ZBED1
Description
The ZBED1 (zinc finger BED-type containing 1) is a protein-coding gene located on chromosome X|Y.
ZBED1 (Zinc finger BED domain-containing protein 1) is a human gene located in the pseudoautosomal region 1 (PAR) of the X and Y chromosomes. It encodes a protein that functions as a transcription factor, binding to DNA elements in promoter regions of genes involved in cell proliferation, color remodeling, and protein metabolism. Initially, ZBED1 was mistakenly thought to be similar to Ac transposable elements, but this was later disproven. ZBED1 has multiple spliced transcript variants with different 5' untranslated regions. The structure of its zinc finger BED domain has been solved and deposited in the PDB database under entry 2ct5.
ZBED1 acts as an E3 SUMO ligase, attaching SUMO tags to the CHD3/Mi2-alpha protein. This modification causes CHD3/Mi2-alpha to detach from DNA, relieving its repressive effects on transcription. Consequently, RNA polymerase II is recruited to gene promoters, leading to increased transcription of genes like H1-5 and ribosomal proteins (RPS6, RPL10A, RPL12). This enhanced transcription ultimately drives cell proliferation. ZBED1 specifically binds to the 5'-TGTCG[CT]GA[CT]A-3' sequence found in the promoter regions of ribosomal protein genes.
ZBED1 is also known as ALTE, DREF, TRAMP, hDREF.
Associated Diseases
- cancer
- alpha thalassemia-X-linked intellectual disability syndrome
- laryngotracheoesophageal cleft
- X-linked syndromic intellectual disability
- Timothy syndrome
- Alzheimer disease
- adenoviridae infectious disease
- ulnar-mammary syndrome
- type 2 diabetes mellitus
- chronic tic disorder
