Rabbit anti-Human CPS1 Polyclonal Antibody | anti-CPS1 antibody

CPS1, NT (CPS1, Carbamoyl-phosphate synthase [ammonia], mitochondrial, Carbamoyl-phosphate synthetase I) (Biotin)

Cat. Num. AAA6288397

• Gene Names: CPS1; PHN; CPSASE1
• Reactivity: Human
• Applications: Western Blot, ELISA
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: CPS1; Polyclonal Antibody; NT (CPS1; Carbamoyl-phosphate synthase [ammonia]; mitochondrial; Carbamoyl-phosphate synthetase I) (Biotin); Carbamoyl-phosphate synthetase I; anti-CPS1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.

• Applicable Applications for anti-CPS1 antibody: Western Blot (WB), ELISA (EIA)
• Application Notes: WB: 1:100-500; ELISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: CPS1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 261-291 amino acids from the N-terminal region of human CPS1.
• Conjugate: Biotin
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(CPS1 Antibody (N-term) western blot analysis in Hela cell line lysates (35ug/lane).This demonstrates the CPS1 antibody detected the CPS1 protein (arrow).)

Related Product Information for anti-CPS1 antibody

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.

Product Categories/Family for anti-CPS1 antibody

Antibodies; Mitochondrial Proteins

References

Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010). Jia, P., et al. Schizophr. Res. 122 (1-3), 38-42 (2010): Pekkala, S., et al. Hum. Mutat. 31(7):801-808(2010). Huo, R., et al. J. Biochem. Mol. Biol. 38(1):28-33(2005). Hoshide, R., et al. Genomics 28(1):124-125(1995).

NCBI and Uniprot Product Information

• NCBI GI #: 169790915
• NCBI GeneID: 1373
• NCBI Accession #: NP_001116105.1; NP_001866.2; NP_001116106.1
• NCBI GenBank Nucleotide #: NM_001122633.2
• UniProt Accession #: P31327; O43774; Q53TL5; Q59HF8; Q7Z5I5; B7Z818; J3KQL0
• Molecular Weight: ~165kDa
• NCBI Official Full Name: carbamoyl-phosphate synthase
• NCBI Official Synonym Full Names: carbamoyl-phosphate synthase 1
• NCBI Official Symbol: CPS1
• NCBI Official Synonym Symbols: PHN; CPSASE1
• NCBI Protein Information: carbamoyl-phosphate synthase [ammonia], mitochondrial
• UniProt Protein Name: Carbamoyl-phosphate synthase [ammonia], mitochondrial
• Protein Family: Carboxypeptidase
• UniProt Gene Name: CPS1
• UniProt Synonym Gene Names: CPSase I
• UniProt Entry Name: CPSM_HUMAN

NCBI Description

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]

Uniprot Description

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 - arginine and proline; Mitochondrial; Nucleolus; Ligase; EC 6.3.4.16; Energy Metabolism - nitrogen; Amino Acid Metabolism - alanine, aspartate and glutamate

Chromosomal Location of Human Ortholog: 2q35

Cellular Component: protein complex; mitochondrial matrix; mitochondrial inner membrane; nucleolus

Molecular Function: carbamoyl-phosphate synthase (ammonia) activity; protein binding; glutamate binding; carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity; endopeptidase activity; protein complex binding; phospholipid binding; calcium ion binding; ATP binding

Biological Process: response to food; response to drug; glycogen catabolic process; arginine biosynthetic process; response to toxin; response to lipopolysaccharide; homocysteine metabolic process; positive regulation of vasodilation; proteolysis; response to amino acid stimulus; nitric oxide metabolic process; response to starvation; citrulline biosynthetic process; response to zinc ion; triacylglycerol catabolic process; glutamine catabolic process; midgut development; anion homeostasis; response to amine stimulus; urea cycle

Disease: Pulmonary Hypertension, Neonatal, Susceptibility To; Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To