RNF20
Description
The RNF20 (ring finger protein 20) is a protein-coding gene located on chromosome 9.
RNF20 gene encodes an enzyme known as E3 ubiquitin-protein ligase BRE1A. This protein shares similarity with BRE1 from S. cerevisiae, a ubiquitin ligase involved in ubiquitinating histone H2B and methylating histone H3.
RNF20 is part of the RNF20/40 E3 ubiquitin ligase complex, which attaches a single ubiquitin molecule to lysine 120 of histone H2B (H2BK120ub1). This modification acts as a signal for epigenetic activation of transcription and is necessary for the methylation of lysine 4 and lysine 79 of histone H3 (H3K4me and H3K79me, respectively). RNF20/40 plays a crucial role in the histone code and gene regulation. It forms a H2B ubiquitin ligase complex in collaboration with the E2 enzyme UBE2A or UBE2B, although the interaction with UBE2E1/UBCH is debated. RNF20 is essential for activating transcription of Hox genes. It is recruited to the MDM2 promoter, potentially through interaction with p53/TP53, and functions as a transcriptional coactivator. In cancer cells, RNF20 facilitates the polyubiquitination of isoform 2 of PA2G4, leading to its degradation by the proteasome.
RNF20 is also known as BRE1, BRE1A, hBRE1.
Associated Diseases
- schizophrenia 15
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Phelan-McDermid syndrome
- cancer
- hereditary mixed polyposis syndrome
- Potocki-Lupski syndrome
- autoimmune lymphoproliferative syndrome type 2B
- immunodeficiency 14b, autosomal recessive
- activated PI3K-delta syndrome
