SBF1 Gene Summary [Human]
This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
Details
| Type | Protein Coding |
| Official Symbol | SBF1 |
| Official Name | SET binding factor 1 [Source:HGNC Symbol;Acc:HGNC:10542] |
| Ensembl ID | ENSG00000100241 |
| Bio databases IDs | |
| Aliases | SET binding factor 1, myotubularin related 5, DENN/MADD domain containing 7A |
| Synonyms | 2610510A08Rik, B230113C15Rik, CMT4B3, DENND7A, mKIAA3020, MTMR5, SET binding factor 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 SBF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein tyrosine/serine/threonine phosphatase
- Myotubularin protein
- Myotubularin-like phosphatase domain
- coiled-coil domain
- Pleckstrin homology-like domain
- PTP_DSP_cys
- pseudophosphatase
- DENN (AEX-3) domain
- guanyl-nucleotide exchange factor
- Stabilization of polarity axis
- dDENN domain
- phosphatase
- PH domain
- uDENN domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dementia
- azoospermia
- Charcot-Marie-Tooth disease type 4B3
- Charcot-Marie-Tooth disease
- hypothyroidism
- pervasive developmental disorder
- Charcot-Marie-Tooth disease type 4
role in cell
- mitochondrial respiration in
- differentiation
- growth
- development
- transformation
- survival
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- perinuclear region
- cellular membrane
- Nucleus
- cytosol
- endoplasmic reticulum membrane
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SBF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- spermatid development
- protein dephosphorylation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- perinuclear region of cytoplasm
- nuclear body
- cytoplasm
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- guanyl-nucleotide exchange factor activity
- phosphatase activity
- protein tyrosine/serine/threonine phosphatase activity