L3MBTL3 Gene Summary [Human]
This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | L3MBTL3 |
| Official Name | L3MBTL histone methyl-lysine binding protein 3 [Source:HGNC Symbol;Acc:HGNC:23035] |
| Ensembl ID | ENSG00000198945 |
| Bio databases IDs | |
| Aliases | L3MBTL histone methyl-lysine binding protein 3 |
| Synonyms | AI481284, L3MBTL3 histone methyl-lysine binding protein, L3MBTL histone methyl-lysine binding protein 3, MBT-1 |
| 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 L3MBTL3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sterile alpha motif
- Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
- mbt repeat
- SAM (Sterile alpha motif )
- SAM domain (Sterile alpha motif)
- chromatin binding
- protein binding
- identical protein binding
- malignant brain tumor (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
- breast cancer
- epithelial cancer
- chronic obstructive pulmonary disease
- prostate cancer
- hypertension
- non-insulin-dependent diabetes mellitus
- myocardial infarction
- chronic kidney disease
- alcoholic liver disease
- multiple sclerosis
role in cell
- quantity
- accumulation in
- differentiation
- accumulation
- ubiquitination in
- maturation
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
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human L3MBTL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
- negative regulation of transcription, DNA-dependent
- chromatin organization
- granulocyte differentiation
- regulation of methylation-dependent chromatin silencing
- erythrocyte maturation
- macrophage differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- zinc ion binding
- protein binding
- histone binding
- chromatin binding