NP_001074278.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
164,618 Da
NCBI Official Full Name
carbamoyl-phosphate synthase
NCBI Official Synonym Full Names
carbamoyl-phosphate synthetase 1
NCBI Protein Information
carbamoyl-phosphate synthase [ammonia], mitochondrial; carbamoyl-phosphate synthase [ammonia], mitochondrial; CPSase I; carbamoylphosphate synthetase I; carbamoyl-phosphate synthetase I
UniProt Protein Name
Carbamoyl-phosphate synthase [ammonia], mitochondrial
UniProt Synonym Protein Names
Carbamoyl-phosphate synthetase I; CPSase I
UniProt Synonym Gene Names
UniProt Entry Name
CPSM_MOUSE
NCBI Summary for CPS1
This gene encodes a protein localized to the inner mitochondrial matrix. The encoded protein plays a role in the detoxification of ammonia by catalyzing the first step in the urea cycle in which carbomyl-phosphate is synthesized from ammonia and bicarbonate. Carbamoyl-phosphate is subsequently converted to urea that is excreted by the kidneys. Deficiency of the encoded enzyme leads to an accumulation of ammonia in the blood. High levels of ammonia are toxic to the central nervous system and result in neurological disorders. [provided by RefSeq, Oct 2013]
UniProt Comments for CPS1
CPS1: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D). CPS1D is an autosomal recessive disorder of the urea cycle causing hyperammonemia. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. Genetic variations in CPS1 influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. Infants with neonatal pulmonary hypertension homozygous for Thr-1406 have lower L-arginine concentrations than neonates homozygous for Asn-1406. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Amino Acid Metabolism - alanine, aspartate and glutamate; Mitochondrial; EC 6.3.4.16; Ligase; Energy Metabolism - nitrogen; Amino Acid Metabolism - arginine and proline; Nucleolus
Cellular Component: protein complex; mitochondrion; cytoplasm; mitochondrial inner membrane; nucleus
Molecular Function: carbamoyl-phosphate synthase (ammonia) activity; protein binding; glutamate binding; carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity; metal ion binding; endopeptidase activity; nucleotide binding; protein complex binding; phospholipid binding; calcium ion binding; catalytic activity; ATP binding; ligase activity
Biological Process: nitrogen compound metabolic process; glycogen catabolic process; arginine biosynthetic process; metabolic process; glutamine catabolic process; triacylglycerol catabolic process; response to lipopolysaccharide; homocysteine metabolic process; positive regulation of vasodilation; proteolysis; nitric oxide metabolic process; anion homeostasis; urea cycle
Research Articles on CPS1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with CPS1 elisa kit
Diseases associated with CPS1 elisa kit
Organs/Tissues associated with CPS1 elisa kit
|