CREB1
MIM.123810 2q32.3-q34
CREB1 code for the cAMP response element-binding protein 1.
Functions
Cyclic AMP (cAMP) second messenger pathways provide a chief means by which cellular growth, differentiation, and function can be influenced by extracellular signals.
Following hormonal stimulation of a neuroendocrine cell, for example, increased cAMP levels activate cAMP-dependent protein kinase A, which phosphorylates 1 or more DNA-binding proteins. These in turn stimulate transcription of an array of cAMP-responsive genes such as those for somatostatin (MIM.182450), alpha-gonadotropin (MIM.118850), proenkephalin (MIM.131330) and FOS (MIM.164810).
All cAMP-responsive gene promoters have in common an 8-base enhancer known as the cAMP-response element (CRE) containing a conserved core sequence, 5-prime-TGACG-3-prime, first described in the somatostatin gene.
Pathology
EWSR1/CREB1 fusion gene fusion in
- angiomatoid fibrous histiocytoma (#17724745#)
- clear cell sarcoma (#17000668#)
References
Antonescu CR, Dal Cin P, Nafa K, Teot LA, Surti U, Fletcher CD, Ladanyi M. EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer. 2007 Aug 20; PMID: #17724745#
Antonescu CR, Nafa K, Segal NH, Dal Cin P, Ladanyi M. EWS-CREB1: a recurrent variant fusion in clear cell sarcoma—association with gastrointestinal location and absence of melanocytic differentiation. Clin Cancer Res 2006; 12: 5356-5362. Medline #17000668#