CREB3L1

CREB3L1
Identifiers
Aliases	CREB3L1, OASIS, cAMP responsive element binding protein 3-like 1, cAMP responsive element binding protein 3 like 1, OI16
External IDs	OMIM: 616215; MGI: 1347062; HomoloGene: 8058; GeneCards: CREB3L1; OMA:CREB3L1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11p11.2 Start 46,277,662 bp End 46,321,409 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 E1 Start 91,812,673 bp End 91,854,847 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in nasal epithelium stromal cell of endometrium mucosa of ileum myocardium of left ventricle body of pancreas mucosa of paranasal sinus pylorus right ventricle apex of heart rectum Top expressed in calvaria parotid gland molar submandibular gland membranous bone left colon choroid plexus of fourth ventricle yolk sac long bone Dermatocranium More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding protein binding cAMP response element binding SMAD binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific Cellular component integral component of membrane endoplasmic reticulum membrane endoplasmic reticulum nucleus membrane Biological process negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway regulation of transcription, DNA-templated extracellular matrix constituent secretion positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress transcription, DNA-templated multicellular organism development endoplasmic reticulum unfolded protein response response to unfolded protein osteoblast differentiation positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II positive regulation of collagen biosynthetic process negative regulation of transcription by RNA polymerase II negative regulation of gene expression negative regulation of fibroblast growth factor receptor signaling pathway negative regulation of transcription, DNA-templated negative regulation of sprouting angiogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 90993 26427 Ensembl ENSG00000157613 ENSMUSG00000027230 UniProt Q96BA8 Q9Z125 RefSeq (mRNA) NM_052854 NM_011957 RefSeq (protein) NP_443086 NP_036087 Location (UCSC) Chr 11: 46.28 – 46.32 Mb Chr 2: 91.81 – 91.85 Mb PubMed search
Wikidata
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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.

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.

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.