SETD1B Gene Summary [Human]
SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | SETD1B |
| Official Name | SET domain containing 1B, histone lysine methyltransferase [Source:HGNC Symbol;Acc:HGNC:29187] |
| Ensembl ID | ENSG00000139718 |
| Bio databases IDs | |
| Aliases | SET domain containing 1B, histone lysine methyltransferase |
| Synonyms | AA516740, IDDSELD, KMT2G, mKIAA1076, Set1B, SET domain containing 1B, SET domain containing 1B, histone lysine methyltransferase |
| 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 SETD1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA recognition motif (RRM) superfamily
- histone methyltransferase
- histone lysine N-methyltransferase activity (H3-K4 specific)
- COMPASS (Complex proteins associated with Set1p) component N
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- Cysteine-rich motif following a subset of SET domains
- RNA recognition motif
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- SET domain
- enzyme
- Win motif
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neurodevelopmental disorder
- epilepsy
- intellectual developmental disorder with seizures and language delay
- hereditary disorder
- major depression
- coronary artery disease
- single major depressive episode
- adult T-cell leukemia/lymphoma
- mature T-cell neoplasia
- T-cell non-Hodgkin disease
regulated by
- SETD1B
- Mchm2
role in cell
- expression in
- cell viability
- assembly in
- interaction in
- dipeptide repeat protein sensitivity
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
- Cytoplasm
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SETD1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- methylation
Cellular Component
Where in the cell the gene product is active
- Set1C/COMPASS complex
- nucleus
- cytoplasm
- nuclear speck
- histone methyltransferase complex
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- RNA binding
- protein binding