L3MBTL1 Gene Summary [Human]
This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | L3MBTL1 |
| Official Name | L3MBTL histone methyl-lysine binding protein 1 [Source:HGNC Symbol;Acc:HGNC:15905] |
| Ensembl ID | ENSG00000185513 |
| Bio databases IDs | |
| Aliases | L3MBTL histone methyl-lysine binding protein 1, lethal (3) malignant brain tumor l(3) |
| Synonyms | C630004G01, dJ138B7.3, H-L(3)MBT, L(3)MBT, L3MBTL, L3MBTL1 histone methyl-lysine binding protein, L3MBTL histone methyl-lysine binding protein 1, mKIAA0681, RGD1307316, ZC2HC3 |
| 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 L3MBTL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histone binding
- Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
- SAM (Sterile alpha motif )
- Zinc finger, C2HC type
- protein binding activity, bridging
- chromatin binding
- protein domain specific binding
- protein binding
- identical protein binding
- malignant brain tumor (MBT) repeat
- SPM domain
- Sterile alpha motif
- binding protein
- mbt repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- myeloproliferative neoplasm
- myeloproliferative disorder
role in cell
- expression in
- differentiation
- formation
- organization
- G2/M phase
- mitosis
- progression
- progression in
- breakage in
- DNA damage response in
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
- chromosome
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human L3MBTL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription, DNA-dependent
- regulation of mitosis
- hemopoiesis
- heterochromatin assembly
- regulation of megakaryocyte differentiation
- regulation of cell cycle
- chromatin organization
Cellular Component
Where in the cell the gene product is active
- condensed chromosome
- nucleus
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- identical protein binding
- SAM domain binding
- protein binding
- histone binding
- methylated histone residue binding
- nucleosome binding
- chromatin binding