CHD3
This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Full Name
Chromodomain Helicase DNA Binding Protein 3
Function
Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones (PubMed:9804427, PubMed:30397230).
Involved in transcriptional repressiobn as part of the NuRD complex (PubMed:27068747).
Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity (PubMed:17626165).
Biological Process
ATP-dependent chromatin remodeling Source: UniProtKB
Centrosome cycle Source: UniProtKB
Chromatin assembly or disassembly Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Regulation of signal transduction by p53 class mediator Source: Reactome
Regulation of transcription, DNA-templated Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: ProtInc
Spindle organization Source: UniProtKB
Cellular Location
PML body; Nucleus; Centrosome. Associates with centrosomes in interphase and mitosis.
Involvement in disease
Snijders Blok-Campeau syndrome (SNIBCPS): An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity.
PTM
Sumoylation at Lys-1971 results in dissociation from chromatin and suppression of transcriptional repression.
Loading...
Datasheet