| URN | urn:agi-llid:158 |
|---|---|
| Connectivity | 18 |
| Name | Adsl |
| Description | adenylosuccinate lyase |
| Notes | Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
| Pathway | de novo purine biosynthetic pathway |
|---|---|
| 'Copy of 'de novo purine biosynthetic pathway' | |
| de novo purine biosynthetic pathwaylatest | |
| Copy of 'de novo purine biosynthetic pathwaylatest' | |
| Copy of 'de novo purine biosynthetic pathwaylatest' | |
| de novo purine biosynthetic pathway |
| GO Molecular Function | catalytic activity |
|---|---|
| lyase activity | |
| (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity | |
| N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity |
| GO Cellular Component | soluble fraction |
|---|---|
| cytoplasm | |
| cytosol | |
| mitochondrion |
| GO Biological Process | purine nucleotide metabolic process |
|---|---|
| purine nucleotide biosynthetic process | |
| purine ribonucleotide biosynthetic process | |
| purine ribonucleoside monophosphate biosynthetic process | |
| AMP biosynthetic process | |
| 'de novo' IMP biosynthetic process | |
| aerobic respiration | |
| response to nutrient | |
| response to hypoxia | |
| protein tetramerization |
| Ariadne Ontology | Purine metabolism |
|---|
| Group | Purine metabolism |
|---|---|
| catalytic activity | |
| purine nucleotide metabolic process | |
| purine nucleotide biosynthetic process | |
| purine ribonucleotide biosynthetic process | |
| purine ribonucleoside monophosphate biosynthetic process | |
| AMP biosynthetic process | |
| 'de novo' IMP biosynthetic process | |
| aerobic respiration | |
| response to nutrient | |
| response to hypoxia | |
| protein tetramerization | |
| lyase activity | |
| (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity | |
| N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity | |
| soluble fraction | |
| cytoplasm | |
| cytosol | |
| mitochondrion |
| MedScan ID | 158 |
|---|
| Hugo ID | 291 |
|---|
| Human chromosome position | 22q13.1 |
|---|
| LocusLink ID | 158 |
|---|---|
| 11564 | |
| 315150 |
| Alias | ASL |
|---|---|
| AMPS | |
| ASASE | |
| RP5-1042K10.8 | |
| adenylosuccinate lyase | |
| adenylosuccinase | |
| adenylosuccinate lyase 1 | |
| null | |
| test | |
| ADSL | |
| OTTHUMP00000028724 | |
| succino AMP-lyase | |
| succino AMP-lyases |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 608222 |
|---|---|
| 103050 |
| Mouse chromosome position | 15 46.0 cM |
|---|
| GO ID | 0070626 |
|---|---|
| 0004018 | |
| 0016829 | |
| 0006167 | |
| 0051262 | |
| 0006164 | |
| 0009168 | |
| 0005737 | |
| 0005829 | |
| 0003824 | |
| 0009060 | |
| 0006163 | |
| 0009152 | |
| 0007584 | |
| 0005739 | |
| 0005625 | |
| 0001666 | |
| 0006189 |
| Rat chromosome position | 7q34 |
|---|
| Swiss-Prot Accession | P30566 |
|---|---|
| Q71UA4 | |
| Q8VCD4 | |
| P54822 | |
| Q3TMB8 | |
| B0QY76 | |
| O75495 | |
| Q5TI34 |
| Unigene ID | Hs.75527 |
|---|---|
| Mm.38151 | |
| Rn.23276 |
| KEGG ID | hsa:158 |
|---|---|
| mmu:11564 | |
| rno:315150 |
| EC Number | 4.3.2.2 |
|---|
| Swiss-Prot ID | PUR8_HUMAN |
|---|---|
| Q8VCD4_MOUSE | |
| B0QY76_HUMAN |
| Cell Localization | Cytoplasm |
|---|
| IPI ID | IPI00220887 |
|---|---|
| IPI00942092 | |
| IPI00265471 | |
| IPI00026904 | |
| IPI00878077 | |
| IPI00308217 | |
| IPI00361216 |
| Homologene ID | 12 |
|---|
| RGD ID | 1307617 |
|---|
| MGI ID | 103202 |
|---|