CHD1
Description
The CHD1 (chromodomain helicase DNA binding protein 1) is a protein-coding gene located on chromosome 5.
CHD1, also known as Chromodomain-Helicase DNA-binding protein 1, is a chromatin remodeling protein encoded by the CHD1 gene. This protein is conserved across many eukaryotic organisms, including yeast and humans. CHD1 is named for its three main protein domains: two tandem chromodomains, an ATPase catalytic domain, and a DNA-binding domain. CHD1 binds to nucleosomes and induces changes in nucleosome positioning through ATP hydrolysis and DNA translocation across the histone proteins. Its catalytic domain, conserved across nucleosome remodelers, is a two-lobed structure. The DNA-binding domain, which binds DNA in a sequence non-specific manner, helps regulate spacing. CHD1 belongs to a large family of CHD nucleosome remodelers, with humans and mice having ten CHD proteins homologous to CHD1, each with distinct functions. CHD1 contains two tandem N-terminal chromodomains, a SNF2-related domain, a helicase C domain, CDH1/2 SANT-Helical linker, and a disordered C-terminal region. The structure of Chd1 bound to the nucleosome has been solved.
CHD1 is an ATP-dependent chromatin-remodeling factor that acts as the substrate recognition component of the SAGA histone acetylation (HAT) complex. It regulates transcription by RNA polymerase II and is essential for efficient transcription by RNA polymerase I, particularly in the termination step. CHD1 negatively regulates DNA replication and is involved in transcription-related chromatin remodeling. It also plays a role in maintaining specific chromatin configurations across the genome and is associated with histone deacetylase (HDAC) activity. CHD1 bridges SNF2, the FACT complex, the PAF complex, and the U2 snRNP complex to H3K4me3, modulating pre-mRNA splicing efficiency through physical bridging of spliceosomal components to H3K4me3. CHD1 is crucial for maintaining open chromatin and pluripotency in embryonic stem cells. It is a component of the SAGA complex and interacts with BCLAF1, NCoR, SRP20, and SAFB. CHD1 specifically interacts with methylated H3K4me2 and H3K4me3 and also interacts with the FACT complex, the PAF complex, and the U2 snRNP. It directly interacts with PAF1, SFA3A1, SFA3A2, SFA3A3, SNF2, and SSRP1.
CHD1 is also known as CHD-1, PILBOS.
Associated Diseases
- Pilarowski-Bjornsson syndrome
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
