MGP Database

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MGP002967

UniProt Annotations

Entry Information
Gene Namespectrin, beta, erythrocytic
Protein EntrySPTB1_HUMAN
UniProt IDP11277
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P11277-1; Sequence=Displayed; Name=2; Synonyms=Muscle-specific; IsoId=P11277-2; Sequence=VSP_000719; Name=3; IsoId=P11277-3; Sequence=VSP_007242; Note=Due to exon skipping.;
DiseaseElliptocytosis 3 (EL3) [MIM:182870]: 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. {ECO:0000269|PubMed:1975598, ECO:0000269|PubMed:7883966, ECO:0000269|PubMed:8018926, ECO:0000269|PubMed:8226774}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseSpherocytosis 2 (SPH2) [MIM:182870]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance is autosomal dominant. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionSpectrin 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.
InteractionO95295:SNAPIN; NbExp=3; IntAct=EBI-514908, EBI-296723; P02549:SPTA1; NbExp=4; IntAct=EBI-514908, EBI-375617;
MiscellaneousThis complex is anchored to the cytoplasmic face of the plasma membrane via another protein, ankyrin, which binds to beta-spectrin and mediates the binding of the whole complex to a transmembrane protein band 3. The interaction of erythrocyte spectrin with other proteins through specific binding domains lead to the formation of an extensive subplasmalemmal meshwork which is thought to be responsible for the maintenance of the biconcave shape of human erythrocytes, for the regulation of plasma membrane components and for the maintenance of the lipid asymmetry of the plasma membrane.
PtmThe first phosphorylation event occurs on Ser-2114, followed by Ser-2125, Ser-2123, Ser-2128, Ser-2117, and Thr-2110. {ECO:0000269|PubMed:15065869}.
SimilarityBelongs to the spectrin family. {ECO:0000305}.
SimilarityContains 17 spectrin repeats. {ECO:0000305}.
SimilarityContains 2 CH (calponin-homology) domains. {ECO:0000255|PROSITE-ProRule:PRU00044}.
Subcellular LocationCytoplasm, cytoskeleton. Cytoplasm, cell cortex.
SubunitComposed of nonhomologous chains, alpha and beta, which aggregate to form dimers, tetramers, and higher polymers.
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