PCGF1

Description

The PCGF1 (polycomb group ring finger 1) is a protein-coding gene located on chromosome 2.

Polycomb group RING finger protein 1, PCGF1, also known as NSPC1 or RNF68 is a RING finger domain protein that in humans is encoded by the PCGF1 gene. PCGF1 is a component defining the non-canonical polycomb repressive complex 1.1 (ncPRC1) interacting with RING1A/B, RYBP, BCOR and KDM2B. PCGF1-BCOR assembles via the ubiquitin-like RAWUL domain of PCGF1 and is recruited on the chromatin at KDM2B sites. Within the PRC1-like complex, PCGF1 regulates RING1B ubiquitin ligase activity that catalyzes the ubiquitination of Lys119 on histone H2A, which then leads to recruitment of PRC2 and H3K27me3 to effectively initiate a polycomb domain and mediate gene repression.

PCGF1 is a component of the Polycomb group (PcG) multiprotein BCOR complex, which is essential for maintaining the repressed state of specific genes like BCL6 and CDKN1A. It acts as a transcriptional repressor, potentially targeted to DNA by BCL6, and its repression activity may be linked to the PKC signaling pathway. PCGF1 directly binds to the CDKN1A promoter, repressing its expression in a retinoic acid response element (RARE)-dependent manner. Furthermore, PCGF1 promotes cell cycle progression and proliferation, possibly contributing to tumor cell growth by downregulating CDKN1A. It is also a part of the PcG multiprotein PRC1-like complex, which is crucial for maintaining the repressed state of numerous genes, including Hox genes, during development. This PRC1 complex alters chromatin structure and modifies histones, specifically monoubiquitinating histone H2A Lys-119, leading to heritable changes in gene expression. Within the PRC1-like complex, PCGF1 regulates the activity of RNF2 ubiquitin ligase. Additionally, PCGF1 controls the expression of DPPA4 and NANOG in NT2 embryonic carcinoma cells.

PCGF1 is also known as 2010002K04Rik, NSPC1, RNF3A-2, RNF68.

Associated Diseases

WES Whole Exome Sequencing