Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.1.3.2
Transferases;
Transferring one-carbon groups;
Carboxy- and carbamoyltransferases;
aspartate carbamoyltransferase
3.5.2.3
Hydrolases;
Acting on carbon-nitrogen bonds, other than peptide bonds;
In cyclic amides;
dihydroorotase
6.3.5.5
Ligases;
Forming carbon-nitrogen bonds;
Carbon-nitrogen ligases with glutamine as amido-N-donor;
carbamoyl-phosphate synthase (glutamine-hydrolysing)
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 4BY3 | 1.73 | Crystal structure of the dihydroorotase domain of human CAD in apo- form obtained recombinantly from E. coli. |
| 4C6B | 1.656 | Crystal structure of the dihydroorotase domain of human CAD with incomplete active site, obtained recombinantly from E. coli. |
| 4C6C | 1.451 | Crystal structure of the dihydroorotase domain of human CAD in apo- form obtained recombinantly from HEK293 cells. |
| 4C6D | 1.298 | Crystal structure of the dihydroorotase domain of human CAD bound to substrate at pH 6.0 |
| 4C6E | 1.263 | Crystal structure of the dihydroorotase domain of human CAD bound to substrate at pH 5.5 |
| 4C6F | 1.261 | Crystal structure of the dihydroorotase domain of human CAD bound to substrate at pH 6.5 |
| 4C6I | 1.35 | Crystal structure of the dihydroorotase domain of human CAD bound to substrate at pH 7.0 |
| 4C6J | 1.299 | Crystal structure of the dihydroorotase domain of human CAD bound to substrate at pH 7.5 |
| 4C6K | 1.478 | Crystal structure of the dihydroorotase domain of human CAD bound to substrate at pH 8.0 |
| 4C6L | 1.55 | Crystal structure of the dihydroorotase domain of human CAD bound to the inhibitor fluoroorotate at pH 6.0 |
| 4C6M | 1.62 | Crystal structure of the dihydroorotase domain of human CAD bound to the inhibitor fluoroorotate at pH 7.0 |
| 4C6N | 1.899 | Crystal structure of the dihydroorotase domain of human CAD E1637T mutant bound to substrate at pH 6.0 |
| 4C6O | 1.65 | Crystal structure of the dihydroorotase domain of human CAD C1613S mutant in apo-form at pH 6.0 |
| 4C6P | 1.518 | Crystal structure of the dihydroorotase domain of human CAD C1613S mutant in apo-form at pH 7.0 |
| 4C6Q | 1.659 | Crystal structure of the dihydroorotase domain of human CAD C1613S mutant bound to substrate at pH 7.0 |
| 5G1N | 2.1 | Aspartate transcarbamoylase domain of human CAD bound to PALA |
| 5G1O | 2.1 | Aspartate transcarbamoylase domain of human CAD in apo form |
| 5G1P | 3.19 | Aspartate transcarbamoylase domain of human CAD bound to carbamoyl phosphate |
| 5YNZ | 2.774 | Crystal structure of the dihydroorotase domain (K1556A) of human CAD |
| 6HFD | 1.86997 | Human dihydroorotase mutant F1563L apo structure |
| 6HFE | 1.47997 | Human dihydroorotase mutant F1563T apo structure |
| 6HFF | 1.51 | Human dihydroorotase mutant F1563Y apo structure |
| 6HFH | 1.44871 | Human dihydroorotase mutant F1563A co-crystallized with carbamoyl aspartate at pH 7.0 |
| 6HFI | 1.45995 | Human dihydroorotase mutant F1563A apo structure |
| 6HFJ | 1.2 | Human dihydroorotase mutant F1563A co-crystallized with carbamoyl aspartate at pH 7.5 |
| 6HFK | 1.45914 | Human dihydroorotase mutant F1563L co-crystallized with carbamoyl aspartate at pH 6.5 |
| 6HFL | 1.35 | Human dihydroorotase mutant F1563L co-crystallized with carbamoyl aspartate at pH 7.0 |
| 6HFN | 1.44965 | Human dihydroorotase mutant F1563L co-crystallized with carbamoyl aspartate at pH 7.5 |
| 6HFP | 1.19823 | Human dihydroorotase mutant F1563T co-crystallized with carbamoyl aspartate at pH 7.0 |
| 6HFQ | 1.14542 | Human dihydroorotase mutant F1563T co-crystallized with carbamoyl aspartate at pH 7.5 |
| 6HFR | 1.29949 | Human dihydroorotase mutant F1563Y co-crystallized with carbamoyl aspartate at pH 7.0 |
| 6HFS | 1.34905 | Human dihydroorotase mutant F1563Y co-crystallized with carbamoyl aspartate at pH 6.5 |
| 6HFU | 1.39971 | Human dihydroorotase mutant F1563Y co-crystallized with carbamoyl aspartate at pH 7.5 |
| 6HG1 | 2.12 | Hybrid dihydroorotase domain of human CAD with E. coli flexible loop in apo state |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0044205 | 'de novo' UMP biosynthetic process |
| Biological Process | GO:0006207 | 'de novo' pyrimidine nucleobase biosynthetic process |
| Biological Process | GO:0006225 | UDP biosynthetic process |
