Aliases for CHD5 Gene
External Ids for CHD5 Gene
Previous GeneCards Identifiers for CHD5 Gene
This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]
GeneCards Summary for CHD5 Gene
CHD5 (Chromodomain Helicase DNA Binding Protein 5) is a Protein Coding gene. Diseases associated with CHD5 include Neuroblastoma and Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency. Among its related pathways are Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides. An important paralog of this gene is CHD3.
UniProtKB/Swiss-Prot Summary for CHD5 Gene
Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non-methylated 'Lys-4' of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys-27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor suppressor, it regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa.