ID:PYC_HUMAN DESCRIPTION: RecName: Full=Pyruvate carboxylase, mitochondrial; EC=6.4.1.1; AltName: Full=Pyruvic carboxylase; Short=PCB; Flags: Precursor; FUNCTION: Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate. CATALYTIC ACTIVITY: ATP + pyruvate + HCO(3)(-) = ADP + phosphate + oxaloacetate. COFACTOR: Biotin. COFACTOR: Binds 1 manganese ion per subunit. PATHWAY: Carbohydrate biosynthesis; gluconeogenesis. SUBUNIT: Homotetramer. SUBCELLULAR LOCATION: Mitochondrion matrix. DISEASE: Defects in PC are the cause of pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]. PC deficiency leads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia. SIMILARITY: Contains 1 ATP-grasp domain. SIMILARITY: Contains 1 biotin carboxylation domain. SIMILARITY: Contains 1 biotinyl-binding domain. SIMILARITY: Contains 1 carboxyltransferase domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PC"; WEB RESOURCE: Name=Wikipedia; Note=Pyruvate carboxylase entry; URL="http://en.wikipedia.org/wiki/Pyruvate_carboxylase";
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 P11498
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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:0006090 pyruvate metabolic process GO:0006094 gluconeogenesis GO:0006629 lipid metabolic process GO:0006768 biotin metabolic process GO:0008152 metabolic process GO:0010629 negative regulation of gene expression GO:0019074 viral RNA genome packaging GO:0044791 positive regulation by host of viral release from host cell GO:0044794 positive regulation by host of viral process
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
