Enzymes Recombinant Proteins
Human NEU1 Recombinant Protein (RPPB2021)
- SKU:
- RPPB2021
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- Q99519
- Research Area:
- Enzymes
Description
| Product Name: | Human NEU1 Recombinant Protein |
| Product Code: | RPPB2021 |
| Size: | 20µg |
| Species: | Human |
| Target: | NEU1 |
| Synonyms: | Sialidase 1 (lysosomal sialidase), Acetylneuraminyl hydrolase, N-acetyl-alpha-neuraminidase 1, exo-alpha-sialidase, Lysosomal sialidase, G9 sialidase, NEU, NANH, SIAL1, EC 3.2.1.18. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The NEU1 solution (0.25mg/1ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.15M NaCl, 1mM 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 85% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSHMENDFG LVQPLVTMEQ LLWVSGRQIG SVDTFRIPLI TATPRGTLLA FAEARKMSSS DEGAKFIALR RSMDQGSTWS PTAFIVNDGD VPDGLNLGAV VSDVETGVVF LFYSLCAHKA GCQVASTMLV WSKDDGVSWS TPRNLSLDIG TEVFAPGPGS GIQKQREPRK GRLIVCGHGT LERDGVFCLL SDDHGASWRY GSGVSGIPYG QPKQENDFNP DECQPYELPD GSVVINARNQ NNYHCHCRIV LRSYDACDTL RPRDVTFDPE LVDPVVAAGA VVTSSGIVFF SNPAHPEFRV NLTLRWSFSN GTSWRKETVQ LWPGPSGYSS LATLEGSMDG EEQAPQLYVL YEKGRNHYTE SISVAKISVY GTL |
Sialidase 1 (NEU1) is a lysosomal enzyme which cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, the NEU1 enzyme is part of a heterotrimeric complex in cooperation with beta-galactosidase and cathepsin A. NEU1 gene mutations may lead to sialidosis, a lysosomal storage disease that can be the type 1 (cherry red -myoclonus syndrome or normosomatic type), which is late-onset, or the type 2 (the dysmorphic type), which takes place at an earlier age with increased acuteness.
NEU1 Human Recombinant produced in E. coli is a single polypeptide chain containing 393 amino acids (48-415) and having a molecular mass of 42.9 kDa.NEU1 is fused to a 25 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | NEU1: Catalyzes the removal of sialic acid (N-acetylneuramic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. Defects in NEU1 are the cause of sialidosis (SIALIDOSIS). It is a lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells. Belongs to the glycosyl hydrolase 33 family. |
| UniProt Protein Details: | Protein type:Hydrolase; EC 3.2.1.18; Lipid Metabolism - sphingolipid; Motility/polarity/chemotaxis; Glycan Metabolism - other glycan degradation Chromosomal Location of Human Ortholog: 6p21.3 Cellular Component: lysosomal lumen; intracellular membrane-bound organelle; lysosome; lysosomal membrane; cytoplasmic membrane-bound vesicle; plasma membrane; cell junction Molecular Function:exo-alpha-sialidase activity Biological Process: oligosaccharide catabolic process; cellular protein metabolic process; sphingolipid metabolic process; dolichol-linked oligosaccharide biosynthetic process; glycosphingolipid metabolic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification; lipid catabolic process Disease: Neuraminidase Deficiency |
| NCBI Summary: | The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q99519 |
| NCBI GenInfo Identifier: | 17368612 |
| NCBI Gene ID: | 4758 |
| NCBI Accession: | Q99519.1 |
| UniProt Related Accession: | Q99519 |
| Molecular Weight: | 415 |
| NCBI Full Name: | Sialidase-1 |
| NCBI Synonym Full Names: | sialidase 1 (lysosomal sialidase) |
| NCBI Official Symbol: | NEU1�� |
| NCBI Official Synonym Symbols: | NEU; NANH; SIAL1�� |
| NCBI Protein Information: | sialidase-1; G9 sialidase; exo-alpha-sialidase; lysosomal sialidase; acetylneuraminyl hydrolase; N-acetyl-alpha-neuraminidase 1 |
| UniProt Protein Name: | Sialidase-1 |
| UniProt Synonym Protein Names: | Acetylneuraminyl hydrolase; G9 sialidase; Lysosomal sialidase; N-acetyl-alpha-neuraminidase 1 |
| Protein Family: | Sialidase |
| UniProt Gene Name: | NEU1�� |
| UniProt Entry Name: | NEUR1_HUMAN |
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