CHTOP
Description
The CHTOP (chromatin target of PRMT1) is a protein-coding gene located on chromosome 1.
CHTOP is a protein that plays a role in gene regulation, mRNA export, and tumorigenesis. It is involved in the activation of estrogen receptor target genes and may contribute to the silencing of fetal globin genes. CHTOP interacts with the 5FMC complex and ZNF148, promoting the desumoylation of ZNF148 and subsequent transactivation of its target genes. It is also essential for the tumorigenicity of glioblastoma cells. CHTOP binds to 5-hydroxymethylcytosine (5hmC) and forms a complex with PRMT1, PRMT5, MEP50, and ERH. This complex is recruited to specific chromosomal sites where it methylates H4R3 and activates genes involved in glioblastoma development.
CHTOP plays a critical role in activating estrogen receptor target genes when a ligand is present. It may also contribute to silencing fetal globin genes. CHTOP recruits the 5FMC complex to ZNF148, leading to ZNF148 desumoylation and subsequent activation of ZNF148 target genes. Additionally, CHTOP is involved in the tumorigenicity of glioblastoma cells. It binds to 5-hydroxymethylcytosine (5hmC) and interacts with the methylosome complex containing PRMT1, PRMT5, MEP50, and ERH. This CHTOP-methylosome complex, associated with 5hmC, targets specific sites on chromosomes, where it methylates H4R3 and activates the transcription of genes involved in glioblastoma development.
CHTOP is also known as C10orf77, C1orf77, FL-SRAG, FOP, SRAG, SRAG-3, SRAG-5, pp7704.
Associated Diseases
- chondrocalcinosis 2
- 8q24.3 microdeletion syndrome
- 22q11.2 deletion syndrome
- pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- Kabuki syndrome
- Peters plus syndrome
- alveolar capillary dysplasia with misalignment of pulmonary veins
- Williams syndrome
- Ehlers-Danlos syndrome, classic-like, 2
- autosomal recessive spondylocostal dysostosis
- chromosome 18q deletion syndrome
- visceral heterotaxy
- femoral-facial syndrome
- CHARGE syndrome
- Fryns syndrome
- FG syndrome 1
- mosaic trisomy 16
