ASS1 - argininosuccinate synthase 1 Gene

Also Known as ASS; CTLN1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 445

About ASS1

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:130,444,707-130,501,274 (from NCBI)

This gene has 10 transcripts (splice variants), 214 orthologues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 573.0), liver (RPKM 443.3) and 9 other tissues.

Summary

The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]

ASS1 Products (2)

mRNA	Protein	Name
NM_000050.4	NP_000041.2	argininosuccinate synthase
NM_054012.4	NP_446464.1	argininosuccinate synthase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables amino acid binding	IMP IMP: Inferred from mutant phenotype	7977368	GOA
enables argininosuccinate synthase activity	IMP IMP: Inferred from mutant phenotype	7977368	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12620389	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in L-arginine biosynthetic process	IMP IMP: Inferred from mutant phenotype	8792870	GOA
involved in argininosuccinate metabolic process	IMP IMP: Inferred from mutant phenotype	7977368	GOA
involved in aspartate metabolic process	IMP IMP: Inferred from mutant phenotype	7977368	GOA
involved in cellular response to laminar fluid shear stress	IMP IMP: Inferred from mutant phenotype	21106532	GOA
involved in circadian rhythm	IDA IDA: Inferred from direct assay	28985504	GOA
involved in citrulline metabolic process	IMP IMP: Inferred from mutant phenotype	7977368	GOA
involved in negative regulation of leukocyte cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	21106532	GOA
involved in positive regulation of nitric oxide biosynthetic process	IMP IMP: Inferred from mutant phenotype	21106532	GOA
involved in urea cycle	IMP IMP: Inferred from mutant phenotype	7977368	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	28985504	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

ASS1 Protein Structure

Arginosuc_synth

0
100
200
300
412 a.a.

Protein Preferred Names	Protein Names
argininosuccinate synthase	argininosuccinate synthetase 1

ASS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ASS1	P00966	PC	Homo sapiens	P11498	Anti Tag CoIP	33961781
Intra	ASS1	P00966	PC	Homo sapiens	P11498	Anti Tag CoIP	28514442
Intra	ASS1	P00966	ASS1	Homo sapiens	P00966	Y2H Pooling	16189514
Intra	ASS1	P00966	SIRT3	Homo sapiens	Q9NTG7	Anti Tag CoIP	33961781
Intra	ASS1	P00966	ASS1	Homo sapiens	P00966	Y2H Array	25416956
Intra	ASS1	P00966	ASS1	Homo sapiens	P00966	Y2H	21988832
Intra	ASS1	P00966	SIRT3	Homo sapiens	Q9NTG7	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ASS1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7613	ASS1 Protein, Human (His)	P00966 (M1-K412)	≥ 90%, as determined by reducing SDS-PAGE.

ASS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80551	ASS1 Antibody (YA607)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Rat
HY-P80551A	ASS1 Antibody (YA607)(PBS only)
HY-P83893	ASS1 Antibody (YA3590)	WB, ICC/IF, FC, ELISA	Human, Mouse, Rat, Monkey
HY-P83893A	ASS1 Antibody (YA3590)(PBS only)	WB, ICC/IF, FC, ELISA	Human, Mouse, Rat, Monkey

Related Diseases

Diseases	Alias
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
Acute Neonatal Citrullinemia Type I	Acute Neonatal Citrullinemia Type 1 Classic Citrullinemia Type 1 Classic Citrullinemia Type I
Adult-Onset Citrullinemia Type I	Adult-Onset Citrullinemia Type 1 Late-Onset Citrullinemia Type 1 Late-Onset Citrullinemia Type I
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
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
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
Lysinuric Protein Intolerance	LPI Dibasic Amino Aciduria Ii Hyperdibasic Aminoaciduria Dibasic Aminoaciduria 2 Dibasicamino Aciduria Ii Congenital Lysinuria Lpi - Lysinuric Protein Intolerance
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Carbamoyl Phosphate Synthetase I Deficiency Cps I Deficiency Carbamoyl Phosphate Synthetase I Deficiency Disease Carbamoyl-Phosphate Synthase I Deficiency Disease Congenital Hyperammonemia, Type I Carbamoylphosphate Synthetase I Deficiency Carbamoyl Phosphate Synthetase 1 Deficiency CPS1D Carbamoyl Phosphate Synthetase Deficiency Cps 1 Deficiency Carbamyl Phosphate Synthetase Deficiency Hyperammonemia Due To Carbamoyl Phosphate Synthetase 1 Deficiency Carbamyl-Phosphate Synthetase I Deficiency Disease Carbamoyl-Phosphate Synthetase 1 Deficiency Cps1 Deficiency Carbamoyl-Phosphate Synthetase I Deficiency Carbamoyl-Phosphate Synthetase Deficiency Hyperammonemia Due To Carbamoyl Phosphate Synthetase I Deficiency Deficiency, Carbamoylphosphate Synthetase I Carbamylphosphate Synthetase Deficiency
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
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	CA5AD Hyperammonemia Due To Carbonic Anhydrase Va Deficiency Hyperammonemia
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
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
Nail-Patella Syndrome	Turner-Kieser Syndrome Onychoosteodysplasia Fong Disease NPS Hereditary Onycho-Osteodysplasia Nps1 Hereditary Onychoostedysplasia Iliac Horn Syndrome Nail Patella Syndrome Turner-Kiser Syndrome Arthro-Onychodysplasia Nps 1 Osteo-Onychodysplasia Hereditary Osteo-Onychodysplasia Osterreicher Syndrome Pelvic Horn Syndrome Österreicher-Turner Syndrome Nps - [Nail-Patella Syndrome] Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
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
Pyrimidine Metabolic Disorder	Disorder Of Pyrimidine Metabolism Pyrimidine Metabolism Disorder
Hepatic Encephalopathy	Encephalopathy, Hepatic Portal-Systemic Encephalopathy Hepatoencephalopathy He - [Hepatic Encephalopathy] Hepatic Encephalopathy Nos Hepatic Encephalopathy, Stage Unspecified Hepatic Coma Hepatocerebral Encephalopathy Hepatocerebral Intoxication
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Myxofibrosarcoma	Fibromyxosarcoma Fibromyxoid Sarcoma Myxoid Malignant Fibrous Histiocytoma Dermatofibrosarcoma Protuberans, Myxoid
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
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

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-156112	LM2I	Activator	99.78%	Unkown
HY-RS01109	ASS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-181832	ASS1 activator 1		/	Unkown
HY-RS17217	Ass1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23669	Ass1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Bioactive MoleculesInhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992098	Adargiminase		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ASS1	MGD	MGI:88090
Canis familiaris	ASS1	VGNC	VGNC:38193
Bos taurus	ASS1	VGNC	VGNC:26224
Felis catus	ASS1	VGNC	VGNC:97361
Rattus norvegicus	ASS1	RGD	RGD:2163
Others	ASS1	NCBI