Human SIL1 Recombinant Protein (RPPB4685)
- SKU:
- RPPB4685
- Product type:
- Recombinant Protein
- Size:
- 10ug
- Species:
- Human
- Target:
- SIL1
- Synonyms:
- SIL1 homolog endoplasmic reticulum chaperone (S cerevisiae)
- nucleotide exchange factor SIL1
- Marinesco-Sjogren syndrome
- BiP-associated protein
- Source:
- Escherichia Coli
- Uniprot:
- Q9H173
Frequently bought together:
Description
| Product Name: | Human SIL1 Recombinant Protein |
| Product Code: | RPPB4685 |
| Size: | 10µg |
| Species: | Human |
| Target: | SIL1 |
| Synonyms: | SIL1 homolog endoplasmic reticulum chaperone (S. cerevisiae), nucleotide exchange factor SIL1, Marinesco-Sjogren syndrome, BiP-associated protein, ULG5, MSS, BAP. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The SIL1 solution (0.5mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 100mM Nacl 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% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MHQNLKEFAL TNPEKSSTKE TERKETKAEE ELDAEVLEVF HPTHEWQALQ PGQAVPAGSH VRLNLQTGER EAKLQYEDKF RNNLKGKRLD INTNTYTSQD LKSALAKFKE GAEMESSKED KARQAEVKRL FRPIEELKKD FDELNVVIET DMQIMVRLIN KFNSSSSSLE EKIAALFDLE YYVHQMDNAQ DLLSFGGLQV VINGLNSTEP LVKEYAAFVL GAAFSSNPKV QVEAIEGGAL QKLLVILATE QPLTAKKKVL FALCSLLRHF PYAQRQFLKL GGLQVLRTLV QEKGTEVLAV RVVTLLYDLV TEKMFAEEEA ELTQEMSPEK LQQYRQVHLL PGLWEQGWCE ITAHLLALPE HDAREKVLQT LGVLLTTCRD RYRQDPQLGR TLASLQAEYQ VLASLELQDG EDEGYFQELL GSVNSLLKEL RLEHHHHHH |
SIL1 is localized to endoplasmic reticulum (ER). SIL1 is an N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. SIL1 acts as a nucleotide exchange factor for another unfolded protein response protein. Mutations in SIL1 are linked to Marinesco-Sjogren syndrome.
SIL1 Human Recombinant produced in E. coli is a single polypeptide chain containing 439 amino acids (32-461) and having a molecular mass of 50.0 kDa.SIL1 is fused to a 8 amino acid His-tag at C-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | SIL1: Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5. Defects in SIL1 are a cause of Marinesco-Sjoegren syndrome (MSS). MSS is an autosomal recessive multisystem disorder which is characterized by cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule cell loss and myopathy featuring marked muscle replacement with fat and connective tissue. Other cardinal features include bilateral cataracts, hypergonadotrophic hypogonadism and mild to severe mental retardation. Skeletal abnormalities, short stature, dysarthria, strabismus and nystagmus are also frequent findings. Mutational inactivation of this protein may result in ER stress- induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins which are critical for the organs targeted in MSS. Belongs to the SIL1 family.Protein type: Secreted, signal peptide; SecretedChromosomal Location of Human Ortholog: 5q31Cellular Component: endoplasmic reticulum; extracellular spaceMolecular Function: protein bindingDisease: Marinesco-sjogren Syndrome |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q9H173 |
| NCBI GenInfo Identifier: | 74733533 |
| NCBI Gene ID: | 64374 |
| NCBI Accession: | Q9H173.1 |
| UniProt Secondary Accession: | Q9H173,Q8N2L3, D3DQC2 |
| UniProt Related Accession: | Q9H173 |
| Molecular Weight: | 52,085 Da |
| NCBI Full Name: | Nucleotide exchange factor SIL1 |
| NCBI Synonym Full Names: | SIL1 nucleotide exchange factor |
| NCBI Official Symbol: | SIL1 |
| NCBI Official Synonym Symbols: | BAP; MSS; ULG5 |
| NCBI Protein Information: | nucleotide exchange factor SIL1 |
| UniProt Protein Name: | Nucleotide exchange factor SIL1 |
| UniProt Synonym Protein Names: | BiP-associated protein; BAP |
| Protein Family: | Silaffin |
| UniProt Gene Name: | SIL1 |
| UniProt Entry Name: | SIL1_HUMAN |
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