ASL - argininosuccinate lyase Gene

Also Known as ASAL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 435

About ASL

Cytogenetic location: 7q11.21 Genomic coordinates (GRCh38): 7:66,075,819-66,093,576 (from NCBI)

This gene has 18 transcripts (splice variants), 214 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 45.2), kidney (RPKM 25.5) and 24 other tissues.

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]

ASL Products (4)

mRNA	Protein	Name
NM_000048.4	NP_000039.2	argininosuccinate lyase isoform 1
NM_001024943.2	NP_001020114.1	argininosuccinate lyase isoform 1
NM_001024944.2	NP_001020115.1	argininosuccinate lyase isoform 2
NM_001024946.2	NP_001020117.1	argininosuccinate lyase isoform 3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables argininosuccinate lyase activity	IDA IDA: Inferred from direct assay	9045711	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21988832	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in L-arginine biosynthetic process	IDA IDA: Inferred from direct assay	11747432	GOA
involved in arginine metabolic process	IDA IDA: Inferred from direct assay	9045711	GOA
involved in positive regulation of nitric oxide biosynthetic process	IMP IMP: Inferred from mutant phenotype	22081021	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ASL Protein Structure

Lyase_1

ASL_C2

0
100
200
300
400
464 a.a.

Protein Preferred Names	Protein Names
argininosuccinate lyase	argininosuccinase

ASL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ASL	P04424	NTAQ1	Homo sapiens	Q96HA8	Y2H Prey Pooling	25416956
Intra	ASL	P04424	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
Intra	ASL	P04424	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	ASL	P04424	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	25416956
Intra	ASL	P04424	ASL	Homo sapiens	P04424	Y2H	21988832
Intra	ASL	P04424	ASL	Homo sapiens	P04424	Y2H Array	31515488
Intra	ASL	P04424	ASL	Homo sapiens	P04424	Y2H Prey Pooling	32296183
Intra	ASL	P04424	ASL	Homo sapiens	P04424	Validated Y2H	32296183
Intra	ASL	P04424	ASL	Homo sapiens	P04424	Y2H Array	25416956
Intra	ASL	P04424	ASL	Homo sapiens	P04424	Y2H Array	25502805
Intra	ASL	P04424	ASL	Homo sapiens	P04424	Y2H Array	32296183
Intra	ASL	P04424	FBP1	Homo sapiens	P09467	Y2H	21988832
Intra	ASL	P04424	MCMBP	Homo sapiens	Q9BTE3-2	Validated Y2H	32296183
Intra	ASL	P04424	CSNK2A2	Homo sapiens	P19784	Y2H	21988832

