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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]
DLAT (Dihydrolipoamide S-Acetyltransferase) is a Protein Coding gene. Diseases associated with DLAT include Pyruvate Dehydrogenase E2 Deficiency and Primary Biliary Cirrhosis. Among its related pathways are Glucose metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and dihydrolipoyllysine-residue acetyltransferase activity. An important paralog of this gene is PDHX.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004742 | dihydrolipoyllysine-residue acetyltransferase activity | IEA,NAS | 3191998 |
GO:0005515 | protein binding | IPI | 15861126 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
GO:0030523 | dihydrolipoamide S-acyltransferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA | -- |
GO:0005759 | mitochondrial matrix | IEA,TAS | -- |
GO:0005967 | mitochondrial pyruvate dehydrogenase complex | NAS | 3191998 |
GO:0045254 | pyruvate dehydrogenase complex | IEA,IDA | 9242632 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Citrate cycle (TCA cycle) | ||
2 | Pyruvate metabolism and Citric Acid (TCA) cycle | ||
3 | Glucose metabolism | ||
4 | Metabolism |
.40
|
|
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006006 | glucose metabolic process | IEA | -- |
GO:0006086 | acetyl-CoA biosynthetic process from pyruvate | IEA,IBA | 21873635 |
GO:0006090 | pyruvate metabolic process | IEA,TAS | -- |
GO:0006099 | tricarboxylic acid cycle | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Lipoic acid | Approved, Investigational | Nutra | 0 | |||
Pyruvic acid | Approved, Investigational | Nutra | 0 | |||
Dihydrolipoate | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
acetyl-coa |
|
72-89-9 | ||||
Dihydrolipoamide |
|
3884-47-7 | ||||
S-Acetyldihydrolipoamide |
|
|
||||
S-Acetyldihydrolipoamide-E |
|
|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DLAT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DLAT 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | DLAT 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dlat 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DLAT 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DLAT 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dlat 30 |
|
||
Chicken (Gallus gallus) |
Aves | DLAT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DLAT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dlat 30 |
|
||
Str.13849 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398314 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dlat 30 31 |
|
OneToOne | |
Dr.2810 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10771 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007975 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5261 30 32 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | dlat-1 30 |
|
||
F23B12.5 32 |
|
|
|||
C30H6.7 32 |
|
|
|||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F04741g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER364W 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAT1 30 33 |
|
||
KGD2 31 |
|
OneToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G54220 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0410100 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.455 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | lat1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8267 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07659 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
668340 | Likely Benign: not provided | 112,045,946(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
669707 | Benign: not provided | 112,024,529(+) | A/T | ||
669710 | Benign: not provided | 112,024,530(+) | G/T | ||
669711 | Benign: not provided | 112,045,618(+) | A/G | INTRON_VARIANT | |
669860 | Benign: not provided | 112,033,802(+) | T/C | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2662119 | CNV | deletion | 23128226 |
esv2745077 | CNV | deletion | 23290073 |
esv3627749 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pyruvate dehydrogenase e2 deficiency |
|
|
primary biliary cirrhosis |
|
|
liver disease |
|
|
cholangitis |
|
|
autoimmune hepatitis |
|