Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
6.4.1.1
Ligases;
Forming carbon-carbon bonds;
Ligases that form carbon-carbon bonds (only sub-subclass identified to date);
pyruvate carboxylase
PDB | Resolution (Å) | PDB name |
---|---|---|
3BG3 | 2.8 | Crystal Structure of Human Pyruvate Carboxylase (missing the biotin carboxylase domain at the N-terminus) |
3BG9 | 3.0 | Crystal Structure of Human Pyruvate Carboxylase (missing the biotin carboxylase domain at the N-terminus) F1077A Mutant |
7WTA | 3.9 | Cryo-EM structure of human pyruvate carboxylase in apo state |
7WTB | 3.7 | Cryo-EM structure of human pyruvate carboxylase with acetyl-CoA |
7WTC | 4.0 | Cryo-EM structure of human pyruvate carboxylase with acetyl-CoA in the ground state |
7WTD | 3.9 | Cryo-EM structure of human pyruvate carboxylase with acetyl-CoA in the intermediate state 1 |
7WTE | 3.3 | Cryo-EM structure of human pyruvate carboxylase with acetyl-CoA in the intermediate state 2 |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0006734 | NADH metabolic process |
Biological Process | GO:0006739 | NADP metabolic process |
Biological Process | GO:0006094 | gluconeogenesis |
Biological Process | GO:0006629 | lipid metabolic process |
Biological Process | GO:0010629 | negative regulation of gene expression |
Biological Process | GO:0044794 | positive regulation by host of viral process |
Biological Process | GO:0006090 | pyruvate metabolic process |
Biological Process | GO:0019074 | viral RNA genome packaging |
Biological Process | GO:0019076 | viral release from host cell |
Molecular Function | GO:0005524 | ATP binding |
Molecular Function | GO:0009374 | biotin binding |
Molecular Function | GO:0042802 | identical protein binding |
Molecular Function | GO:0046872 | metal ion binding |
Molecular Function | GO:0004736 | pyruvate carboxylase activity |
Cellular Component | GO:0005737 | cytoplasm |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0005759 | mitochondrial matrix |
Cellular Component | GO:0005739 | mitochondrion |
InterPro | InterPro name |
---|---|
IPR000089 | Biotin/lipoyl attachment |
IPR000891 | Pyruvate carboxyltransferase |
IPR001882 | Biotin-binding site |
IPR003379 | Carboxylase, conserved domain |
IPR005479 | Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain |
IPR005481 | Biotin carboxylase-like, N-terminal domain |
IPR005482 | Biotin carboxylase, C-terminal |
IPR005930 | Pyruvate carboxylase |
IPR011053 | Single hybrid motif |
IPR011054 | Rudiment single hybrid motif |
IPR011761 | ATP-grasp fold |
IPR011764 | Biotin carboxylation domain |
IPR013785 | Aldolase-type TIM barrel |
IPR016185 | Pre-ATP-grasp domain superfamily |
Pfam | Pfam name |
---|---|
PF00289 | Biotin carboxylase, N-terminal domain |
PF00364 | Biotin-requiring enzyme |
PF00682 | HMGL-like |
PF02436 | Conserved carboxylase domain |
PF02785 | Biotin carboxylase C-terminal domain |
PF02786 | Carbamoyl-phosphate synthase L chain, ATP binding domain |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-196780 | Biotin transport and metabolism | Leaf | R-HSA-1430728 | Metabolism |
R-HSA-3371599 | Defective HLCS causes multiple carboxylase deficiency | Leaf | R-HSA-1643685 | Disease |
R-HSA-70263 | Gluconeogenesis | Leaf | R-HSA-1430728 | Metabolism |
Location | ECO term | Pubmed |
---|---|---|
Mitochondrion matrix | ECO:0000269 | PubMed:9585002 |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001943 | Hypoglycemia |
HP:0002049 | Proximal renal tubular acidosis |
HP:0002151 | Increased serum lactate |
HP:0002169 | Clonus |
HP:0002240 | Hepatomegaly |
HP:0002305 | Athetosis |
HP:0002415 | Leukodystrophy |
HP:0003128 | Lactic acidosis |
HP:0003348 | Hyperalaninemia |
HP:0003542 | Increased serum pyruvate |
HP:0003577 | Congenital onset |
HP:0003593 | Infantile onset |
HP:0006970 | Periventricular leukomalacia |
HP:0007190 | Neuronal loss in the cerebral cortex |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
pyruvate carboxylase deficiency, infantile form | MONDO:0018141 | E74 | chapter4, Endocrine, nutritional and metabolic diseases | Orphanet:353308 | |
pyruvate carboxylase deficiency, severe neonatal type | MONDO:0018142 | E74 | chapter4, Endocrine, nutritional and metabolic diseases | Orphanet:353314 | |
pyruvate carboxylase deficiency, benign type | MONDO:0018143 | E74 | chapter4, Endocrine, nutritional and metabolic diseases | Orphanet:353320 |