CHD4
Domain
The KIKL motif recognizes and binds the NET domain of BRD3.
Function
ATP-dependent helicase that binds and distorts nucleosomal DNA (PubMed:28977666, PubMed:32543371). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:17626165, PubMed:28977666, PubMed:9804427). Localizes to acetylated damaged chromatin in a ZMYND8-dependent manner, to promote transcriptional repression and double-strand break repair by homologous recombination (PubMed:25593309). Involved in neurogenesis (By similarity).
Involvement in disease
Sifrim-Hitz-Weiss syndrome
SIHIWES
An autosomal dominant syndrome characterized by intellectual disability, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SNF2/RAD54 helicase family.
Tissue Specificity
Widely expressed.
Cellular localization
- Nucleus
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Associates with centrosomes in interphase (By similarity). Localizes to sites of DNA damage in a manner dependent on ZMYND8 and ZNF687 (PubMed:27732854, PubMed:28977666).
Alternative names
Chromodomain-helicase-DNA-binding protein 4, CHD-4, ATP-dependent helicase CHD4, Mi-2 autoantigen 218 kDa protein, Mi2-beta, CHD4