CPS1 - carbamoyl-phosphate synthase 1 Gene

Also Known as PHN; GATD6; CPSASE1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1373

About CPS1

Cytogenetic location: 2q34 Genomic coordinates (GRCh38): 2:210,477,685-210,679,107 (from NCBI)

This gene has 15 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in liver (RPKM 281.3), duodenum (RPKM 102.6) and 1 other tissue.

Summary

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]

CPS1 Products (4)

mRNA	Protein	Name
NM_001122633.3	NP_001116105.2	carbamoyl-phosphate synthase [ammonia], mitochondrial isoform b precursor
NM_001369256.1	NP_001356185.1	carbamoyl-phosphate synthase [ammonia], mitochondrial isoform d
NM_001369257.1	NP_001356186.1	carbamoyl-phosphate synthase [ammonia], mitochondrial isoform b precursor
NM_001875.5	NP_001866.2	carbamoyl-phosphate synthase [ammonia], mitochondrial isoform b precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables carbamoyl-phosphate synthase (ammonia) activity	EXP EXP: Inferred from Experiment	6249820	GOA
enables carbamoyl-phosphate synthase (ammonia) activity	IMP IMP: Inferred from mutant phenotype	8486760	GOA
enables metal ion binding	EXP EXP: Inferred from Experiment	26592762	GOA
enables modified amino acid binding	IDA IDA: Inferred from direct assay	20031578	GOA
enables potassium ion binding	EXP EXP: Inferred from Experiment	26592762	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12620389	GOA
enables small molecule binding	EXP EXP: Inferred from Experiment	26592762	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in carbamoyl phosphate biosynthetic process	IMP IMP: Inferred from mutant phenotype	7416778	GOA
involved in cellular response to ammonium ion	IMP IMP: Inferred from mutant phenotype	21120950	GOA
involved in homocysteine metabolic process	IDA IDA: Inferred from direct assay	20031578	GOA
involved in nitric oxide metabolic process	IMP IMP: Inferred from mutant phenotype	14718356	GOA
involved in response to lipopolysaccharide	IDA IDA: Inferred from direct assay	15897806	GOA
involved in triglyceride catabolic process	IMP IMP: Inferred from mutant phenotype	9711878	GOA
involved in vasodilation	IMP IMP: Inferred from mutant phenotype	14718356	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	18063578	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

CPS1 Protein Structure

CPSase_sm_chain

GATase

Biotin_carb_N

CPSase_L_D2

CPSase_L_D3

Biotin_carb_N

CPSase_L_D2

MGS

0
300
600
900
1200
1500 a.a.

Protein Preferred Names	Protein Names
carbamoyl-phosphate synthase [ammonia], mitochondrial	carbamoyl-phosphate synthase (ammonia)

CPS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CPS1	P31327	YWHAZ	Homo sapiens	P63104	Pull Down	15161933

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CPS1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71445	CPS1/CPSase I Protein, Human (sf9, His)	P31327 (S40-A1500)	≥ 90%, as determined by reducing SDS-PAGE.

