RBBP5


Description

The RBBP5 (RB binding protein 5, histone lysine methyltransferase complex subunit) is a protein-coding gene located on chromosome 1.

Retinoblastoma-binding protein 5 is a protein that in humans is encoded by the RBBP5 gene. The protein is found in the nucleus of cells and belongs to a family of proteins that interact with retinoblastoma protein, a key regulator of cell growth. RBBP5 preferentially binds to the underphosphorylated form of retinoblastoma protein. RBBP5 has been shown to interact with several proteins, including ASCL2, MLL, MLL3, and NCOA6.

RBBP5 plays a key role in the differentiation potential of embryonic stem (ES) cells, particularly along the neural lineage, by regulating gene induction and histone H3 lysine 4 (H3K4) methylation at crucial developmental loci, including those affected by retinoic acid. RBBP5 does not impact ES cell self-renewal. It functions as a component or associated component of histone methyltransferase complexes, regulating transcription by recruiting these complexes to gene promoters. As part of the MLL1/MLL complex, RBBP5 participates in mono-, di-, and tri-methylation at H3K4, a process associated with epigenetic transcriptional activation. In conjunction with ASH2L and WDR5, it stimulates the histone methyltransferase activity of various enzymes, including KMT2A, KMT2B, KMT2C, KMT2D, SETD1A, and SETD1B.

RBBP5 is also known as RBQ3, SWD1.

Associated Diseases



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