Sptbn1 Gene Summary [Mouse]
Predicted to enable GTPase binding activity; actin filament binding activity; and ankyrin binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in central nervous system formation and protein localization to plasma membrane. Acts upstream of or within regulation of SMAD protein signal transduction. Located in several cellular components, including M band; axolemma; and cuticular plate. Is expressed in heart; liver; lung; nervous system; and spleen. Used to study Beckwith-Wiedemann syndrome. Orthologous to human SPTBN1 (spectrin beta, non-erythrocytic 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Sptbn1 |
| Official Name | spectrin beta, non-erythrocytic 1 [Source:MGI Symbol;Acc:MGI:98388] |
| Ensembl ID | ENSMUSG00000020315 |
| Bio databases IDs | |
| Aliases | spectrin beta, non-erythrocytic 1 |
| Synonyms | 9930031C03Rik, AL033301, beta-Fodrin, beta II SPECTRIN, betaSpII, DDISBA, ELF, elf1, ELF3, HEL102, mKIAA4049, SPECTRIN beta1, Spectrin Beta2, spectrin beta, non-erythrocytic 1, spectrin, beta, non-erythrocytic 1, spectrin β, non-erythrocytic 1, spectrin, β, non-erythrocytic 1, Spnb1, SPNB2, SPTB2, β-Fodrin, β II SPECTRIN |
| 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 Sptbn1 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
- Calponin homology domain
- enzyme binding
- protein binding
- Pleckstrin homology-like domain
- chromosome segregation protein SMC, common bacterial type
- Spectrin repeats
- triple helical domain
- actin-binding domain
- ankyrin binding domain
- binding protein
- two helical domain
- structural constituent of cytoskeleton
- ankyrin binding
- membrane association domain 1
- actin binding
- Spectrin repeat
- PH domain
- calponin homology (CH) domain superfamily
- cysteine-histidine rich domain
Pathways
Biological processes and signaling networks where the Sptbn1 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
- neoplasia
- inguinal hernia
- epithelial neoplasia
- benign neoplasia
- hereditary disorder
- epithelial thyroid cancer
- thyroid cancer
- epithelial cancer
- head and neck cancer
- endocrine cancer
phenotypes
- abnormal brain development
- abnormal craniofacial morphology
- abnormal digestive system morphology
- abnormal fetal cardiomyocyte morphology
- abnormal heart development
- abnormal heart ventricle morphology
- abnormal heart ventricle wall thickness
- abnormal liver morphology
- abnormal myocardial fiber morphology
- abnormal outer ear morphology
- abnormal vitelline vasculature morphology
- absent coronary vessels
- adrenal gland cyst
- alopecia
- decreased body weight
- decreased circulating HDL cholesterol level
- decreased circulating LDL cholesterol level
- decreased circulating alanine transaminase level
- decreased circulating cholesterol level
- decreased circulating serum albumin level
- decreased circulating total protein level
- decreased embryo size
- decreased fetal cardiomyocyte proliferation
- decreased hepatocyte proliferation
- decreased lactate dehydrogenase level
- decreased mitotic index
- edema
- enlarged heart
- enlarged kidney
- enlarged testis
- hemorrhage
- increased adenoma incidence
- increased adrenal cortical tumor incidence
- increased body size
- increased carcinoma incidence
- increased fetal cardiomyocyte apoptosis
- increased glioma incidence
- increased hepatocellular carcinoma incidence
- increased liver tumor incidence
- increased lung adenocarcinoma incidence
- increased lymphoma incidence
- increased ovary tumor incidence
- increased renal carcinoma incidence
- increased sarcoma incidence
- increased testis tumor incidence
- increased thyroid carcinoma incidence
- increased tongue size
- lethality throughout fetal growth and development complete penetrance
- liver hypoplasia
- myocardial trabeculae hypoplasia
- premature death
- small heart
- thin ventricle myocardium compact layer
- ventricular septal defect
- visceromegaly
role in cell
- expression in
- apoptosis
- proliferation
- quantity
- growth
- organization
- assembly
- outgrowth
- disorganization
- colony formation by
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
- detergent resistant lipid raft fraction
- glutaminergic synapse
- cortical cytoskeleton
- cytoskeleton
- Cytoplasm
- cell surface
- cell periphery
- intracellular space
- apical compartment
- somatodendritic region
- postsynaptic region
- cellular membrane
- cell cortex
- Nucleus
- actin bundles
- cell-cell contacts
- sarcomere
- demarcation membrane systems
- cytosol
- basolateral membrane
- sinusoidal membrane
- lateral plasma membrane
- nucleoli
- axonal membrane
- paranodes
- juxtaparanodes
- cuticular plate
- membrane rafts
- membrane processes
- perikaryon
- axons
- dendrites
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Sptbn1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- plasma membrane organization
- central nervous system development
- actin filament capping
- cytokinesis after mitosis
- membrane assembly
- Golgi to plasma membrane protein transport
- central nervous system formation
- regulation of SMAD protein import into nucleus
- actin cytoskeleton organization
- protein localization in plasma membrane
- positive regulation of interleukin-2 production
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- nucleolus
- cell projection
- plasma membrane
- extracellular vesicular exosome
- cytoplasm
- cell junction
- cytosol
- axolemma
- M band
- cuticular plate
- spectrin
- cortical actin cytoskeleton
- spectrin-associated cytoskeleton
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- calmodulin binding
- protein binding
- RNA binding
- actin binding
- ankyrin binding
- GTPase binding
- cadherin binding
- structural constituent of cytoskeleton
- phospholipid binding