MECOM Gene Summary [Human]
The protein encoded by this gene 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. [provided by RefSeq, Mar 2011]
Details
| Type | Protein Coding |
| Official Symbol | MECOM |
| Official Name | MDS1 and EVI1 complex locus [Source:HGNC Symbol;Acc:HGNC:3498] |
| Ensembl ID | ENSG00000085276 |
| Bio databases IDs | |
| Aliases | MDS1 and EVI1 complex locus, PR domain 3 |
| Synonyms | AML1-EVI-1, D630039M04Rik, EVI1, Evi-1 locus zinc finger, Jbo, KMT8E, LOC103691544, Mds, MDS1, MDS1 and EVI1 complex locus, MDS1-EVI1, PRDM3, RUSAT2, Znfpr1b1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MECOM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- CtBP binding domain
- transcription regulator
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- DNA binding domain
- nucleic acid binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- histone lysine N-methyltransferase activity (H3-K9 specific)
- zinc finger
- transcription repression domain
- histone methyltransferase
- double-stranded DNA binding
- Zinc-finger double domain
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- protein homodimerization
- zinc finger domain
- PR domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the MECOM gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- prostate cancer
- irritable bowel syndrome
- neoplastic cell transformation
- major depression
- cardiovascular disorder
- gastroesophageal reflux
- epithelial cancer
- myeloproliferative disorder
- lung squamous cell carcinoma
role in cell
- number
- apoptosis
- quantity
- proliferation
- differentiation
- methylation in
- cell viability
- expression in
- growth
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- cytosol
- nucleoplasm
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MECOM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heterochromatin organization
- negative regulation of programmed cell death
- negative regulation of JNK cascade
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- chromatin remodeling
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- apoptotic process
- hemopoietic stem cell proliferation
- regulation of cell cycle
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear speck
- histone deacetylase complex
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- histone methyltransferase activity (H3-K9 specific)
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription