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
End46,321,409 bp[1]
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CREB3L1
Identifiers
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_052854

NM_011957

RefSeq (protein)

NP_443086

NP_036087

Location (UCSC)Chr 11: 46.28 – 46.32 MbChr 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]

References

Further reading

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