Gene/Proteome Database (LMPD)

LMPD ID
LMP002413
Gene ID
1737
Species
Homo sapiens (Human)
Gene Name
dihydrolipoamide S-acetyltransferase
Gene Symbol
DLAT
Synonyms
DLTA; PDC-E2; PDCE2
Alternate Names
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial; PBC; M2 antigen complex 70 kDa subunit; pyruvate dehydrogenase complex component E2; E2 component of pyruvate dehydrogenase complex; 70 kDa mitochondrial autoantigen of primary biliary cirrhosis; dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial
Chromosome
11
Map Location
11q23.1
EC Number
2.3.1.12
Summary
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]
Orthologs
View orthologs and multiple alignments for DLAT

Proteins

dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor
Refseq ID NP_001922
Protein GI 31711992
UniProt ID P10515
mRNA ID NM_001931
Length 647
RefSeq Status REVIEWED
MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL
transit_peptide: 1..86 calculated_mol_wt: 9394 peptide sequence: MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYY mat_peptide: 87..647 product: dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial calculated_mol_wt: 59621 peptide sequence: SLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL

Gene Information

Entrez Gene ID
1737
Gene Name
dihydrolipoamide S-acetyltransferase
Gene Symbol
DLAT
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005759 TAS:Reactome C mitochondrial matrix
GO:0005967 NAS:UniProtKB C mitochondrial pyruvate dehydrogenase complex
GO:0005739 IDA:UniProt C mitochondrion
GO:0004742 NAS:UniProtKB F dihydrolipoyllysine-residue acetyltransferase activity
GO:0044237 TAS:Reactome P cellular metabolic process
GO:0006006 IEA:UniProtKB-KW P glucose metabolic process
GO:0006090 TAS:Reactome P pyruvate metabolic process
GO:0010510 TAS:Reactome P regulation of acetyl-CoA biosynthetic process from pyruvate
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006099 IEA:UniProtKB-KW P tricarboxylic acid cycle

KEGG Pathway Links

KEGG Pathway ID Description
hsa01200 Carbon metabolism
hsa00020 Citrate cycle (TCA cycle)
hsa00010 Glycolysis / Gluconeogenesis

Domain Information

InterPro Annotations

Accession Description
IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain
IPR003016 2-oxo acid dehydrogenase, lipoyl-binding site
IPR000089 Biotin/lipoyl attachment
IPR023213 Chloramphenicol acetyltransferase-like domain
IPR006257 Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex
IPR004167 E3-binding domain
IPR011053 Single hybrid motif

UniProt Annotations

Entry Information

Gene Name
dihydrolipoamide S-acetyltransferase
Protein Entry
ODP2_HUMAN
UniProt ID
P10515
Species
Human

Comments

Comment Type Description
Catalytic Activity Acetyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-acetyldihydrolipoyl)lysine.
Cofactor Name=(R)-lipoate; Xref=ChEBI
Disease 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.
Disease Pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM
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.
Interaction P11177:PDHB; NbExp=7; IntAct=EBI-2959723, EBI-1035872;
Sequence Caution Sequence=AAA62253.1; Type=Frameshift; Positions=449, 451, 455; Evidence= ; Sequence=AAA62253.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence= ;
Similarity Belongs to the 2-oxoacid dehydrogenase family.
Similarity Contains 2 lipoyl-binding domains.
Subcellular Location Mitochondrion matrix.
Subunit Part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules. Interacts with PDK2 and PDK3. {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP002413 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
31711992 RefSeq NP_001922 647 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor

Identical Sequences to LMP002413 proteins

Reference Database Accession Length Protein Name
GI:31711992 DBBJ BAG51900.1 647 unnamed protein product [Homo sapiens]
GI:31711992 GenBank ABM86584.1 647 dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex), partial [synthetic construct]
GI:31711992 GenBank ACA05975.1 647 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial precursor [Homo sapiens]
GI:31711992 GenBank AEF74554.1 647 Sequence 33 from patent US 7939271
GI:31711992 GenBank AHD77545.1 647 Sequence 23674 from patent US 8586006
GI:31711992 SwissProt P10515.3 647 RecName: Full=Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial; AltName: Full=70 kDa mitochondrial autoantigen of primary biliary cirrhosis; Short=PBC; AltName: Full=Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; AltName: Full=M2 antigen complex 70 kDa subunit; AltName: Full=Pyruvate dehydrogenase complex component E2; Short=PDC-E2; Short=PDCE2; Flags: Precursor [Homo sapiens]

Related Sequences to LMP002413 proteins

Reference Database Accession Length Protein Name
GI:31711992 GenBank EAW67174.1 647 dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex), isoform CRA_a [Homo sapiens]
GI:31711992 GenBank EAW67175.1 647 dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex), isoform CRA_a [Homo sapiens]
GI:31711992 GenBank ADA19425.1 647 Sequence 1249 from patent US 7608413
GI:31711992 GenBank ADA19426.1 647 Sequence 1250 from patent US 7608413
GI:31711992 GenBank AEN35321.1 647 Sequence 1249 from patent US 7998689
GI:31711992 GenBank AEN35322.1 647 Sequence 1250 from patent US 7998689