SETBP1 Gene Summary [Human]
This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | SETBP1 |
| Official Name | SET binding protein 1 [Source:HGNC Symbol;Acc:HGNC:15573] |
| Ensembl ID | ENSG00000152217 |
| Bio databases IDs | |
| Aliases | SET binding protein 1 |
| Synonyms | C130092E12, LOC284262, mKIAA0437, MRD29, SEB, SET binding protein 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 SETBP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- SET binding domain
- 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
- cancer
- endometrial cancer
- lymphomagenesis
- hematologic cancer
- lymphoid cancer
- hematological neoplasia
- lymphatic neoplasia
- insomnia
- major depression
- renal clear cell adenocarcinoma
role in cell
- apoptosis
- phosphorylation in
- accumulation in
- expression in
- proliferation
- cell death
- differentiation
- immortalization
- acetylation in
- damage 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
- cytosol
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SETBP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- regulation of transcription, DNA-dependent
Cellular Component
Where in the cell the gene product is active
- nuclear body
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- DNA binding
- protein binding