PAGR1
Description
The PAGR1 (PAXIP1 associated glutamate rich protein 1) is a protein-coding gene located on chromosome 16.
PAAGR1 is proposed to play a role in epigenetic transcriptional activation through its association with the MLL2/MLL3 complex. However, it is also suggested to function independently of the MLL2/MLL3 complex, particularly in the context of DNA damage and immunoglobulin class switching. PAGR1 has been shown to be recruited by PAXIP1 to sites of DNA damage, where the PAGR1:PAXIP1 complex is thought to be essential for cell survival in response to DNA damage, independently of the MLL2/MLL3 complex. While its involvement in DNA damage response has been questioned, PAGR1 is known to be involved in the regulation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus during immunoglobulin class switching in activated B-cells, again independently of the MLL2/MLL3 complex. PAGR1 also participates in both estrogen receptor-regulated gene transcription and estrogen-stimulated G1/S cell-cycle transition. It functions as a transcriptional cofactor for nuclear hormone receptors and inhibits the induction properties of several steroid receptors like NR3C1, AR, and PPARG. The mechanism of this inhibition seems to be gene-dependent.
PAGR1 is also known as C16orf53, GAS, PA1.
Associated Diseases
- multiple sclerosis
- cancer
- migraine disorder
- nail-patella syndrome
- schizophrenia
- congenital adrenal hyperplasia
- cleft palate-lateral synechia syndrome
