title: EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia.
abstract: The MLL gene, the closest human homologue to the Drosophila trithorax gene, undergoes chromosomal translocation with a large number of different partner genes in both acute lymphoid and acute myeloid leukemias. We have identified a new partner gene, EEN, fused to MLL in a case of acute myeloid leukemia. The gene is located on chromosome 19p13, where two other MLL partner genes, ENL and ELL/MEN have also been identified. The deduced protein of 368 aa 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/Sem-5/Drk family of genes. Sequence analysis of the fusion MLL/EEN transcript in our patient reveals that exon 6 of MLL is fused to the N-terminal end of EEN, a fusion that would create a chimeric protein that includes the major functional domain of EEN. EEN is expressed in a variety of tissue types and encodes a protein of approximately 46 kDa. The EEN protein is the human homologue of a member of a recently described murine SH3 domain-containing protein family. It is also highly related to a putative gene identified in Caenorhabditis elegans, and a number of similar sequences are present in the EST databases of several species.
authors.affiliation: Department of Pathology, University of Hong Kong. CWSO@hkucc.hku.hk
authors.forename: C W
authors.initials: CW
authors.lastname: So
authors.forename: C
authors.initials: C
authors.lastname: Caldas
authors.forename: M M
authors.initials: MM
authors.lastname: Liu
authors.forename: S J
authors.initials: SJ
authors.lastname: Chen
authors.forename: Q H
authors.initials: QH
authors.lastname: Huang
authors.forename: L J
authors.initials: LJ
authors.lastname: Gu
authors.forename: M H
authors.initials: MH
authors.lastname: Sham
authors.forename: L M
authors.initials: LM
authors.lastname: Wiedemann
authors.forename: L C
authors.initials: LC
authors.lastname: Chan
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D017173:Caenorhabditis elegans / Q000235:genetics; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins / Q000235:genetics*; D004330:Drosophila / Q000235:genetics; D005091:Exons; D005260:Female; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins; D007621:Karyotyping; D007945:Leukemia, Lymphoid / Q000235:genetics; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family; D051788:Myeloid-Lymphoid Leukemia Protein; D014176:Protein Biosynthesis; D017433:Protein Structure, Secondary; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D011519:Proto-Oncogenes; D011993:Recombinant Fusion Proteins / Q000096:biosynthesis; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors; D014158:Transcription, Genetic; D016335:Zinc Fingers; D018909:src Homology Domains
chemical_list: D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; C497422:KMT2A protein, human; D011506:Proteins; D011993:Recombinant Fusion Proteins; C105159:SH3GL1 protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase