| UniProt Protein Function: | 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: Motility/polarity/chemotaxis; Adaptor/scaffold Chromosomal Location of Human Ortholog: 10q21 Cellular Component: Golgi apparatus; tight junction; cell surface; costamere; sarcoplasmic reticulum; basolateral plasma membrane; endoplasmic reticulum; lysosome; T-tubule; paranode region of axon; 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; cytoskeletal anchoring; regulation of potassium ion transport; generation of action potential; signal transduction; positive regulation of homotypic cell-cell adhesion; establishment of protein localization; plasma membrane organization and biogenesis; axonogenesis; cytokinesis after mitosis; Golgi to plasma membrane protein transport; positive regulation of membrane potential; neuromuscular junction development Disease: Mental Retardation, Autosomal Recessive 37 |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | Q12955 |
| NCBI GenInfo Identifier: | 32967601 |
| NCBI Gene ID: | 288 |
| NCBI Accession: | NP_066267.2 |
| UniProt Secondary Accession: | Q12955,Q13484, Q5CZH9, Q5VXD5, Q7Z3G4, Q9H0P5, B1AQT2 B4DIL1, E9PE32 |
| UniProt Related Accession: | Q12955 |
| Molecular Weight: | 160,947 Da |
| NCBI Full Name: | ankyrin-3 isoform 1 |
| NCBI Synonym Full Names: | ankyrin 3, node of Ranvier (ankyrin G) |
| NCBI Official Symbol: | ANK3 |
| NCBI Official Synonym Symbols: | MRT37; ANKYRIN-G |
| NCBI Protein Information: | ankyrin-3; ankyrin G119 |
| UniProt Protein Name: | Ankyrin-3 |
| UniProt Synonym Protein Names: | Ankyrin-G |
| Protein Family: | Ankyrin |
| UniProt Gene Name: | ANK3 |
| UniProt Entry Name: | ANK3_HUMAN |
