Human ASS1 Recombinant Protein (RPPB1426)
- SKU:
- RPPB1426
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P00966
- Research Area:
- Enzymes
Description
| Product Name: | Human ASS1 Recombinant Protein |
| Product Code: | RPPB1426 |
| Size: | 10µg |
| Species: | Human |
| Target: | ASS1 |
| Synonyms: | ASS, CTLN1, EC 6.3.4.5, ASS1, Argininosuccinate Synthase 1. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile filtered colorless solution. |
| Formulation: | ASS1 Human 0.5mg/ml solution containing 20mM Tris-HCl pH-8, 0.1M NaCl, 1mM DTT & 20% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 90.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK |
ASS1 is involved in the urea cycle, which is a sequence of chemical reactions that is localized in liver cells. The urea cycle processes excess nitrogen that is generated as the body uses proteins. The surplus nitrogen is used to create a molecule called urea, which is excreted from the body in urine.
ASS1 Recombinant Human produced in E.Coli is a single, non-glycosylated polypeptide chain containing 432 amino acids (1-412 a.a.) and having a molecular mass of 48.6 kDa. The ASS1 is fused to a 20 amino acids His-Tag at N-terminus and purified by proprietary chromatographic techniques.
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:Amino Acid Metabolism - alanine, aspartate and glutamate; Ligase; EC 6.3.4.5; Mitochondrial; Endoplasmic reticulum; Amino Acid Metabolism - arginine and proline Chromosomal Location of Human Ortholog: 9q34.1 Cellular Component: cytoplasm; cytosol Molecular Function:amino acid binding; argininosuccinate synthase activity; identical protein binding; protein binding Biological Process: arginine biosynthetic process; argininosuccinate metabolic process; aspartate metabolic process; citrulline metabolic process; positive regulation of nitric oxide biosynthetic process; urea cycle Disease: Citrullinemia, Classic |
| 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 Code: | P00966 |
| NCBI GenInfo Identifier: | 20141195 |
| NCBI Gene ID: | 445 |
| NCBI Accession: | P00966.2 |
| UniProt Secondary Accession: | P00966,Q6LDL2, Q86UZ0, Q96GT4, |
| UniProt Related Accession: | P00966 |
| Molecular Weight: | 46,530 Da |
| NCBI Full Name: | Argininosuccinate synthase |
| NCBI Synonym Full Names: | argininosuccinate synthase 1 |
| NCBI Official Symbol: | ASS1�� |
| NCBI Official Synonym Symbols: | ASS; CTLN1�� |
| NCBI Protein Information: | argininosuccinate synthase |
| UniProt Protein Name: | Argininosuccinate synthase |
| UniProt Synonym Protein Names: | Citrulline--aspartate ligase |
| Protein Family: | Assembly factor |
| UniProt Gene Name: | ASS1�� |
| UniProt Entry Name: | ASSY_HUMAN |
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