gene Symbol

Dlat

Gene Name

dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)

Synonyms

Species

Mus musculus

Ensembl Gene

ENSMUSG00000000168

Encoded Proteins

IDBP-163714

dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000150768:
This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the 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 enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the 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 enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 9:50634633-50659780

Strand

Reverse strand

Band

A5.3

Transcripts

ENSMUST00000034567	ENSMUSP00000034567
ENSMUST00000126933
ENSMUST00000125919
ENSMUST00000132455
ENSMUST00000142275
ENSMUST00000155417

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 22 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	22 [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:0006086	acetyl-CoA biosynthetic process from pyruvate
GO:0006090	pyruvate metabolic process
GO:0006099	tricarboxylic acid cycle
GO:0008152	metabolic process