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]
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]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000157613 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027230 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: CAMP responsive element binding protein 3 like 1".
- ^ Symoens, S; Malfait, F; D'hondt, S; Callewaert, B; Dheedene, A; Steyaert, W; Bächinger, HP; De Paepe, A; Kayserili, H; Coucke, PJ (30 September 2013). "Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans". Orphanet Journal of Rare Diseases. 8: 154. doi:10.1186/1750-1172-8-154. PMC 3850743. PMID 24079343.
Further reading
- Omori Y, Imai J, Suzuki Y, Watanabe S, Tanigami A, Sugano S (April 2002). "OASIS is a transcriptional activator of CREB/ATF family with a transmembrane domain". Biochemical and Biophysical Research Communications. 293 (1): 470–7. doi:10.1016/S0006-291X(02)00253-X. PMID 12054625.
- Guillou L, Benhattar J, Gengler C, Gallagher G, Ranchère-Vince D, Collin F, Terrier P, Terrier-Lacombe MJ, Leroux A, Marquès B, Aubain Somerhausen N, Keslair F, Pedeutour F, Coindre JM (September 2007). "Translocation-positive low-grade fibromyxoid sarcoma: clinicopathologic and molecular analysis of a series expanding the morphologic spectrum and suggesting potential relationship to sclerosing epithelioid fibrosarcoma: a study from the French Sarcoma Group". The American Journal of Surgical Pathology. 31 (9): 1387–402. doi:10.1097/PAS.0b013e3180321959. PMID 17721195. S2CID 25347819.
- Fox RM, Hanlon CD, Andrew DJ (November 2010). "The CrebA/Creb3-like transcription factors are major and direct regulators of secretory capacity". The Journal of Cell Biology. 191 (3): 479–92. doi:10.1083/jcb.201004062. PMC 3003312. PMID 21041443.
- Möller E, Hornick JL, Magnusson L, Veerla S, Domanski HA, Mertens F (May 2011). "FUS-CREB3L2/L1-positive sarcomas show a specific gene expression profile with upregulation of CD24 and FOXL1". Clinical Cancer Research. 17 (9): 2646–56. doi:10.1158/1078-0432.CCR-11-0145. PMID 21536545.
- Denard B, Seemann J, Chen Q, Gay A, Huang H, Chen Y, Ye J (July 2011). "The membrane-bound transcription factor CREB3L1 is activated in response to virus infection to inhibit proliferation of virus-infected cells". Cell Host & Microbe. 10 (1): 65–74. doi:10.1016/j.chom.2011.06.006. PMC 3139916. PMID 21767813.
- Denard B, Seemann J, Chen Q, Gay A, Huang H, Chen Y, Ye J (July 2011). "The membrane-bound transcription factor CREB3L1 is activated in response to virus infection to inhibit proliferation of virus-infected cells". Cell Host & Microbe. 10 (1): 65–74. doi:10.1016/j.chom.2011.06.006. PMC 3139916. PMID 21767813.
- Debelenko LV, McGregor LM, Shivakumar BR, Dorfman HD, Raimondi SC (December 2011). "A novel EWSR1-CREB3L1 fusion transcript in a case of small cell osteosarcoma". Genes, Chromosomes & Cancer. 50 (12): 1054–62. doi:10.1002/gcc.20923. PMID 21987447. S2CID 25108102.
- Kondo S, Hino SI, Saito A, Kanemoto S, Kawasaki N, Asada R, Izumi S, Iwamoto H, Oki M, Miyagi H, Kaneko M, Nomura Y, Urano F, Imaizumi K (December 2012). "Activation of OASIS family, ER stress transducers, is dependent on its stabilization". Cell Death and Differentiation. 19 (12): 1939–49. doi:10.1038/cdd.2012.77. PMC 3504707. PMID 22705851.
- Denard B, Lee C, Ye J (December 2012). "Doxorubicin blocks proliferation of cancer cells through proteolytic activation of CREB3L1". eLife. 1: e00090. doi:10.7554/eLife.00090. PMC 3524649. PMID 23256041.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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