| Biological Process | GO:0006228 | UTP biosynthetic process |
| Biological Process | GO:0019240 | citrulline biosynthetic process |
| Biological Process | GO:0006541 | glutamine metabolic process |
| Biological Process | GO:0018107 | peptidyl-threonine phosphorylation |
| Biological Process | GO:0046777 | protein autophosphorylation |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0070335 | aspartate binding |
| Molecular Function | GO:0004070 | aspartate carbamoyltransferase activity |
| Molecular Function | GO:0004088 | carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity |
| Molecular Function | GO:0004151 | dihydroorotase activity |
| Molecular Function | GO:0019899 | enzyme binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0004672 | protein kinase activity |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:0042995 | cell projection |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0043025 | neuronal cell body |
| Cellular Component | GO:0016363 | nuclear matrix |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0043195 | terminal bouton |
| InterPro
|
InterPro name |
|---|---|
| IPR002082 | Aspartate carbamoyltransferase |
| IPR002195 | Dihydroorotase, conserved site |
| IPR002474 | Carbamoyl-phosphate synthase small subunit, N-terminal domain |
| IPR005479 | Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain |
| IPR005480 | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain |
| IPR005483 | Carbamoyl-phosphate synthase large subunit, CPSase domain |
| IPR006130 | Aspartate/ornithine carbamoyltransferase |
| IPR006131 | Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain |
| IPR006132 | Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding |
| IPR006274 | Carbamoyl-phosphate synthase, small subunit |
| IPR006275 | Carbamoyl-phosphate synthase, large subunit |
| IPR006680 | Amidohydrolase-related |
| IPR011059 | Metal-dependent hydrolase, composite domain superfamily |
| IPR011607 | Methylglyoxal synthase-like domain |
| IPR011761 | ATP-grasp fold |
| IPR013815 | ATP-grasp fold, subdomain 1 |
| IPR016185 | Pre-ATP-grasp domain superfamily |
| IPR017926 | Glutamine amidotransferase |
| IPR029062 | Class I glutamine amidotransferase-like |
| IPR032466 | Metal-dependent hydrolase |
| IPR035686 | Carbamoyl-phosphate synthase small subunit, GATase1 domain |
| IPR036480 | Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily |
| IPR036897 | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily |
| IPR036901 | Aspartate/ornithine carbamoyltransferase superfamily |
| IPR036914 | Methylglyoxal synthase-like domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00117 | Glutamine amidotransferase class-I |
| PF00185 | Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain |
| PF00988 | Carbamoyl-phosphate synthase small chain, CPSase domain |
| PF01979 | Amidohydrolase family |
| PF02142 | MGS-like domain |
| PF02729 | Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain |
| PF02786 | Carbamoyl-phosphate synthase L chain, ATP binding domain |
| PF02787 | Carbamoyl-phosphate synthetase large chain, oligomerisation domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-500753 | Pyrimidine biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:15890648 |
| Nucleus | ECO:0000269 | PubMed:15890648 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001508 | Failure to thrive |
| HP:0001903 | Anemia |
| HP:0001927 | Acanthocytosis |
| HP:0001947 | Renal tubular acidosis |
| HP:0001981 | Schistocytosis |
| HP:0001987 | Hyperammonemia |
| HP:0002014 | Diarrhea |
| HP:0002015 | Dysphagia |
| HP:0002133 | Status epilepticus |
| HP:0002136 | Broad-based gait |
| HP:0002283 | Global brain atrophy |
| HP:0002376 | Developmental regression |
| HP:0002465 | Poor speech |
| HP:0003218 | Oroticaciduria |
| HP:0003593 | Infantile onset |
| HP:0003676 | Progressive |
| HP:0003819 | Death in childhood |
| HP:0004823 | Anisopoikilocytosis |
| HP:0011463 | Childhood onset |
| HP:0012345 | Abnormal glycosylation |
| HP:0200134 | Epileptic encephalopathy |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| developmental and epileptic encephalopathy, 50 | MONDO:0014647 | E77 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:616457 | Orphanet:448010 |