CPS1 - carbamoyl-phosphate synthase 1 Gene

Homo sapiens

Also known as PHN; GATD6; CPSASE1

Gene ID: 1373 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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)	≥95%

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0711	Carglumic Acid	Activator	99.84%	Yes
HY-B0711R	Carglumic Acid (Standard)	Activator	/	Unkown

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-136128	H3B-120	Inhibitor	98.20%	Unkown
HY-137199	Pro-Phe-Arg-AMC		/	Unkown
HY-RS03115	CPS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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