CREB3L1 cAMP responsive element binding protein 3 like 1
Gene ID: 90993, updated on 17-Jun-2024Gene type: protein coding
Also known as: OI16; OASIS; DEL16p11.2; C16DELp11.2
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- Go to complete Gene record for CREB3L1
- Go to Variation Viewer for CREB3L1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Osteogenesis imperfecta type 16 | See labs |
Genomic context
- Location:
- 11p11.2
- Sequence:
- Chromosome: 11; NC_000011.10 (46277662..46321409)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CREB3L1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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