CPS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81916	CPS1 Antibody (YA1661)	WB, IHC-P, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
Pulmonary Hypertension, Neonatal	Pulmonary Hypertension, Neonatal, Susceptibility To PHN Hypertension, Pulmonary, Neonatal, Susceptibility To
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
Pulmonary Hypertension	Primary Pulmonary Hypertension Hypertension Pulmonary Hypertension, Pulmonary Hypertension, Pulmonary, Primary Idiopathic Pulmonary Hypertension Idiopathic Pulmonary Arterial Hypertension Pulmonary Htn - [Hypertension]
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
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	CA5AD Hyperammonemia Due To Carbonic Anhydrase Va Deficiency Hyperammonemia
Small Intestine Adenocarcinoma	Small Intestinal Adenocarcinoma Adenocarcinoma Of Small Intestine Adenocarcinoma Of The Small Bowel Adenocarcinoma Of Small Bowel Adenocarcinoma Of Small Instestine Adenocarcinoma Of The Small Instestine Small Bowel Adenocarcinoma Adenocarcinoma Of The Small Intestine
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
Meconium Aspiration Syndrome	Neonatal Aspiration Of Meconium Meconium Aspiration Mas Meconium Aspiration Syndrome Of Newborn Meconium Inhalation Mas - [Meconium Aspiration Syndrome] Meconium Aspiration Nos Meconium Aspiration Syndrome Nos Meconium Pneumonitis Meconium Stained Liqueur Aspiration
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
Isovaleric Acidemia	Isovaleric Acid Coa Dehydrogenase Deficiency Isovaleryl-Coa Dehydrogenase Deficiency IVA Ivd Deficiency Acidemia, Isovaleric Isovaleric Aciduria Isovaleryl Coa Carboxylase Deficiency Isovaleric Acid-Coa Dehydrogenase Deficiency
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
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN
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
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
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
Pyrimidine Metabolic Disorder	Disorder Of Pyrimidine Metabolism Pyrimidine Metabolism Disorder
Barrett Esophagus	Barrett'S Esophagus Barrett Esophagus/Esophageal Adenocarcinoma Barrett Metaplasia Barrett'S Ulcer Of Esophagus Ulcerative Esophagitis Barrett'S Esophagus With Esophagitis Barrett'S Oesophagus Barretts Syndrome Barrett Syndrome BE Peptic Ulcer Of Esophagus Adenocarcinoma Of Esophagus
Glutaric Acidemia I	Glutaryl-Coa Dehydrogenase Deficiency GA1 Glutaric Acidemia Type 1 Glutaric Aciduria 1 Glutaric Aciduria Type 1 Glutaric Acidemia Type I Glutaric Aciduria, Type 1 Glutaric Aciduria I Ga I Glutaricaciduria, Type I Glutaryl-Coenzyme A Dehydrogenase Deficiency Glutaric Academia Type 1 Glutaric Aciduria Type I Ga-1 Gcdh Deficiency Ga 1 Glutaric Acidemia 1 Gcdhd Glutaric Aciduria, Type I Glutaricaciduria I Ga-I Glutaricaciduria, Type 1
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Crigler-Najjar Syndrome, Type I	Crigler-Najjar Syndrome Crigler-Najjar Syndrome Type 1 Bilirubin Udp Glucuronyl Transferase Deficiency Crigler Najjar Syndrome Crigler Najjar Syndrome, Type 1 Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Bilirubin-Ugt Deficiency Hyperbilirubinemia, Crigler-Najjar Type I Hblrcn1 Familial Nonhemolytic Unconjugated Hyperbilirubinemia Hereditary Unconjugated Hyperbilirubinemia Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 Bilirubin-Ugt Deficiency Type 1 Crigler-Najjar Syndrome 1 CN1 Cn-I Crigler-Najjar Syndrome Type I Hereditary Unconjugated Hyperbilirubinaemia Ugt Deficiency Bilirubin Glucuronosyltransferase Deficiency Crigler-Najjar Disease Or Syndrome Deficiency Of Glucuronosyltransferase Glucuronyl Transferase Deficiency Glucuronyltransferase Deficiency Udp Glucuronyl Transferase Deficiency Cns - [Crigler-Najjar Syndrome] Congenital Familial Nonhemolytic Jaundice

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-B0711	Carglumic Acid	Activator	99.90%	Yes
HY-B0711R	Carglumic Acid (Standard)	Activator	99.91%	Unkown

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-136128	H3B-120	Inhibitor	98.36%	Unkown
HY-183888	H3B-616	Inhibitor	/	Unkown
HY-RS03115	CPS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03445	CYP21A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10757	PM20D1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17488	Cps1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23946	Cps1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CPS1	VGNC	VGNC:27669
Rattus norvegicus	CPS1	RGD	RGD:2395
Mus musculus	CPS1	MGD	MGI:891996
Felis catus	CPS1	VGNC	VGNC:61139
Macaca mulatta	CPS1	VGNC	VGNC:71471
Canis familiaris	CPS1	VGNC	VGNC:39572
Others	CPS1	NCBI