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AB263408

Human USB1 (C16orf57) knockout HeLa cell lysate

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USB1 KO cell lysate available now. KO validated. Free of charge wild type control included. Knockout achieved by using CRISPR/Cas9, 1 bp insertion in exon1.
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Sanger Sequencing - Human USB1 (C16orf57) knockout HeLa cell lysate (AB263408)
  • Sanger seq

Unknown

Sanger Sequencing - Human USB1 (C16orf57) knockout HeLa cell lysate (AB263408)

Homozygous : 1 bp insertion in exon1

Key facts

Cell type

HeLa

Species or organism

Human

Tissue

Cervix

Knockout validation

Sanger Sequencing

Mutation description

Knockout achieved by using CRISPR/Cas9, 1 bp insertion in exon1.

Disease

Adenocarcinoma

Product details

Knockout cell lysate achieved by CRISPR/Cas9.

REACH authorisation
Abcam has not and does not intend to apply for the REACH Authorisation of customers' uses of products that contain European Authorisation list (Annex XIV) substances.
It is the responsibility of our customers to check the necessity of application of REACH Authorisation, and any other relevant authorisations, for their intended uses.

Lysate preparation: Our lysates are made using RIPA buffer to which we add a protease inhibitor cocktail and phosphatase inhibitor cocktail (ratio: 300:100:10). This means that the protein of interest is denatured. If you require a native form of the protein please use the live cell version. Please refer to our lysis protocol for further details on how our lysates are prepared.

User storage instructions: Lyophilizate may be stored at 4°C. After reconstitution, store at -20°C for short-term storage or -80°C for long-term storage.

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.

What's included?

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Properties and storage information

Gene name
USB1
Gene editing type
Knockout
Gene editing method
CRISPR technology
Knockout validation
Sanger Sequencing
Shipped at conditions
Ambient - Can Ship with Ice
Appropriate short-term storage conditions
-20°C
Appropriate long-term storage conditions
-20°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.

Quality control

STR analysis

CSF1PO, D13S317, D7S820, D5S818, TH01, D16S539, TPOX

Cell culture

Biosafety level

EU: 2 US: 2

Adherent/suspension

Adherent

Gender

Female

Product protocols

Product promise

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