Human Gene DLAT (ENST00000280346.11) from GENCODE V44
Description: Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001931) RefSeq Summary (NM_001931): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000280346.11 Gencode Gene: ENSG00000150768.17 Transcript (Including UTRs) Position: hg38 chr11:112,025,408-112,064,404 Size: 38,997 Total Exon Count: 14 Strand: + Coding Region Position: hg38 chr11:112,025,473-112,062,535 Size: 37,063 Coding Exon Count: 14
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q86YI5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006086 acetyl-CoA biosynthetic process from pyruvate GO:0006090 pyruvate metabolic process GO:0008152 metabolic process GO:0030431 sleep
BioCyc Knowledge Library PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle PYRUVDEHYD-PWY - pyruvate decarboxylation to acetyl CoA
US Server
