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Details of ASS1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ASS1 | ASS | P00966 | ASSY_HUMAN | 445 | ENSG00000130707 | Argininosuccinate synthase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Citrullinemia 1 (CTLN1) [MIM:215700]: The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood. Note=The disease is caused by mutations affecting the gene represented in this entry. | 215700 | ||||||||
Phenotypes
Abdominal symptom, Abnormal emotion/affect behavior, Abnormality of acid-base homeostasis, Abnormality of amino acid metabolism, Abnormality of arginine metabolism, Abnormality of body weight, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, Abnormality of coordination, Abnormality of fluid regulation, Abnormality of glutamine family amino acid metabolism, Abnormality of glutamine metabolism, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of nitrogen compound homeostasis, Abnormality of serum amino acid levels, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the forebrain, Abnormality of the genitourinary system, Abnormality of the hindbrain, Abnormality of the liver, Abnormality of the metencephalon, Abnormality of the nervous system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Aciduria, Age of onset, Alkalosis, All, Aminoaciduria, Ataxia, Autosomal recessive inheritance, Azotemia, Behavioural/Psychiatric Abnormality, Cerebral edema, Cirrhosis, Cognitive impairment, Coma, Decreased body weight, Edema, Episodic ammonia intoxication, Failure to thrive, Global developmental delay, Growth abnormality, Hepatomegaly, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Intellectual disability, Irritability, Lethargy, Mode of inheritance, Morphological abnormality of the central nervous system, Nausea and vomiting, Neonatal onset, Onset, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Protein avoidance, Reduced consciousness/confusion, Respiratory alkalosis, Seizures, Visceromegaly, Vomiting.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Ass1 | FBgn0026565 | --- | Sp-Ass | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| ASS1 | ADK | 0.134934115 | ASS1 | ADK | cpx149 | no | no | no | Novel |
| LDHB | ASS1 | 0.133900219 | LDHB | ASS1 | cpx135; cpx141 | no | no | no | Novel |
| PIR | ASS1 | 0.413716984 | PIR | ASS1 | cpx51; cpx141 | no | no | no | Novel |
| HTRA2 | ASS1 | 0.124303594 | HTRA2 | ASS1 | cpx51 | no | no | no | Novel |
| CENPK | ASS1 | 0.142556475 | CENPK | ASS1 | cpx149 | no | no | no | Novel |
| DAZAP1 | ASS1 | 0.109038453 | DAZAP1 | ASS1 | cpx2 | no | no | no | Novel |
| FSCN1 | ASS1 | 0.280600178 | FSCN1 | ASS1 | cpx54; cpx2 | no | no | no | Novel |
| KYNU | ASS1 | 0.542972221 | KYNU | ASS1 | cpx149 | no | no | no | Novel |
| DSTN | ASS1 | 0.026281552 | DSTN | ASS1 | cpx141 | no | no | no | Novel |
| FH | ASS1 | 0.149022055 | FH | ASS1 | cpx51; cpx141; cpx2 | no | no | no | Novel |
| TPI1 | ASS1 | 0.211442821 | TPI1 | ASS1 | cpx135 | no | no | no | Novel |
| PKM | ASS1 | 0.295702957 | PKM | ASS1 | cpx2; cpx51 | no | no | no | Novel |
| GSR | ASS1 | 0.237080678 | GSR | ASS1 | cpx51 | no | no | no | Novel |
| NANS | ASS1 | 0.159482343 | NANS | ASS1 | cpx51; cpx54 | no | yes | no | Known |
| GNB2L1 | ASS1 | 0.026780599 | GNB2L1 | ASS1 | cpx2 | no | no | no | Novel |
| COTL1 | ASS1 | 0.042863591 | COTL1 | ASS1 | cpx2 | no | no | no | Novel |
| PRDX1 | ASS1 | 0.092825269 | PRDX1 | ASS1 | cpx54 | no | no | no | Novel |
| MTAP | ASS1 | 0.373753998 | MTAP | ASS1 | cpx149 | no | no | no | Novel |
| ANXA11 | ASS1 | 0.080627274 | ANXA11 | ASS1 | cpx2 | no | no | no | Novel |
| PAICS | ASS1 | 0.213532277 | PAICS | ASS1 | cpx2; cpx54 | no | no | no | Novel |
| ASS1 | CARHSP1 | 0.046716889 | ASS1 | CARHSP1 | cpx2 | no | no | no | Novel |
| ASS1 | GNPDA2 | 0.068097647 | ASS1 | GNPDA2 | cpx51 | no | no | no | Novel |
| ASS1 | PDCD6IP | 0.115709294 | ASS1 | PDCD6IP | cpx54; cpx135 | no | no | no | Novel |
| ASS1 | PRDX2 | 0.36685657 | ASS1 | PRDX2 | cpx2; cpx54 | no | no | no | Novel |
| ASS1 | RBM12 | 0.061079049 | ASS1 | RBM12 | cpx2 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| ASS1 | TXN | 0.181951284 | ASS1 | TXN |
| ASS1 | TAGLN2 | 0.112732637 | ASS1 | TAGLN2 |
| GAPDH | ASS1 | 0.081025598 | GAPDH | ASS1 |
| ASS1 | RUVBL2 | 0.277500513 | ASS1 | RUVBL2 |
| ASS1 | TKT | 0.102418773 | ASS1 | TKT |
| ASS1 | ARHGDIA | 0.087507865 | ASS1 | ARHGDIA |
| PRDX6 | ASS1 | 0.10708336 | PRDX6 | ASS1 |
| GNPDA1 | ASS1 | 0.131149969 | GNPDA1 | ASS1 |
| HSPH1 | ASS1 | 0.100506504 | HSPH1 | ASS1 |
| ASS1 | KPNA2 | 0.077114838 | ASS1 | KPNA2 |
| ASS1 | ALDOA | 0.117310896 | ASS1 | ALDOA |
| ASS1 | PFKL | 0.077629741 | ASS1 | PFKL |
| PTGR1 | ASS1 | 0.104684433 | PTGR1 | ASS1 |
| PHGDH | ASS1 | 0.099905919 | PHGDH | ASS1 |
| ASNS | ASS1 | 0.106383743 | ASNS | ASS1 |
| ASS1 | STIP1 | 0.188847789 | ASS1 | STIP1 |