SPTA1
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.
Full Name
Spectrin Alpha, Erythrocytic 1
Function
Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.
Biological Process
Biological Process actin cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process actin filament cappingIEA:UniProtKB-KW
Biological Process actin filament organizationManual Assertion Based On ExperimentTAS:ProtInc
Biological Process hemopoiesisIEA:Ensembl
Biological Process lymphocyte homeostasisIEA:Ensembl
Biological Process plasma membrane organizationIEA:Ensembl
Biological Process porphyrin-containing compound biosynthetic processIEA:Ensembl
Biological Process positive regulation of protein bindingIEA:Ensembl
Biological Process positive regulation of T cell proliferationIEA:Ensembl
Biological Process regulation of cell shapeIEA:UniProtKB-KW
Biological Process actin filament cappingIEA:UniProtKB-KW
Biological Process actin filament organizationManual Assertion Based On ExperimentTAS:ProtInc
Biological Process hemopoiesisIEA:Ensembl
Biological Process lymphocyte homeostasisIEA:Ensembl
Biological Process plasma membrane organizationIEA:Ensembl
Biological Process porphyrin-containing compound biosynthetic processIEA:Ensembl
Biological Process positive regulation of protein bindingIEA:Ensembl
Biological Process positive regulation of T cell proliferationIEA:Ensembl
Biological Process regulation of cell shapeIEA:UniProtKB-KW
Cellular Location
Cytoplasm, cytoskeleton
Cytoplasm, cell cortex
Cytoplasm, cell cortex
Involvement in disease
Elliptocytosis 2 (EL2):
A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
Hereditary pyropoikilocytosis (HPP):
Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
Spherocytosis 3 (SPH3):
Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.
A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
Hereditary pyropoikilocytosis (HPP):
Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
Spherocytosis 3 (SPH3):
Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.
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Anti-SPTA1 antibodies
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Target: SPTA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: Spe 1/2
Application*: E, WB
Target: SPTA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: SB-SP1
Application*: IF, WB
Target: SPTA1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: RBC2/3D5
Application*: P
Target: SPTA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXS-0997
Application*: WB
Target: SPTA1
Host: Mouse
Antibody Isotype: IgM
Specificity: Human
Clone: B12G3
Application*: E, C
Target: SPTA1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Mouse, Rat
Clone: CBXS-5036
Application*: IF, C, P
Target: SPTA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CBXS-3767
Application*: E, IC, IF, C, WB
Target: SPTA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: AF10
Application*: WB, IP, IC
Target: SPTA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: 17C7
Application*: E, IC, IF, C, WB
Target: SPTA1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 9.5.21
Application*: WB
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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
- IGImmunochromatography
- 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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