Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate. In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration. Present in plasma membrane of neurons as well as glial cells throughout the brain. Expressed in fetal brain and in temporal cortex of adult brain. Also expressed in the inner segments of rod photoreceptors in retina. 4 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Adaptor/scaffold; Motility/polarity/chemotaxis
Cellular Component: A band; basolateral plasma membrane; costamere; cytoplasm; cytoskeleton; integral component of plasma membrane; intercalated disc; M band; membrane raft; neuron projection; perinuclear region of cytoplasm; plasma membrane; postsynaptic density; sarcolemma; T-tubule; Z disc
Molecular Function: ATPase binding; enzyme binding; ion channel binding; phosphorylation-dependent protein binding; potassium channel regulator activity; protein binding; protein binding, bridging; protein kinase binding; spectrin binding; structural constituent of cytoskeleton
Biological Process: atrial cardiac muscle cell action potential; atrial cardiac muscle cell to AV node cell communication; atrial septum development; cardiac muscle contraction; cellular calcium ion homeostasis; cellular protein localization; cytoskeleton organization; nervous system development; paranodal junction assembly; positive regulation of calcium ion transmembrane transporter activity; positive regulation of calcium ion transport; positive regulation of cation channel activity; positive regulation of gene expression; positive regulation of potassium ion transmembrane transporter activity; positive regulation of potassium ion transport; protein localization; protein localization to cell surface; protein localization to endoplasmic reticulum; protein localization to M-band; protein localization to organelle; protein localization to plasma membrane; protein localization to T-tubule; protein stabilization; regulation of atrial cardiac muscle cell action potential; regulation of AV node cell action potential; regulation of calcium ion transmembrane transporter activity; regulation of calcium ion transport; regulation of cardiac muscle cell contraction; regulation of cardiac muscle cell membrane potential; regulation of cardiac muscle contraction; regulation of cardiac muscle contraction by calcium ion signaling; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; regulation of cation channel activity; regulation of heart rate; regulation of heart rate by cardiac conduction; regulation of release of sequestered calcium ion into cytosol; regulation of SA node cell action potential; regulation of ventricular cardiac muscle cell membrane repolarization; response to methylmercury; SA node cell action potential; SA node cell to atrial cardiac muscle cell communication; signal transduction; T-tubule organization; ventricular cardiac muscle cell action potential