SIL1 cdna clone
SIL1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
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 Description
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; Secreted
Chromosomal Location of Human Ortholog: 5q31
Cellular Component: endoplasmic reticulum; extracellular space
Molecular Function: protein binding
Disease: Marinesco-sjogren Syndrome
Research Articles on SIL1
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Product Notes
The SIL1 sil1 (Catalog #AAA1276199) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggctcccc agagcctgcc ttcatctagg atggctcctc tgggcatgct gcttgggctg ctgatggccg cctgcttcac cttctgcctc agtcatcaga acctgaagga gtttgccctg accaacccag agaagagcag caccaaagaa acggagagaa aagaaaccaa agccgaggag gagctggatg ccgaagtcct ggaggtgttc cacccgacgc atgagtggca ggcccttcag ccagggcagg ctgtccctgc aggatcccac gtacggctga atcttcagac tggggaaaga gaggcaaaac tccaatatga ggacaagttc cgaaataatt tgaaaggcaa aaggctggat atcaacacca acacctacac atctcaggat ctcaagagtg cactggcaaa attcaaggag ggggcagaga tggagagttc aaaggaagac aaggcaaggc aggctgaggt aaagcggctc ttccgcccca ttgaggaact gaagaaagac tttgatgagc tgaatgttgt cattgagact gacatgcaga tcatggtacg gctgatcaac aagttcaata gttccagctc cagtttggaa gagaagattg ctgcgctctt tgatcttgaa tattatgtcc atcagatgga caatgcgcag gacctgcttt cctttggtgg tcttcaagtg gtgatcaatg ggctgaacag cacagagccc ctcgtgaagg agtatgctgc gtttgtgctg ggcgctgcct tttccagcaa ccccaaggtc caggtggagg ccatcgaagg gggagccctg cagaagctgc tggtcatcct ggccacggag cagccgctca ctgcaaagaa gaaggtcctg tttgcactgt gctccctgct gcgccacttc ccctatgccc agcggcagtt cctgaagctc ggggggctgc aggtcctgag gaccctggtg caggagaagg gcacggaggt gctcgccgtg cgcgtggtca cactgctcta cgacctggtc acggagaaga tgttcgccga ggaggaggct gagctgaccc aggagatgtc cccagagaag ctgcagcagt atcgccaggt acacctcctg ccaggcctgt gggaacaggg ctggtgcgag atcacggccc acctcctggc gctgcccgag catgatgccc gtgagaaggt gctgcagaca ctgggcgtcc tcctgaccac ctgccgggac cgctaccgtc aggaccccca gctcggcagg acactggcca gcctgcaggc tgagtaccag gtgctggcca gcctggagct gcaggatggt gaggacgagg gctacttcca ggagctgctg ggctctgtca acagcttgct gaaggagctg agatga. It is sometimes possible for the material contained within the vial of "SIL1, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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