Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
6.3.4.5
Ligases;
Forming carbon-nitrogen bonds;
Other carbon-nitrogen ligases;
argininosuccinate synthase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2NZ2 | 2.4 | Crystal structure of human argininosuccinate synthase in complex with aspartate and citrulline |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006953 | acute-phase response |
| Biological Process | GO:0007568 | aging |
| Biological Process | GO:0006526 | arginine biosynthetic process |
| Biological Process | GO:0000053 | argininosuccinate metabolic process |
| Biological Process | GO:0006531 | aspartate metabolic process |
| Biological Process | GO:0071418 | cellular response to amine stimulus |
| Biological Process | GO:0071230 | cellular response to amino acid stimulus |
| Biological Process | GO:0071242 | cellular response to ammonium ion |
| Biological Process | GO:0071320 | cellular response to cAMP |
| Biological Process | GO:0071549 | cellular response to dexamethasone stimulus |
| Biological Process | GO:0071377 | cellular response to glucagon stimulus |
| Biological Process | GO:0071499 | cellular response to laminar fluid shear stress |
| Biological Process | GO:0071222 | cellular response to lipopolysaccharide |
| Biological Process | GO:0071400 | cellular response to oleic acid |
| Biological Process | GO:0071356 | cellular response to tumor necrosis factor |
| Biological Process | GO:0071346 | cellular response to type II interferon |
| Biological Process | GO:0007623 | circadian rhythm |
| Biological Process | GO:0000052 | citrulline metabolic process |
| Biological Process | GO:0060539 | diaphragm development |
| Biological Process | GO:0001822 | kidney development |
| Biological Process | GO:0001889 | liver development |
| Biological Process | GO:0007494 | midgut development |
| Biological Process | GO:1903038 | negative regulation of leukocyte cell-cell adhesion |
| Biological Process | GO:0045429 | positive regulation of nitric oxide biosynthetic process |
| Biological Process | GO:0032355 | response to estradiol |
| Biological Process | GO:0060416 | response to growth hormone |
| Biological Process | GO:0010046 | response to mycotoxin |
| Biological Process | GO:0007584 | response to nutrient |
| Biological Process | GO:0009410 | response to xenobiotic stimulus |
| Biological Process | GO:0010043 | response to zinc ion |
| Biological Process | GO:0000050 | urea cycle |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0016597 | amino acid binding |
| Molecular Function | GO:0004055 | argininosuccinate synthase activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0015643 | toxic substance binding |
| Cellular Component | GO:0070852 | cell body fiber |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005783 | endoplasmic reticulum |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005764 | lysosome |
| Cellular Component | GO:0005741 | mitochondrial outer membrane |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0043204 | perikaryon |
| InterPro
|
InterPro name |
|---|---|
| IPR001518 | Argininosuccinate synthase |
| IPR014729 | Rossmann-like alpha/beta/alpha sandwich fold |
| IPR018223 | Argininosuccinate synthase, conserved site |
| IPR023434 | Argininosuccinate synthase, type 1 subfamily |
| IPR024074 | Argininosuccinate synthetase, catalytic/multimerisation domain body |
| Pfam
|
Pfam name |
|---|---|
| PF00764 | Arginosuccinate synthase |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-70635 | Urea cycle | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm, cytosol | ECO:0000305 | PubMed:27287393 |
| Cytoplasm, cytosol | ECO:0000305 | PubMed:28985504 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000737 | Irritability |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001254 | Lethargy |
| HP:0001259 | Coma |
| HP:0001263 | Global developmental delay |
| HP:0001297 | Stroke |
| HP:0001394 | Cirrhosis |
| HP:0001508 | Failure to thrive |
| HP:0001950 | Respiratory alkalosis |
| HP:0001951 | Episodic ammonia intoxication |
| HP:0001987 | Hyperammonemia |
| HP:0002013 | Vomiting |
| HP:0002038 | Protein avoidance |
| HP:0002181 | Cerebral edema |
| HP:0002240 | Hepatomegaly |
| HP:0003217 | Hyperglutaminemia |
| HP:0003218 | Oroticaciduria |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0003623 | Neonatal onset |
| HP:0005961 | Hypoargininemia |
| HP:0011966 | Elevated plasma citrulline |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Enhanced |
| adrenal gland | glandular cells | Medium | Enhanced |
| appendix | glandular cells | Low | Enhanced |
| breast | adipocytes | Low | Enhanced |
| bronchus | respiratory epithelial cells | Medium | Enhanced |
| caudate | neuronal cells | Low | Enhanced |
| cerebral cortex | neuronal cells | Low | Enhanced |
| cervix | glandular cells | Low | Enhanced |
| cervix | squamous epithelial cells | Low | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| esophagus | squamous epithelial cells | Low | Enhanced |
| fallopian tube | glandular cells | Medium | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| kidney | bowman's capsule | High | Enhanced |
| kidney | cells in glomeruli | Low | Enhanced |
| kidney | collecting ducts | Low | Enhanced |
| kidney | proximal tubules (cell body) | High | Enhanced |
| liver | hepatocytes | High | Enhanced |
| lung | alveolar cells type II | High | Enhanced |
| lung | endothelial cells | High | Enhanced |
| lung | macrophages | Medium | Enhanced |
| nasopharynx | respiratory epithelial cells | Medium | Enhanced |
| oral mucosa | squamous epithelial cells | Low | Enhanced |
| pancreas | exocrine glandular cells | Low | Enhanced |
| placenta | decidual cells | Medium | Enhanced |
| placenta | trophoblastic cells | Low | Enhanced |
| prostate | glandular cells | Low | Enhanced |
| rectum | glandular cells | Medium | Enhanced |
| salivary gland | glandular cells | Low | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skin 1 | cells in basal layer | High | Enhanced |
| skin 1 | endothelial cells | High | Enhanced |
| skin 1 | fibrohistiocytic cells | Low | Enhanced |
| skin 2 | cells in basal layer | High | Enhanced |
| skin 2 | endothelial cells | High | Enhanced |
| skin 2 | fibrohistiocytic cells | High | Enhanced |
| small intestine | glandular cells | Medium | Enhanced |
| testis | cells in seminiferous ducts | Medium | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| tonsil | squamous epithelial cells | Low | Enhanced |
| urinary bladder | urothelial cells | High | Enhanced |
| vagina | squamous epithelial cells | Low | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| acute neonatal citrullinemia type i | MONDO:0016600 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | Orphanet:247546 | |
| adult-onset citrullinemia type i | MONDO:0016601 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | Orphanet:247573 |