ASL
Summary: This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
argininosuccinate lyase | MIM:608310 | Ensembl:ENSG00000126522 | HGNC:HGNC:746 | PA25046 | 7q11.21 |
GO terms in ASL
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IBA | GO:0005737 | cytoplasm |
CC | TAS | GO:0005737 | cytoplasm |
CC | IBA | GO:0005829 | cytosol |
CC | TAS | GO:0005829 | cytosol |
CC | HDA | GO:0070062 | extracellular exosome |
BP | IBA | GO:0000050 | urea cycle |
BP | IEA | GO:0000050 | urea cycle |
BP | TAS | GO:0000050 | urea cycle |
BP | IBA | GO:0042450 | arginine biosynthetic process via ornithine |
MF | EXP | GO:0004056 | argininosuccinate lyase activity |
MF | IBA | GO:0004056 | argininosuccinate lyase activity |
MF | IPI | GO:0005515 | protein binding |
MF | IPI | GO:0042802 | identical protein binding |
Gene expression in normal tissue: ASL
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ASL
Database | Pathway ID | Pathway Des. |
---|---|---|
smpdb | SMP00001 | Citrullinemia Type I |
smpdb | SMP00002 | Carbamoyl Phosphate Synthetase Deficiency |
smpdb | SMP00003 | Argininosuccinic Aciduria |
smpdb | SMP00020 | Arginine and Proline Metabolism |
smpdb | SMP00059 | Urea Cycle |
smpdb | SMP00067 | Aspartate Metabolism |
smpdb | SMP00175 | Canavan Disease |
smpdb | SMP00188 | Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency) |
smpdb | SMP00192 | Hypoacetylaspartia |
smpdb | SMP00205 | Ornithine Transcarbamylase Deficiency (OTC Deficiency) |
smpdb | SMP00207 | Prolidase Deficiency (PD) |
smpdb | SMP00208 | Prolinemia Type II |
smpdb | SMP00357 | Argininemia |
smpdb | SMP00360 | Hyperprolinemia Type II |
smpdb | SMP00361 | Hyperprolinemia Type I |
smpdb | SMP00362 | Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency) |
smpdb | SMP00363 | Ornithine Aminotransferase Deficiency (OAT Deficiency) |
smpdb | SMP00504 | Creatine deficiency, guanidinoacetate methyltransferase deficiency |
smpdb | SMP00505 | Hyperornithinemia with gyrate atrophy (HOGA) |
smpdb | SMP00506 | Hyperornithinemia-hyperammonemia-homocitrullinuria [HHH-syndrome] |
smpdb | SMP00507 | L-arginine:glycine amidinotransferase deficiency |
wikipathways | WP106 | Alanine and aspartate metabolism |
wikipathways | WP497 | Urea cycle and metabolism of amino groups |
kegg | hsa00220 | Arginine biosynthesis - Homo sapiens (human) |
kegg | hsa00250 | Alanine, aspartate and glutamate metabolism - Homo sapiens (human) |
humancyc | PWY-4983 | citrulline-nitric oxide cycle |
humancyc | PWY-4984 | urea cycle |
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-351202 | Metabolism of polyamines |
reactome | R-HSA-70635 | Urea cycle |
reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ASL