CREB3L1
Description
The CREB3L1 (cAMP responsive element binding protein 3 like 1) is a protein-coding gene located on chromosome 11.
CREB3L1 (also known as OASIS) is a responsive element binding protein found in the endoplasmic reticulum (ER) membrane. Upon ER stress, it is cleaved, and the released transcription factor domain translocates to the nucleus where it activates target genes by binding to box-B elements. Pathogenic variants in CREB3L1 have been linked to Osteogenesis Imperfecta.
CREB3L1 (also known as OASIS) is a transcription factor precursor embedded in the endoplasmic reticulum membrane. Its N-terminal DNA-binding and transcription activation domains face the cytosol. Upon ER stress or DNA damage, CREB3L1 is transported to the Golgi apparatus where it is cleaved by proteases S1P/MBTPS1 and S2P/MBTPS2. The cleaved N-terminal domain translocates to the nucleus, activating transcription of target genes that inhibit cell cycle progression.
CREB3L1 is also known as C16DELp11.2, DEL16p11.2, OASIS, OI16.
