Abcam, ab265114, Human USB1 (C16orf57) knockout HeLa cell line

Size: 2 x 1000000Cells / vial / 1000000Cells / vial
USB1 KO cell line available to order. KO validated by. Free of charge wild type control available. Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 1. To order both knockout and wild-type control cells: select 2 x 1000000Cells/vial. To order only knockout cells: select 1000000Cells/vial.
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 1,
Disease:Adenocarcinoma

Product details:
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
patent pages

Properties and Storage Information:
Gene name-USB1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
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.
Biological function summary
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.
Pathways
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.