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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. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption. Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin. Expressed in brain, neurons, muscles and other tissues. 5 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Adaptor/scaffold; Motility/polarity/chemotaxis |
| Chromosomal Location of human Ortholog: 10q21.2 |
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Cellular Component:
axon initial segment; basal plasma membrane; basolateral plasma membrane; bicellular tight junction; cell surface; costamere; cytosol; dendrite; endoplasmic reticulum; Golgi apparatus; intercalated disc; lateral plasma membrane; lysosome; neuromuscular junction; neuron projection; node of Ranvier; plasma membrane; postsynaptic membrane; sarcolemma; sarcoplasmic reticulum; spectrin-associated cytoskeleton; T-tubule; Z disc
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Molecular Function:
cadherin binding; cytoskeletal anchor activity; cytoskeletal protein binding; protein binding; protein-macromolecule adaptor activity; spectrin binding; structural constituent of cytoskeleton; transmembrane transporter binding
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Biological Process:
axonogenesis; cellular response to magnesium ion; cytoskeleton organization; establishment of protein localization; Golgi to plasma membrane protein transport; magnesium ion homeostasis; maintenance of protein location in plasma membrane; membrane assembly; mitotic cytokinesis; negative regulation of delayed rectifier potassium channel activity; neuromuscular junction development; neuronal action potential; plasma membrane organization; positive regulation of cation channel activity; positive regulation of cell communication by electrical coupling; positive regulation of gene expression; positive regulation of homotypic cell-cell adhesion; positive regulation of membrane depolarization during cardiac muscle cell action potential; positive regulation of membrane potential; positive regulation of protein targeting to membrane; positive regulation of sodium ion transmembrane transporter activity; positive regulation of sodium ion transport; protein localization to axon; protein localization to plasma membrane; regulation of potassium ion transport; signal transduction
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Disease: Mental Retardation, Autosomal Recessive 37
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Reference #:
Q12955
(UniProtKB)
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Alt. Names/Synonyms: ANK-3; ANK3; ankyrin 3; ankyrin 3, node of Ranvier (ankyrin G); ankyrin G119; Ankyrin-3; ankyrin-3, node of Ranvier; Ankyrin-G; FLJ45464; MRT37
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Gene Symbols: ANK3
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Molecular weight:
480,410 Da
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Basal Isoelectric point:
6.07
Predict pI for various phosphorylation states
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