SPTA1 Gene Summary [Human]
This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]
Details
| Type | Protein Coding |
| Official Symbol | SPTA1 |
| Official Name | spectrin alpha, erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11272] |
| Ensembl ID | ENSG00000163554 |
| Bio databases IDs | |
| Aliases | spectrin alpha, erythrocytic 1, elliptocytosis 2 |
| Synonyms | alpha1 SPECTRIN, EL2, Erythroid Alpha-Spectrin, Erythroid α-Spectrin, ha, HPP, HS3, ihj, nmf4, Spectrin alpha 1, spectrin alpha, erythrocytic 1, spectrin, alpha, erythrocytic 1, Spectrin α 1, spectrin α, erythrocytic 1, spectrin, α, erythrocytic 1, sph, SPH3, Spna-1, SPTA |
| 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 SPTA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SPEC
- actin filament binding
- EF-Hand
- Spectrin repeats
- chromosome segregation protein SMC, common bacterial type
- spectrin homology domain
- structural constituent of cytoskeleton
- Spectrin repeat
- EFh
- protein binding
- Ca2+ insensitive EF hand
- Src Homology 3 domain superfamily
Pathways
Biological processes and signaling networks where the SPTA1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- organismal death
- elliptocytosis type 2
- hemolytic anemia
- hereditary pyropoikilocytosis
- congenital hemolytic anemia
- autosomal recessive spherocytosis type 3
- hereditary spherocytosis
- clear-cell ovarian carcinoma
- clear cell ovarian cancer
- hemolysis
role in cell
- quantity
- proliferation
- organization
- hematopoiesis
- volume
- homeostasis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent-insoluble fractions
- cortical cytoskeleton
- cytoskeleton
- cellular membrane
- actin cytoskeleton
- Nucleus
- vesicles
- Golgi Apparatus
- cytosol
- cytoplasmic face of plasma membrane
- cuticular plate
- multivesicular bodies
- axons
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPTA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell shape
- plasma membrane organization
- porphyrin-containing compound biosynthetic process
- actin filament capping
- hemopoiesis
- lymphocyte homeostasis
- actin filament organization
- positive regulation of T cell proliferation
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- actin cytoskeleton
- cytosol
- cell junction
- spectrin
- cuticular plate
- cell projection
- plasma membrane
- cortical actin cytoskeleton
- axon
- internal side of plasma membrane
- spectrin-associated cytoskeleton
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein binding
- calcium ion binding
- structural constituent of cytoskeleton