Aliases for CHD1 Gene
External Ids for CHD1 Gene
Previous GeneCards Identifiers for CHD1 Gene
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
GeneCards Summary for CHD1 Gene
CHD1 (Chromodomain Helicase DNA Binding Protein 1) is a Protein Coding gene. Diseases associated with CHD1 include Pilarowski-Bjornsson Syndrome and Charge Syndrome. Among its related pathways are Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include methylated histone binding and ATP-dependent DNA helicase activity. An important paralog of this gene is CHD2.
UniProtKB/Swiss-Prot Summary for CHD1 Gene
ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity (By similarity). Required for the bridging of SNF2, the FACT complex, the PAF complex as well as the U2 snRNP complex to H3K4me3. Functions to modulate the efficiency of pre-mRNA splicing in part through physical bridging of spliceosomal components to H3K4me3 (PubMed:18042460, PubMed:28866611). Required for maintaining open chromatin and pluripotency in embryonic stem cells (By similarity).