Ankyrin 1: Proteins and Enzymes

Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actincytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and themaintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various targetproteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed ofthree structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highlyconserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subjectto variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has alsobeen found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of allpatients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving riseto different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting fromusage of an alternate promoter have also been identified. (provided by RefSeq)