SPTBN1
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene.
Full Name
Spectrin Beta, Non-Erythrocytic 1
Function
Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Plays a critical role in central nervous system development and function.
Biological Process
Biological Process actin cytoskeleton organizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process actin filament cappingIEA:UniProtKB-KW
Biological Process central nervous system developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process central nervous system formationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process common-partner SMAD protein phosphorylationIEA:Ensembl
Biological Process Golgi to plasma membrane protein transportManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process membrane assemblyManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process mitotic cytokinesisManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process plasma membrane organizationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process positive regulation of interleukin-2 productionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of protein localization to plasma membraneManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein localization to plasma membraneManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of protein localization to plasma membraneManual Assertion Based On ExperimentIGI:UniProtKB
Biological Process regulation of SMAD protein signal transductionIEA:Ensembl
Biological Process actin filament cappingIEA:UniProtKB-KW
Biological Process central nervous system developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process central nervous system formationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process common-partner SMAD protein phosphorylationIEA:Ensembl
Biological Process Golgi to plasma membrane protein transportManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process membrane assemblyManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process mitotic cytokinesisManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process plasma membrane organizationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process positive regulation of interleukin-2 productionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of protein localization to plasma membraneManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein localization to plasma membraneManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of protein localization to plasma membraneManual Assertion Based On ExperimentIGI:UniProtKB
Biological Process regulation of SMAD protein signal transductionIEA:Ensembl
Cellular Location
Cytoplasm, cytoskeleton
Cytoplasm, myofibril, sarcomere, M line
Cytoplasm, cytosol
Cell membrane
Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes.
Isoform 2
Cell membrane
Cytoplasm, myofibril, sarcomere, M line
Cytoplasm, cytosol
Cell membrane
Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes.
Isoform 2
Cell membrane
Involvement in disease
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA):
An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss.
An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss.
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Anti-SPTBN1 antibodies
+ Filters

Target: SPTBN1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Mouse, Rat, Human
Clone: CBXS-1536
Application*: WB, P, IC
Target: SPTBN1
Host: Mouse
Specificity: Mouse, Rat, Human
Clone: CBXS-2227
Application*: WB, IP, IF, E
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot

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