CREB3L1

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]

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)[1] Band 11p11.2 Start 46,277,662 bp[1] End 46,321,409 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 E1 Start 91,812,673 bp[2] End 91,854,847 bp[2]
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 [3] [4]
Wikidata
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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]