Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 8
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-FTSJ1, 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.
FTSJ1 also known as O-sialoglycoprotein endopeptidase is an RNA-binding protein with a mass of approximately 550 amino acids. This protein acts as a methyltransferase that modifies ribosomal RNA specifically at the 2'-O-methylation sites. FTSJ1 primarily localizes in the nucleolus of cells where it participates in ribosome biogenesis. It shows expression in multiple tissues but higher levels are noted in the brain and testis indicating its role may be more central in these areas.
Biological function summary
FTSJ1 plays an important role in the maturation of ribosomal RNA by adding methyl groups which stabilize the rRNA structure and aid proper ribosome function. It is considered a component of the ribonucleoprotein complex. The protein contributes significantly to the accuracy of protein synthesis by maintaining ribosome integrity and function vital for cellular activities. FTSJ1 may interact with other nucleolar proteins to perform its roles in ribosomal RNA maturation efficiently.
Pathways
FTSJ1 integrates within the ribosome biogenesis pathway a critical process for cell growth and proliferation. It interacts with the ribosome construction pathway and influences protein synthesis regulation working alongside other ribosome-associated proteins such as RPL13A. This protein's functional efficiency ensures the effective translation of mRNAs to produce proteins important for cellular function and response.
Dysfunction of FTSJ1 associates with intellectual disability syndromes specifically nonsyndromic X-linked intellectual disability. Mutations in FTSJ1 result in impaired methylation of rRNA affecting ribosome function and leading to neurological deficits. Furthermore FTSJ1 interaction with proteins like NOP58 emphasizes its importance in maintaining normal cognitive functions and brain development.
