CPS1 Rabbit Monoclonal Antibody (CAB4214)

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CAB4214
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Description

Technical Manual

CPS1 Rabbit Monoclonal Antibody

Product Name:CPS1 Rabbit Monoclonal Antibody
Product SKU:CAB4214
Size:20uL, 50 uL
Host Species:Rabbit
Purification Method:Affinity purification
Isotype:IgG
Background:

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]

Immunogen:A synthesized peptide derived from human CPS1
Sequence:

Email for sequence

Gene ID:1373
Swiss Prot:P31327
Synonyms:CPSASE1; PHN
Calculated MW:150kDa
Observed MW:160KDa
Reactivity:Human, Mouse, Rat
Application:WB IHC IF
Recommended Dilution:WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3.
Application Key:Western blotting Immunohistochemistry Immunofluorescence 
Positive Samples:HeLa, Mouse liver, Rat liver
Cellular Location:

Product Images

CPS1 Rabbit Monoclonal Antibody (CAB4214)

Western blot - CPS1 Rabbit mAb (CAB4214)

Uniprot Information

UniProt Protein Function: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.
UniProt Protein Details:

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

Chromosomal Location of Human Ortholog: 2q35

Cellular Component: mitochondrial matrix

Molecular Function:aspartate carbamoyltransferase activity; carbamoyl-phosphate synthase (ammonia) activity; carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity; dihydroorotase activity; protein binding

Biological Process: 'de novo' pyrimidine base biosynthetic process; arginine biosynthetic process; glycogen catabolic process; homocysteine metabolic process; nitric oxide metabolic process; positive regulation of vasodilation; response to lipopolysaccharide; triacylglycerol catabolic process; urea cycle

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

NCBI 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]
UniProt Code:P31327
NCBI GenInfo Identifier:4033707
NCBI Gene ID:1373
NCBI Accession:P31327.2
UniProt Secondary Accession:P31327,O43774, Q53TL5, Q59HF8, Q7Z5I5, B7Z818, J3KQL0
UniProt Related Accession:P31327
Molecular Weight:165,650 Da
NCBI Full Name:Carbamoyl-phosphate synthase
NCBI 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
UniProt Synonym Protein Names:Carbamoyl-phosphate synthetase I; CPSase I
Protein Family:Carboxypeptidase
UniProt Gene Name:CPS1 
UniProt Entry Name:CPSM_HUMAN
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Additional Information

Product type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
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