MECOM
MECOM is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene.
Full Name
MDS1 and EVI1 complex locus
Function
Isoform 1:
Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis.
Isoform 7:
Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation. Likely to be one of the primary histone methyltransferases along with PRDM16 that direct cytoplasmic H3K9me1 methylation.
Biological Process
Apoptotic process Source: UniProtKB-KW
Cell differentiation Source: UniProtKB-KW
Hematopoietic stem cell proliferation Source: UniProtKB
Heterochromatin organization Source: UniProtKB
Negative regulation of JNK cascade Source: UniProtKB
Negative regulation of programmed cell death Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Regulation of cell cycle Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Cellular Location
Nucleus
Nucleus speckle
Cytoplasm
Involvement in disease
A chromosomal aberration involving EVI1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with RUNX1/AML1.
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2):
An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm, and congenital thrombocytopenia that progresses to pancytopenia.
A chromosomal aberration involving MDS1 is found in a form of acute myeloid leukemia (AML). Translocation t(3;21) with AML1.
PTM
Phosphorylated.
May be acetylated by CREBBP and KAT2B.