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DLAT dihydrolipoamide S-acetyltransferase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001931 Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol DLAT
Entrez Gene ID 1737
Full Name dihydrolipoamide S-acetyltransferase
Synonyms DLTA, PDC-E2, PDCE2
General protein information
Preferred Names
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
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
NP_001922.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q23.1

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].
Disorder

MIM: 608770

Pyruvate dehydrogenase E2 deficiency, 245348 (3)

mRNA Protein Product Sequence Price Select
NM_001931, 260436925 NP_001922, 31711992 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor ORF Sequence $700.00
KEGG
hsa00020Citrate cycle (TCA cycle)
hsa00010Glycolysis / Gluconeogenesis
hsa00620Pyruvate metabolism
hsa_M00307Pyruvate oxidation, pyruvate => acetyl-CoA
hsa01200Carbon metabolism
WikiPathways
WP534Glycolysis and Gluconeogenesis
BIOCYC
META_PYRUVDEHYD-PWYpyruvate decarboxylation to acetyl CoA
HUMAN_PYRUVDEHYD-PWYpyruvate decarboxylation to acetyl CoA
Reactome
REACT_12528Regulation of pyruvate dehydrogenase (PDH) complex
REACT_2071Pyruvate metabolism
REACT_1046Pyruvate metabolism and Citric Acid (TCA) cycle
REACT_111217Metabolism
REACT_111083The citric acid (TCA) cycle and respiratory electron transport
Homo sapiens (human)DLATNP_001922.2
Pan troglodytes (chimpanzee)DLATXP_003313345.1
Macaca mulatta (Rhesus monkey)DLATXP_001107013.1
Canis lupus familiaris (dog)DLATXP_546524.2
Bos taurus (cattle)DLATNP_001192659.2
Mus musculus (house mouse)DlatNP_663589.3
Rattus norvegicus (Norway rat)DlatNP_112287.1
Gallus gallus (chicken)DLATXP_417933.3
Danio rerio (zebrafish)dlatNP_997832.1
Drosophila melanogaster (fruit fly)CG5261NP_001260196.1
Caenorhabditis elegansdlat-1NP_506579.1
Arabidopsis thaliana (thale cress)AT3G13930NP_566470.1
Arabidopsis thaliana (thale cress)AT1G54220NP_001031186.1
Xenopus (Silurana) tropicalis (western clawed frog)dlatNP_001016320.2
Process
IDNameEvidence
GO:0006006glucose metabolic processIEA
GO:0006090pyruvate metabolic processTAS
GO:0006099tricarboxylic acid cycleIEA
GO:0010510regulation of acetyl-CoA biosynthetic process from pyruvateTAS
GO:0044237cellular metabolic processTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005739mitochondrionIDA
GO:0005759mitochondrial matrixTAS
GO:0005967mitochondrial pyruvate dehydrogenase complexNAS
Function
IDNameEvidence
GO:0004742dihydrolipoyllysine-residue acetyltransferase activityNAS
GO:0005515protein bindingIPI
GeneCards DLAT
PDB 1Y8N, 1FYC, 2Q8I, 2PNR, 1Y8O, 3B8K, 1Y8P, 2DNE, 3CRK, 3CRL
UniProt Q86YI5, P10515
Vega OTTHUMG00000133751
MIM 608770
Ensembl ENSG00000150768
HGNC 2896
HPRD 10578

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the DLAT gene?

The DLAT gene provides instructions for making the E2 enzyme (also known as dihydrolipoamide acetyltransferase), which is part of a large group of proteins called the pyruvate dehydrogenase complex. This complex comprises multiple copies of three enzymes, including E2, and several related proteins. The E2 enzyme is the core to which the other proteins attach to form the complex.

The pyruvate dehydrogenase complex plays an important role in the pathways that convert the energy from food into a form that cells can use. This complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. The E2 enzyme performs one part of this chemical reaction. The conversion of pyruvate is essential to begin the series of chemical reactions that produces adenosine triphosphate (ATP), the cell's main energy source.

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