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SPTA1 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. Defects in SPTA1 are the cause of elliptocytosis type 2 (EL2). EL2 is 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. Defects in SPTA1 are a cause of hereditary pyropoikilocytosis (HPP). HPP is an autosomal recessive disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. Defects in SPTA1 are the cause of spherocytosis type 3 (SPH3); also known as hereditary spherocytosis type 3 (HS3). 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. Belongs to the spectrin family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 1q23.1
Cellular Component: actin cytoskeleton; cytosol
Molecular Function: actin filament binding; protein binding; Ras guanyl-nucleotide exchange factor activity; structural constituent of cytoskeleton
Biological Process: actin filament organization; axon guidance; ER to Golgi vesicle-mediated transport; MAPKKK cascade
Disease: Elliptocytosis 2; Pyropoikilocytosis, Hereditary; Spherocytosis, Type 3
Reference #:  P02549 (UniProtKB)
Alt. Names/Synonyms: alpha-I spectrin; EL2; Erythroid alpha-spectrin; HPP; HS3; Spectrin alpha chain, erythrocyte; spectrin, alpha, erythrocytic 1; spectrin, alpha, erythrocytic 1 (elliptocytosis 2); SPH3; SPTA; SPTA1
Gene Symbols: SPTA1
Molecular weight: 280,014 Da
Basal Isoelectric point: 4.95  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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