CREB3L1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
CAMP responsive element binding protein 3 like 1, also known as OASIS, is a responsive element binding protein that in humans is encoded by the CREB3L1 gene.[5]
AliasesCREB3L1, OASIS, cAMP responsive element binding protein 3-like 1, cAMP responsive element binding protein 3 like 1, OI16
External IDsOMIM: 616215; MGI: 1347062; HomoloGene: 8058; GeneCards: CREB3L1; OMA:CREB3L1 - orthologs
Function
The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved, and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013].
Implications in Disease
Pathogenic variants in CREB3L1 have been linked to Osteogenesis Imperfecta.[6]