PCGF6
Description
The PCGF6 (polycomb group ring finger 6) is a protein-coding gene located on chromosome 10.
PCGF6 is a human gene that encodes a protein containing a RING finger motif, characteristic of polycomb group (PcG) proteins. These proteins are known to form complexes and function as transcription repressors. PCGF6 interacts with other PcG proteins, suppressing gene expression. Its activity is regulated by cell cycle-dependent phosphorylation, and different isoforms are generated by alternative splicing.
PCGF6 acts as a transcriptional repressor. It can regulate the levels of histone H3K4Me3 by activating KDM5D histone demethylase. As a component of the Polycomb group (PcG) multiprotein PRC1-like complex, it plays a crucial role in maintaining the transcriptionally repressive state of many genes, including Hox genes, during development. The PcG PRC1 complex achieves this by remodeling chromatin and modifying histones, ultimately mediating monoubiquitination of histone H2A 'Lys-119', which leads to heritable changes in chromatin's expression. Within the PRC1-like complex, PCGF6 regulates RNF2 ubiquitin ligase activity.
PCGF6 is also known as MBLR, RNF134.
Associated Diseases
- autosomal dominant spondylocostal dysostosis
- autosomal recessive spondylocostal dysostosis
- schneckenbecken dysplasia
- metatropic dysplasia
- spondylometaphyseal dysplasia, A4 type
- systemic lupus erythematosus
- Dyggve-Melchior-Clausen disease
- cancer
