USB1 KO cell line available to order. Free of charge wild type control provided. Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 1.
C16orf57, CP057_HUMAN, Chromosome 16 open reading frame 57, FLJ13154, UPF0406 protein C16orf57
USB1 KO cell line available to order. Free of charge wild type control provided. Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 1.
Upon arrival, the vial should be stored in liquid nitrogen vapor phase and not at -80°C. Storage at -80°C may result in loss of viability.
1. Thaw the vial in 37°C water bath for approximately 1-2 minutes.
2. Transfer the cell suspension (0.8 mL) to a 15 mL/50 mL conical sterile polypropylene centrifuge tube containing 8.4 mL pre-warmed culture medium, wash vial with an additional 0.8 mL culture medium (total volume 10 mL) to collect remaining cells, and centrifuge at 201 x g (rcf) for 5 minutes at room temperature. 10 mL represents minimum recommended dilution. 20 mL represents maximum recommended dilution.
3. Resuspend the cell pellet in 5 mL pre-warmed culture medium and count using a haemocytometer or alternative cell counting method seed all remaining cells into a T25.
4. Incubate the culture at 37°C incubator with 5% CO2. Check the culture one day after revival and continue to check until 80% confluent. Media change can be given if needed.
5. Once confluent passage into an appropriate flask at a density of 2x104 cells/cm2. Seeding density is given as a guide only and should be scaled to align with individual lab schedules. Cultures should be monitored daily.
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our limited use license and patent pages.
The C16orf57 protein also referred to as USB1 functions as a phosphodiesterase that removes the 2'3'-cyclic phosphate ends of spliceosomal U6 snRNA transforming them into 3'-phosphate ends. The molecular mass of C16orf57 is approximately 39 kDa. It is expressed in a variety of tissues including the liver heart and pancreas. This protein is important in RNA processing and ensures the stability and proper function of U6 snRNA an essential component of the spliceosome involved in pre-mRNA splicing.
C16orf57 plays an important role in RNA metabolism. It is part of the RNA processing machinery and assists in maintaining the RNA molecules necessary for the extrusion of introns and ligation of exons. By contributing to RNA stability C16orf57 ensures efficient gene expression and protein synthesis. C16orf57 works closely with other components of the spliceosomal complex facilitating the removal of non-coding regions and proper coding sequence assembly.
C16orf57 significantly affects the splicing and processing of RNA contributing to the splicing machinery pathway. This pathway is essential for accurate gene expression and involves interaction with proteins like SART3 further impacting the assembly and function of spliceosomal small nuclear ribonucleoproteins (snRNPs). Additionally the C16orf57 pathway connects tightly with RNA processing pathways which are necessary for converting pre-mRNA into mature mRNA.
Malfunction or deficiency of C16orf57 has been connected with poikiloderma with neutropenia (PN) a genetic condition that affects skin pigmentation and immune function. C16orf57 mutations also associate with dyskeratosis congenita a disorder affecting various tissues due to defective telomere maintenance. In these conditions C16orf57 impacts TBX1 and DKC1 proteins which participate in overlapping pathways involving telomeres and cellular proliferation further implicating C16orf57 in pathophysiological processes.
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Homozygous: 1 bp insertion in exon 1.
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