CHD1 gene

chromodomain helicase DNA binding protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • PILAROWSKI-BJORNSSON SYNDROME

From UniProt:

Pilarowski-Bjornsson syndrome (PILBOS): An autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures. [MIM:617682]

Cytogenetic Location: 5q15-q21.1, which is the long (q) arm of chromosome 5 between positions 15 and 21.1

Molecular Location: base pairs 98,855,204 to 98,929,772 on chromosome 5 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 5q15-q21.1, which is the long (q) arm of chromosome 5 between positions 15 and 21.1
  • PILBOS