MECOM

Description

The MECOM (MDS1 and EVI1 complex locus) is a protein-coding gene located on chromosome 3.

MDS1 and EVI1 complex locus protein EVI1 (MECOM), also known as ecotropic virus integration site 1 protein homolog (EVI-1) or positive regulatory domain zinc finger protein 3 (PRDM3), is a protein that in humans is encoded by the MECOM gene. EVI1 was first identified as a common retroviral integration site in AKXD murine myeloid tumors. It has since been identified in a plethora of other organisms, and seems to play a relatively conserved developmental role in embryogenesis. EVI1 is a nuclear transcription factor involved in many signaling pathways for both coexpression and coactivation of cell cycle genes. The EVI1 gene is located in the human genome on chromosome 3 (3q26.2). The gene spans 60 kilobases and encodes 16 exons, 10 of which are protein-coding. The first in-frame ATG start codon is in exon 3. A large number of transcript variations exist, encoding different isoforms or chimeric proteins. Some of the most common ones are: EVI_1a, EVI_1b, EVI_1c, EVI_1d, and EVI_3L are all variants in the 5‘ untranslated region, and all except EVI_1a are specific to human cells. -Rp9 variant is quite common in human and mouse cells, lacks 9 amino acids in the repression domain.

[Isoform 1]: Acts as a transcriptional regulator, binding to DNA sequences in the promoter regions of target genes and influencing their expression either positively or negatively. Classified as an oncogene, it plays a role in developmental processes, cell proliferation, and differentiation. Additionally, it might be involved in apoptosis by regulating the JNK and TGF-beta signaling pathways. It‘s known to participate in hematopoiesis. {ECO:0000269|PubMed:10856240, ECO:0000269|PubMed:11568182, ECO:0000269|PubMed:15897867, ECO:0000269|PubMed:16462766, ECO:0000269|PubMed:19767769, ECO:0000269|PubMed:9665135}.

MECOM is also known as AML1-EVI-1, EVI1, KMT8E, MDS1, MDS1-EVI1, PRDM3, RUSAT2.

Associated Diseases

WES Whole Exome Sequencing