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MECOM

Domain

Both zinc finger regions are required for the transcriptional activation of PBX1.

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.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

A chromosomal aberration involving MDS1 is found in a form of acute myeloid leukemia (AML). Translocation t(3;21) with AML1.

Post-translational modifications

Phosphorylated.

May be acetylated by CREBBP and KAT2B.

Cellular localization

Alternative names

EVI1, MDS1, PRDM3, MECOM, Histone-lysine N-methyltransferase MECOM, Ecotropic virus integration site 1 protein homolog, MDS1 and EVI1 complex locus protein, Myelodysplasia syndrome 1 protein, Myelodysplasia syndrome-associated protein 1, EVI-1

swissprot:Q03112 omim:165215 swissprot:Q13465 entrezGene:2122