Zinc Finger HIT-Type Containing 1 (ZNHIT1) is a protein encoded by the ZNHIT1 gene in humans. This protein is part of the zinc finger protein family, which is characterized by the presence of zinc finger domains that facilitate binding to DNA, RNA, or other proteins. The HIT (Histidine Triad) domain is a specific type of zinc finger domain that plays a crucial role in various cellular processes.
The ZNHIT1 gene is located on chromosome 7 and is responsible for encoding the ZNHIT1 protein. The protein itself contains a HIT domain, which is essential for its function. The HIT domain is known for its ability to bind to nucleic acids and other proteins, making it a versatile component in cellular mechanisms.
ZNHIT1 plays a significant role in chromatin remodeling, a process that alters the structure of chromatin to regulate gene expression. It promotes the incorporation of the histone variant H2AZ1 into the genome, which is crucial for regulating gene expression . This incorporation is mediated by the SRCAP complex, which ZNHIT1 helps to recruit to specific genomic sites.
Additionally, ZNHIT1 is involved in maintaining hematopoietic stem cell (HSC) quiescence by determining chromatin accessibility at distal enhancers of HSC quiescence genes such as PTEN, FSTL1, and KLF4 . This regulation ensures the sustained transcription of these genes and restricts PI3K-AKT signaling inhibition.
Mutations or dysregulation of the ZNHIT1 gene have been associated with certain diseases. For instance, ZNHIT1 has been linked to Spastic Paraplegia 27, an autosomal recessive disorder characterized by progressive weakness and spasticity of the lower limbs . Understanding the function and regulation of ZNHIT1 can provide insights into the mechanisms underlying such diseases and potentially lead to therapeutic interventions.
Recombinant ZNHIT1 is a form of the protein that is produced through recombinant DNA technology. This involves inserting the ZNHIT1 gene into an expression system, such as bacteria or yeast, to produce the protein in large quantities. Recombinant ZNHIT1 is used in various research applications to study its function and interactions with other molecules.
The recombinant protein is typically purified and supplied in a solution containing buffers and stabilizers to maintain its activity. For example, a common preparation of recombinant ZNHIT1 includes 20mM Tris-HCl buffer (pH 8.0), 10% glycerol, and 0.4M urea .