Sptan1 Gene Summary [Mouse]
Enables spectrin binding activity. Predicted to be involved in actin cytoskeleton organization. Located in several cellular components, including cuticular plate; fascia adherens; and lateral plasma membrane. Is active in paranodal junction. Is expressed in gut; nervous system; sensory organ; and spleen. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 11 and developmental and epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Sptan1 |
| Official Name | spectrin alpha, non-erythrocytic 1 [Source:MGI Symbol;Acc:MGI:98386] |
| Ensembl ID | ENSMUSG00000057738 |
| Bio databases IDs | |
| Aliases | spectrin alpha, non-erythrocytic 1 |
| Synonyms | 2610027H02Rik, A2a, Alpha fodrin, (alpha)II-SPECTRIN, AlphaII spectrin, Alpha-spectorin, Alpha spectrin, alpha SPECTRIN 2, DEE5, DEVEP, EIEE5, HMN11, HMND11, IPF, NEAS, Spectrin alpha 2, spectrin alpha, non-erythrocytic 1, spectrin, alpha, non-erythrocytic 1, Spectrin α 2, spectrin α, non-erythrocytic 1, spectrin, α, non-erythrocytic 1, SPG91, SPNA2, SPTA2, α fodrin, (α)II-SPECTRIN, α-spectorin, α spectrin, α SPECTRIN 2 |
| Species | Mouse, Mus musculus |
| 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 mouse Sptan1 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
- EF-Hand
- EF-hand, calcium binding motif
- EF-hand domain pair
- alpha helix
- spectrin binding
- EFh
- protein binding
- Ca2+ insensitive EF hand
- Src Homology 3 domain superfamily
- triple helical domain
- chromosome segregation protein SMC, common bacterial type
- Spectrin repeats
- EFh_SPARC_EC
- EF-hand domain
- binding protein
- structural constituent of cytoskeleton
- EF hand
- actin binding
- Spectrin repeat
Pathways
Biological processes and signaling networks where the Sptan1 gene in mouse 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
- psoriasis
- early infantile epileptic encephalopathy type 5
- Ohtahara syndrome
- heart failure
- autosomal dominant distal hereditary motor neuronopathy type 11
- hereditary disorder
- neurodevelopmental disorder
- ataxia
- SPTAN1-related developmental delay with epilepsy
- SPTAN1-related developmental delay with or without epilepsy
role in cell
- expression in
- proliferation
- quantity
- maturation
- number
- assembly
- blebbing
- disruption
- G1 phase
- hypertrophy
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
- myelin enriched fraction
- detergent resistant lipid raft fraction
- glutaminergic synapse
- microtubule cytoskeleton
- perimembrane region
- cortical cytoskeleton
- axon component
- intracellular membrane-bounded organelle
- secretory granule lumen
- cytoskeleton
- Cytoplasm
- Extracellular Space
- cell periphery
- postsynaptic region
- organelle lumens
- cellular membrane
- cell cortex
- Nucleus
- Mitochondria
- myofilaments
- cytosol
- lateral cell surfaces
- lateral plasma membrane
- nuclear scaffolds
- paranodal junctions
- axon initial segments
- pedicels
- cuticular plate
- m-bands
- intercalated disks
- Z line
- cell-cell adherens junctions
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Sptan1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- actin filament capping
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- microtubule cytoskeleton
- specific granule lumen
- extracellular region
- cell projection
- plasma membrane
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- membrane
- cytosol
- cell junction
- spectrin
- cortical actin cytoskeleton
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- calmodulin binding
- protein binding
- actin binding
- calcium ion binding
- cadherin binding
- structural constituent of cytoskeleton