Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Knockout validation:Sanger Sequencing,Western blot,
Mutation description:Knockout achieved by using CRISPR/Cas9, 16 bp deletion in exon2 and 1 bp insertion in exon2.
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
patent pages
Properties and Storage Information:
Gene name-SMARCB1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Western blot, 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.
SNF5/SMARCB1 also known as INI1 or BAF47 is a member of the SWI/SNF chromatin remodeling complex. It acts in modifying chromatin structure to regulate gene expression. SNF5/SMARCB1 possesses a mass of approximately 47 kDa. The protein expresses ubiquitously in various tissues with notable presence in the nucleus. Through its mechanical activity in chromatin remodeling SNF5/SMARCB1 facilitates transcriptional regulation and chromosomal stability.
Biological function summary
SNF5/SMARCB1 acts as an integral component of the SWI/SNF complex. This complex functions in altering nucleosome positioning on DNA impacting gene expression linked to cell cycle regulation differentiation and DNA repair. By working within this complex SNF5/SMARCB1 helps in the activation or repression of specific gene sets based on cellular requirements displaying an essential role in maintaining normal cellular function. The interplay of SNF5/SMARCB1 with other chromatin-modifying enzymes extends its influence across various genetic pathways.
Pathways
The involvement of SNF5/SMARCB1 in the cell cycle and transcription regulation pathways is acknowledged. It participates intimately in the p53 signaling pathway which is critical for cell cycle checkpoints and apoptotic responses. SNF5/SMARCB1 engages with other proteins such as p53 and RB1 coordinating to maintain genomic integrity and proper transcriptional programming. These pathways spotlight the protein's influence in important cell fate decisions.
SNF5/SMARCB1 mutations or deletions associate closely with malignant rhabdoid tumors an aggressive pediatric cancer and schwannomatosis a disorder involving benign nerve sheath tumors. The loss of SNF5/SMARCB1 disrupts the SWI/SNF complex's function triggering unregulated cell proliferation and cancer progression. Within these disorders the SWI/SNF complex itself which contains other subunits like BRG1 and BRM is also impacted highlighting SMARCB1's critical role in tumor suppression.
