SESTD1 Gene Summary [Human]
Enables phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Involved in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel. Located in intermediate filament cytoskeleton. Colocalizes with calcium channel complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SESTD1 |
| Official Name | SEC14 and spectrin domain containing 1 [Source:HGNC Symbol;Acc:HGNC:18379] |
| Ensembl ID | ENSG00000187231 |
| Bio databases IDs | |
| Aliases | SEC14 and spectrin domain containing 1 |
| Synonyms | 1500031J16RIK, A930010O20, DKFZp434O0515, LOC228071, RGD1562244, SEC14 and spectrin domain containing 1, SEC14 and spectrin domains 1, SOLO, Solo/Trio8 |
| 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 SESTD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SPEC1 domain
- Domain in homologues of a S
- SPEC
- phospholipid binding
- binding protein
- Divergent CRAL/TRIO domain
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding
- phosphatidylinositol binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- refractive error
- late-onset Alzheimer disease
- neural tube defect
- idiopathic scoliosis
- spina bifida
- bipolar disorder
- hydronephrosis
- infection by HIV-1
regulated by
role in cell
- phosphorylation 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.
- Extracellular Space
- intermediate filament cytoskeleton
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SESTD1 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- calcium channel complex
- intermediate filament cytoskeleton
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-4,5-bisphosphate binding
- phosphatidylinositol-4-phosphate binding
- phosphatidylserine binding
- protein binding
- phosphatidylinositol-5-phosphate binding
- phosphatidylinositol-3,5-bisphosphate binding
- phosphatidic acid binding
- phosphatidylcholine binding
- phosphatidylinositol-3-phosphate binding
- phosphatidylinositol-3,4-bisphosphate binding
- 1-phosphatidylinositol binding