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ASL Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75501	Argininosuccinate lyase Protein, Human (sf9, His-GST)	P04424 (M1-A464)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Argininosuccinic Aciduria	Argininosuccinate Lyase Deficiency Asl Deficiency Argininosuccinic Acid Lyase Deficiency Argininosuccinase Deficiency Argininosuccinic Acidemia Arginosuccinase Deficiency Asa Deficiency Argininosuccinicaciduria Asauria Deficiency Of Argininosuccinate Lyase Asld Arginino Succinase Deficiency Argininosuccinate Acidemia Inborn Error Of Urea Synthesis, Arginino Succinic Type Urea Cycle Disorder, Arginino Succinase Type Argininosuccinyl-Coa Lyase Deficiency Asa Argininosuccinatelyase Deficiency ARGINSA Aciduria Argininosuccinic Citrullinemia Argininosuccinic Acidaemia Metabolic Disorder Of Arginosuccinic Acid
Congenital Myasthenic Syndrome Associated With Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 4c CMS4C Cms Id Cms1d Congenital Myasthenic Syndrome Type Id Fim1 Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Type Id Cms1d, Formerly Cms Id, Formerly Myasthenia, Familial Infantile, 1, Formerly Fim1, Formerly Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency Familial Infantile Myasthenia 1 Cms1e Cms-Achrd Cms Ie Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome Type 1d Congenital Myasthenic Syndrome Type 1e Congenital Myasthenic Syndrome Type Ie Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency Myasthenia, Familial Infantile, 1 Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Ie
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Orotic Aciduria	Hereditary Orotic Aciduria Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency Uridine Monophosphate Synthase Deficiency Umps Deficiency Uridine Monophosphate Synthetase Deficiency Orotic Aciduria I Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency Oprt And Odc Deficiency Ump Synthase Deficiency Orotic Aciduria Ii Oroticaciduria 1 Orotic Aciduria Hereditary Orotic Aciduria Type 1 Hereditary Orotic Aciduria Without Megaloblastic Anemia Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency Ump Synthtase Deficiency Umps Orotidylic Decarboxylase Deficiency Orotic Aciduria 1 ORAC1 Aciduria, Orotic Hereditary Orotic Aciduria, Type 1 Orotic Aciduria Nos Orotaciduric Anaemia Orotic Aciduria Anaemia Orotic Aciduria Megaloblastic Anaemia
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ornithine Carbamoyltransferase Deficiency Ornithine Transcarbamylase Deficiency Otc Deficiency Ornithine Carbamoyltransferase Deficiency Disease OTCD Deficiency Of Citrulline Phosphorylase Oct Deficiency Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency Deficiency, Ornithine Carbamoyltransferase
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN
Lysinuric Protein Intolerance	LPI Dibasic Amino Aciduria Ii Hyperdibasic Aminoaciduria Dibasic Aminoaciduria 2 Dibasicamino Aciduria Ii Congenital Lysinuria Lpi - Lysinuric Protein Intolerance
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder
N-Acetylglutamate Synthase Deficiency	Nags Deficiency N-Acetylglutamate Synthetase Deficiency Hyperammonemia, Type Iii Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency NAGSD Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency N-Acetyl Glutamate Synthetase Deficiency Nag Synthetase Deficiency Deficiency, N-Acetylglutamate Synthase
Esophageal Lipoma	Lipoma Of Esophagus
Fumarase Deficiency	Fumaric Aciduria FMRD Fumarate Hydratase Deficiency Deficiency, Fumarase
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hhh Syndrome Ornithine Translocase Deficiency Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome HHHS Hhh Triple H Syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Ornithine Translocase Deficiency Syndrome Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome Ornt1 Deficiency Ornithine Carrier Deficiency Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome
Citrullinemia, Type Ii, Adult-Onset	Citrin Deficiency CTLN2 Citrullinemia Type Ii Adult-Onset Citrullinemia Type 2 Adult-Onset Type Ii Citrullinemia Citrullinemia, Adult-Onset Type Ii Adult-Onset Citrin Deficiency Adult-Onset Citrullinemia Type Ii Citrullinemia Type 2 Citrullinemia 2 Citrullinemia, Type Ii
Cerebral Creatine Deficiency Syndrome 3	Arginine:Glycine Amidinotransferase Deficiency Agat Deficiency Gatm Deficiency Creatine Deficiency Syndrome Due To Agat Deficiency L-Arginine:Glycine Amidinotransferase Deficiency CCDS3 L-Arginine:Glycine Aminidotransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 3
Pyrimidine Metabolic Disorder	Disorder Of Pyrimidine Metabolism Pyrimidine Metabolism Disorder
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0451A	Dopamine hydrochloride	Inhibitor	99.79%	Unkown
HY-B0451	Dopamine	Inhibitor	98.56%	Unkown

Pre-clinical Phase

Bioactive Molecules (16)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-113284	Succinyladenosine		99.43%	Unkown
HY-B0451AS4	Dopamine-d3 hydrochloride		99.88%	Unkown
HY-B0451AS7	Dopamine-d5 hydrochloride	Inhibitor	99.6%	Unkown
HY-B0451AS	Dopamine-d4 hydrochloride		99.99%	Unkown
HY-B0451AS1	Dopamine-13C6 hydrochloride		98.71%	Unkown
HY-B0451AS5	Dopamine-13C hydrochloride		99.74%	Unkown
HY-RS01095	ASL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-B0451AS6	Dopamine-13C,15N hydrochloride		99.02%	Unkown
HY-B0451AS2	Dopamine-d2 hydrochloride		99.6%	Unkown
HY-B0451AS3	Dopamine-d2-1 hydrochloride		/	Unkown
HY-RS00418	ADSL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W752476	Succinyladenosine-13C4		/	Unkown
HY-RS16982	Asl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18123	Adsl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23425	Asl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W416440	Esmolol acid hydrochloride	Antagonist	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ASL	VGNC	VGNC:81287
Rattus norvegicus	ASL	RGD	RGD:619974
Felis catus	ASL	VGNC	VGNC:107739
Mus musculus	ASL	MGD	MGI:88084
Others	ASL	NCBI