ANK3 Blocking Peptide

Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

ANK3: In skeletal muscle, required for costamere localization of DMD and betaDAG1. Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Genetic variations in ANK3 are associated with autism spectrum disorders susceptibility. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Adaptor/scaffold; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 10q21

Cellular Component: Golgi apparatus; tight junction; costamere; cell surface; sarcoplasmic reticulum; endoplasmic reticulum; basolateral plasma membrane; lysosome; paranode region of axon; T-tubule; dendrite; Z disc; postsynaptic membrane; plasma membrane; basal plasma membrane; neuromuscular junction; sarcolemma; lateral plasma membrane

Molecular Function: protein binding, bridging; protein binding; spectrin binding; structural constituent of cytoskeleton; cadherin binding; cytoskeletal protein binding

Biological Process: axon guidance; regulation of potassium ion transport; cytoskeletal anchoring; generation of action potential; signal transduction; positive regulation of homotypic cell-cell adhesion; establishment of protein localization; cytokinesis after mitosis; plasma membrane organization and biogenesis; axonogenesis; Golgi to plasma membrane protein transport; positive regulation of membrane potential; neuromuscular junction development

Disease: Mental Retardation, Autosomal Recessive 37