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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
argininosuccinate lyaseMIM:608310Ensembl:ENSG00000126522HGNC:HGNC:746PA250467q11.21

GO terms in ASL


Term TypeEvidence TypeGO Term IDGO Des.
CCIBAGO:0005737cytoplasm
CCTASGO:0005737cytoplasm
CCIBAGO:0005829cytosol
CCTASGO:0005829cytosol
CCHDAGO:0070062extracellular exosome
BPIBAGO:0000050urea cycle
BPIEAGO:0000050urea cycle
BPTASGO:0000050urea cycle
BPIBAGO:0042450arginine biosynthetic process via ornithine
MFEXPGO:0004056argininosuccinate lyase activity
MFIBAGO:0004056argininosuccinate lyase activity
MFIPIGO:0005515protein binding
MFIPIGO:0042802identical protein binding

Gene expression in normal tissue: ASL

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ASL


DatabasePathway IDPathway Des.
smpdbSMP00001Citrullinemia Type I
smpdbSMP00002Carbamoyl Phosphate Synthetase Deficiency
smpdbSMP00003Argininosuccinic Aciduria
smpdbSMP00020Arginine and Proline Metabolism
smpdbSMP00059Urea Cycle
smpdbSMP00067Aspartate Metabolism
smpdbSMP00175Canavan Disease
smpdbSMP00188Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)
smpdbSMP00192Hypoacetylaspartia
smpdbSMP00205Ornithine Transcarbamylase Deficiency (OTC Deficiency)
smpdbSMP00207Prolidase Deficiency (PD)
smpdbSMP00208Prolinemia Type II
smpdbSMP00357Argininemia
smpdbSMP00360Hyperprolinemia Type II
smpdbSMP00361Hyperprolinemia Type I
smpdbSMP00362Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
smpdbSMP00363Ornithine Aminotransferase Deficiency (OAT Deficiency)
smpdbSMP00504Creatine deficiency, guanidinoacetate methyltransferase deficiency
smpdbSMP00505Hyperornithinemia with gyrate atrophy (HOGA)
smpdbSMP00506Hyperornithinemia-hyperammonemia-homocitrullinuria [HHH-syndrome]
smpdbSMP00507L-arginine:glycine amidinotransferase deficiency
wikipathwaysWP106Alanine and aspartate metabolism
wikipathwaysWP497Urea cycle and metabolism of amino groups
kegghsa00220Arginine biosynthesis - Homo sapiens (human)
kegghsa00250Alanine, aspartate and glutamate metabolism - Homo sapiens (human)
humancycPWY-4983citrulline-nitric oxide cycle
humancycPWY-4984urea cycle
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-351202Metabolism of polyamines
reactomeR-HSA-70635Urea cycle
reactomeR-HSA-71291Metabolism of amino acids and derivatives

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259012

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ASL

​​​​