FEATURES

DESCRIPTION

Also known as ANK3_RAT, Ank3. 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. In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (By similarity). May be a constituent of a NFASC/NRCAM/ankyrin G complex. Interacts with RHBG. Directly interacts with DMD and betaDAG1; this interaction does not interfere with DMD-binding and is required for DMD and betaDAG1 retention at costameres. Interacts (via N-terminal ANK repeats) with SCHIP1 isoform 7 (via C-terminus); this interaction is required for the localization at axon initial segments (AISs) and nodes of Ranvier (NRs) (By similarity). Interacts with PLEC and FLNC (PubMed:21223964). Isoform 7 interacts with PLEC and FLNC through its muscle-specific C-terminal sequence. Interacts with KCNA1; this inhibits channel activity (By similarity). Interacts (via ANK repeats) with IQCJ-SCHIP1; required for IQCJ-SCHIP1 localization at axon initial segments (AIS) and nodes of Ranvier (By similarity). Interacts with SCHIP1 (By similarity). Interacts with SCN5A (By similarity).

EXTERNAL LINKS

Ank3

Mutations

Mutation(s) distribution

Mutations table