Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
4.1.1.21
Lyases;
Carbon-carbon lyases;
Carboxy-lyases;
phosphoribosylaminoimidazole carboxylase
6.3.2.6
Ligases;
Forming carbon-nitrogen bonds;
Acid—amino-acid ligases (peptide synthases);
phosphoribosylaminoimidazolesuccinocarboxamide synthase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2H31 | 2.8 | Crystal structure of human PAICS, a bifunctional carboxylase and synthetase in purine biosynthesis |
| 6YB8 | 2.36 | Human octameric PAICS in complex with CAIR and SAICAR |
| 6YB9 | 2.406 | Human octameric PAICS in complex with SAICAR, AMP-PNP, and magnesium |
| 7ALE | 2.95 | Crystal structure of human PAICS in complex with inhibitor 69 |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0044208 | 'de novo' AMP biosynthetic process |
| Biological Process | GO:0006189 | 'de novo' IMP biosynthetic process |
| Biological Process | GO:0097294 | 'de novo' XMP biosynthetic process |
| Biological Process | GO:0006177 | GMP biosynthetic process |
| Biological Process | GO:0009113 | purine nucleobase biosynthetic process |
| Molecular Function | GO:0043727 | 5-amino-4-imidazole carboxylate lyase activity |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0045296 | cadherin binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0004638 | phosphoribosylaminoimidazole carboxylase activity |
| Molecular Function | GO:0004639 | phosphoribosylaminoimidazolesuccinocarboxamide synthase activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0016020 | membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-73817 | Purine ribonucleoside monophosphate biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000248 | Brachycephaly |
| HP:0000316 | Hypertelorism |
| HP:0000369 | Low-set ears |
| HP:0000452 | Choanal stenosis |
| HP:0000453 | Choanal atresia |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000921 | Missing ribs |
| HP:0001561 | Polyhydramnios |
| HP:0001762 | Talipes equinovarus |
| HP:0002032 | Esophageal atresia |
| HP:0002575 | Tracheoesophageal fistula |
| HP:0003196 | Short nose |
| HP:0003811 | Neonatal death |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0004502 | Bilateral choanal atresia |
| HP:0005280 | Depressed nasal bridge |
| HP:0008439 | Lumbar hemivertebrae |
| HP:0008689 | Bilateral cryptorchidism |
| HP:0008743 | Coronal hypospadias |
| HP:0011461 | Fetal onset |
| HP:0012368 | Flat face |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular cells | High | Approved |
| appendix | lymphoid tissue | High | Approved |
| bone marrow | hematopoietic cells | High | Approved |
| breast | adipocytes | Medium | Approved |
| breast | glandular cells | High | Approved |
| breast | myoepithelial cells | High | Approved |
| bronchus | respiratory epithelial cells | High | Approved |
| caudate | glial cells | High | Approved |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | Medium | Approved |
| cerebellum | cells in granular layer | Medium | Approved |
| cerebellum | cells in molecular layer | Medium | Approved |
| cerebral cortex | endothelial cells | Medium | Approved |
| cerebral cortex | glial cells | High | Approved |
| cerebral cortex | neuropil | High | Approved |
| cervix | glandular cells | Medium | Approved |
| cervix | squamous epithelial cells | High | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | High | Approved |
| colon | peripheral nerve/ganglion | Medium | Approved |
| duodenum | glandular cells | High | Approved |
| endometrium 1 | cells in endometrial stroma | Medium | Approved |
| endometrium 1 | glandular cells | High | Approved |
| endometrium 2 | cells in endometrial stroma | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | High | Approved |
| esophagus | squamous epithelial cells | High | Approved |
| fallopian tube | glandular cells | High | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | Low | Approved |
| hippocampus | glial cells | High | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in glomeruli | Low | Approved |
| kidney | cells in tubules | High | Approved |
| liver | cholangiocytes | Medium | Approved |
| liver | hepatocytes | High | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | High | Approved |
| lymph node | non-germinal center cells | High | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | High | Approved |
| ovary | ovarian stroma cells | Medium | Approved |
| pancreas | exocrine glandular cells | High | Approved |
| parathyroid gland | glandular cells | High | Approved |
| placenta | trophoblastic cells | High | Approved |
| prostate | glandular cells | High | Approved |
| rectum | glandular cells | High | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | High | Approved |
| skeletal muscle | myocytes | Low | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | keratinocytes | High | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | High | Approved |
| small intestine | glandular cells | High | Approved |
| smooth muscle | smooth muscle cells | Medium | Approved |
| soft tissue 1 | fibroblasts | Medium | Approved |
| soft tissue 1 | peripheral nerve | Low | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| soft tissue 2 | peripheral nerve | Low | Approved |
| spleen | cells in red pulp | Medium | Approved |
| spleen | cells in white pulp | High | Approved |
| stomach 1 | glandular cells | High | Approved |
| stomach 2 | glandular cells | High | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | High | Approved |
| thyroid gland | glandular cells | High | Approved |
| tonsil | germinal center cells | High | Approved |
| tonsil | non-germinal center cells | High | Approved |
| tonsil | squamous epithelial cells | High | Approved |
| urinary bladder | urothelial cells | High | Approved |
| vagina | squamous epithelial cells | High | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| phosphoribosylaminoimidazole carboxylase deficiency | MONDO:0859244 | E79 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:619859 |