catalog number :
MBS2029067
products type :
Recombinant Protein
products full name :
Recombinant Argininosuccinate Synthetase 1 (ASS1)
products short name :
[Argininosuccinate Synthetase 1]
other names :
[argininosuccinate synthase; Argininosuccinate synthase; argininosuccinate synthase; argininosuccinate synthase 1; Citrulline--aspartate ligase]
products gene name :
[ASS1]
other gene names :
[ASS1; ASS1; ASS; CTLN1; ASS]
uniprot entry name :
ASSY_HUMAN
form :
20mM Tris, 150mM NaCl, pH8.0, containing 1mM EDTA, 1mM DTT, 0.01% SKL, 5% Trehalose and Proclin300.
concentration :
Original Concentration: 200ug/mL
storage stability :
Storage: Avoid repeated freeze/thaw cycles. Store at 2-8ºC for one month. Aliquot and store at -80ºC for 12 months. Stability Test: The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37°C for 48h, and no obvious degradation and precipitation were observed. The loss rate is less than 5% within the expiration date under appropriate storage condition.
tested application :
Positive Control; Immunogen; SDS-PAGE; Western Blot (WB)
app notes :
(May be suitable for use in other assays to be determined by the end user.)
image1 heading :
Sequence Information
image2 heading :
SDS-Page
other info1 :
Organism Species: Homo sapiens (Human). Source: Prokaryotic expression. Residues: Met1~Lys412. Tags: N-terminal His Tag. Subcellular Location: Cytoplasm
other info2 :
Traits: Freeze-dried powder. Predicted isoelectric point: 8.1. Usage: Reconstitute in 20mM Tris, 150mM NaCl (pH8.0) to a concentration of 0.1-1.0 mg/mL. Do not vortex.
ncbi acc num :
NP_000041.2
ncbi gb acc num :
NM_000050.4
ncbi mol weight :
Predicted Molecular Mass: 50.2kDa. Accurate Molecular Mass: 47kDa as determined by SDS-PAGE reducing conditions.
ncbi pathways :
Alanine And Aspartate Metabolism Pathway (198783); Alanine, Aspartate And Glutamate Metabolism Pathway (101142); Alanine, Aspartate And Glutamate Metabolism Pathway (100063); Arginine Biosynthesis Pathway (82943); Arginine Biosynthesis Pathway (306); Biosynthesis Of Amino Acids Pathway (790012); Biosynthesis Of Amino Acids Pathway (795174); Biosynthesis Of Antibiotics Pathway (1144997); L-citrulline-nitric Oxide Cycle Pathway (703105); Metabolic Pathways (132956)
ncbi summary :
The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
uniprot summary :
ASS1: Defects in ASS1 are the cause of citrullinemia type 1 (CTLN1). Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN1 usually manifests in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder CTLN1 form can develop later in childhood or adulthood. Belongs to the argininosuccinate synthase family. Type 1 subfamily. Protein type: Endoplasmic reticulum; Mitochondrial; Amino Acid Metabolism - arginine and proline; EC 6.3.4.5; Ligase; Amino Acid Metabolism - alanine, aspartate and glutamate. Chromosomal Location of Human Ortholog: 9q34.1. Cellular Component: mitochondrial outer membrane; lysosome; endoplasmic reticulum; cytoplasm; perikaryon; cytosol; nucleus. Molecular Function: toxin binding; amino acid binding; protein binding; argininosuccinate synthase activity; ATP binding. Biological Process: response to drug; positive regulation of nitric oxide biosynthetic process; response to mycotoxin; arginine biosynthetic process; citrulline metabolic process; liver development; response to estradiol stimulus; response to zinc ion; acute-phase response; midgut development; aspartate metabolic process; kidney development; argininosuccinate metabolic process; response to nutrient; aging; urea cycle. Disease: Citrullinemia, Classic