NP_003117.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
279,674 Da
NCBI Official Full Name
spectrin alpha chain, erythrocytic 1
NCBI Official Synonym Full Names
spectrin alpha, erythrocytic 1
NCBI Protein Information
spectrin alpha chain, erythrocytic 1
UniProt Protein Name
Spectrin alpha chain, erythrocytic 1
UniProt Synonym Protein Names
Erythroid alpha-spectrin
UniProt Synonym Gene Names
UniProt Entry Name
SPTA1_HUMAN
NCBI Summary for SPTA1
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 a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008]
UniProt Comments for SPTA1
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.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 1q21
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
Research Articles on SPTA1
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Pathways associated with SPTA1 elisa kit
Diseases associated with SPTA1 elisa kit
Organs/Tissues associated with SPTA1 elisa kit
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