Human PNP Recombinant Protein (RPPB2130)
- SKU:
- RPPB2130
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P00491
- Research Area:
- Enzymes
Description
| Product Name: | Human PNP Recombinant Protein |
| Product Code: | RPPB2130 |
| Size: | 20µg |
| Species: | Human |
| Target: | PNP |
| Synonyms: | Purine nucleoside phosphorylase, Inosine phosphorylase, NP, PUNP, PRO1837, FLJ94043, FLJ97288, FLJ97312, MGC117396, MGC125915, MGC125916, PNP. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The PNP solution (1mg/ml) contains 20mM Tris-HCl buffer (pH8.0), 0.1M NaCl, 2mM DTT and 10% 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 MENGYTYEDY KNTAEWLLSH TKHRPQVAII CGSGLGGLTD KLTQAQIFDY GEIPNFPRST VPGHAGRLVF GFLNGRACVM MQGRFHMYEG YPLWKVTFPV RVFHLLGVDT LVVTNAAGGL NPKFEVGDIM LIRDHINLPG FSGQNPLRGP NDERFGDRFP AMSDAYDRTM RQRALSTWKQ MGEQRELQEG TYVMVAGPSF ETVAECRVLQ KLGADAVGMS TVPEVIVARH CGLRVFGFSL ITNKVIMDYE SLEKANHEEV LAAGKQAAQK LEQFVSILMA SIPLPDKAS |
PNP is a member of the PNP/MTAP phosphorylase family of proteins. PNP catalyzes the reversible phosphorolysis of ribonucleosides and 2�-deoxyribonucleosides with specificity for guanine, hypoxanthine and their analogs. PNP deficiency is a rare autosomal recessive genetic disease linked to a severe defect in T-lymphocyte function and neurologic disorder in children, comprising four percent of combined immunodeficiency cases.
PNP Human Recombinant fused with a 20 amino acid His tag at N-terminus produced in E.Coli is a single, non-glycosylated, polypeptide chain containing 309 amino acids (1-289 a.a.) and having a molecular mass of 34.2kDa. The PNP is purified by proprietary chromatographic techniques.
| UniProt Protein Function: | NP: a metabolic enzyme with purine-nucleoside phosphorylase activity. Defects are the cause of nucleoside phosphorylase deficiency (NP deficiency), with severe T-cell immunodeficiency with neurologic disorder in children. |
| UniProt Protein Details: | Protein type:Cofactor and Vitamin Metabolism - nicotinate and nicotinamide; Transferase; EC 2.4.2.1; Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine Chromosomal Location of Human Ortholog: 14q13.1 Cellular Component: cytoplasm; cytosol; intracellular Molecular Function:drug binding; nucleoside binding; phosphate binding; purine binding; purine-nucleoside phosphorylase activity Biological Process: immune response; inosine catabolic process; nicotinamide riboside catabolic process; nucleobase, nucleoside, nucleotide and nucleic acid metabolic process; positive regulation of alpha-beta T cell differentiation; positive regulation of T cell proliferation; purine nucleotide catabolic process; purine salvage; response to drug Disease: Purine Nucleoside Phosphorylase Deficiency |
| NCBI Summary: | This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P00491 |
| NCBI GenInfo Identifier: | 108935929 |
| NCBI Gene ID: | 4860 |
| NCBI Accession: | P00491.2 |
| UniProt Secondary Accession: | P00491,Q15160, Q5PZ03, B2R8S5, D3DS00, |
| UniProt Related Accession: | P00491 |
| Molecular Weight: | 32,118 Da |
| NCBI Full Name: | Purine nucleoside phosphorylase |
| NCBI Synonym Full Names: | purine nucleoside phosphorylase |
| NCBI Official Symbol: | PNP�� |
| NCBI Official Synonym Symbols: | NP; PUNP; PRO1837�� |
| NCBI Protein Information: | purine nucleoside phosphorylase |
| UniProt Protein Name: | Purine nucleoside phosphorylase |
| UniProt Synonym Protein Names: | Inosine phosphorylase; Inosine-guanosine phosphorylase |
| Protein Family: | Polyribonucleotide nucleotidyltransferase |
| UniProt Gene Name: | PNP�� |
| UniProt Entry Name: | PNPH_HUMAN |
