SH3 Domain GRB2 Like Protein 1 (SH3GL1)

As all characterized MLL fusion genes previously identified had been shown to retain the derivative chromosome 11, the 3-prime RACE (rapid amplification of cDNA ends) method was chosen to isolate the fusion partner of MLL in the patient's leukemic cells. The deduced EEN protein of 368 amino acids contains a central alpha-helical region and a C-terminal Src homology 3 (SH3) domain most similar to the C-terminal SH3 domain found in the GRB2 family of genes.

EEN was expressed in a variety of tissue types and encoded a protein of approximately 46 kD. The EEN protein is the human homolog of a member of a recently described murine SH3 domain-containing protein family. It is also highly related to a putative gene identified in C. elegans.