FOXO1, FKHR, FOXO1A, Forkhead box protein O1, Forkhead box protein O1A, Forkhead in rhabdomyosarcoma
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined, however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008],disease:Chromosomal aberrations involving FOXO1 are a cause of rhabdomyosarcoma 2 (RMS2) [MIM:268220], also known as alveolar rhabdomyosarcoma. Translocation (2,13)(q35,q14) with PAX3, translocation t(1,13)(p36,q14) with PAX7. The resulting protein is a transcriptional activator.,function:Transcription factor.,PTM:Phosphorylated by AKT1, insulin-induced (By similarity). IGF1 rapidly induces phosphorylation of Ser-256, Thr-24, and Ser-319. Phosphorylation of Ser-256 decreases DNA-binding activity and promotes the phosphorylation of Thr-24, and Ser-319, permitting phosphorylation of Ser-322 and Ser-325, probably by CK1, leading to nuclear exclusion and loss of function. Phosphorylation of Ser-329 is independent of IGF1 and leads to reduced function. Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 fork-head DNA-binding domain.,subcellular location:Shuttles between cytoplasm and nucleus.,subunit:Interacts with LRPPRC.,tissue specificity:Ubiquitous.,
