Ankyrin-3

ANK3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4O6X
Identifiers
Aliases	ANK3, ANKYRIN-G, MRT37, ankyrin 3, node of Ranvier (ankyrin G), ankyrin 3
External IDs	OMIM: 600465; MGI: 88026; HomoloGene: 56908; GeneCards: ANK3; OMA:ANK3 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q21.2 Start 60,026,298 bp[1] End 60,733,490 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 B5.3|10 36.1 cM Start 69,398,773 bp[2] End 70,027,438 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 middle temporal gyrus Region I of hippocampus proper inferior olivary nucleus postcentral gyrus cerebellar vermis corpus epididymis right ventricle orbitofrontal cortex Top expressed in lateral geniculate nucleus pontine nuclei ventromedial nucleus mammillary body medial geniculate nucleus lateral hypothalamus olfactory tubercle nucleus accumbens globus pallidus cerebellar vermis More reference expression data BioGPS n/a
Gene ontology Molecular function protein-macromolecule adaptor activity cadherin binding cytoskeletal protein binding structural constituent of cytoskeleton protein binding spectrin binding transmembrane transporter binding Cellular component cytoplasm cytosol Golgi apparatus cell projection lateral plasma membrane membrane bicellular tight junction T-tubule synapse cell surface axon cell junction basal plasma membrane basolateral plasma membrane endoplasmic reticulum spectrin-associated cytoskeleton sarcolemma lysosome costamere cytoskeleton dendrite postsynaptic membrane sarcoplasmic reticulum neuron projection neuromuscular junction Z disc plasma membrane intercalated disc node of Ranvier axon initial segment Biological process regulation of potassium ion transport positive regulation of membrane depolarization during cardiac muscle cell action potential establishment of protein localization mitotic cytokinesis endoplasmic reticulum to Golgi vesicle-mediated transport maintenance of protein location in plasma membrane positive regulation of gene expression positive regulation of sodium ion transport positive regulation of sodium ion transmembrane transporter activity positive regulation of membrane potential plasma membrane organization signal transduction Golgi to plasma membrane protein transport neuromuscular junction development positive regulation of cell communication by electrical coupling positive regulation of homotypic cell-cell adhesion positive regulation of protein targeting to membrane membrane assembly positive regulation of cation channel activity axonogenesis magnesium ion homeostasis neuronal action potential cellular response to magnesium ion protein localization to plasma membrane negative regulation of delayed rectifier potassium channel activity protein localization to axon Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 288 11735 Ensembl ENSG00000151150 ENSMUSG00000069601 UniProt Q12955 G5E8K5 RefSeq (mRNA) NM_001149 NM_001204403 NM_001204404 NM_020987 NM_001320874 NM_009670 NM_146005 NM_170687 NM_170688 NM_170689 NM_170690 NM_170728 NM_170729 NM_170730 RefSeq (protein) NP_001140 NP_001191332 NP_001191333 NP_001307803 NP_066267 NP_033800 NP_666117 NP_733788 NP_733789 NP_733790 NP_733791 NP_733924 NP_733925 NP_733926 Location (UCSC) Chr 10: 60.03 – 60.73 Mb Chr 10: 69.4 – 70.03 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Ankyrin-3 (ANK-3), also known as ankyrin-G, is a protein from ankyrin family that in humans is encoded by the ANK3 gene.^[5][6]

Function

The protein encoded by this gene, ankyrin-3 is an immunologically distinct gene product from ankyrins ANK1 and ANK2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Alternatively spliced variants may be expressed in other tissues. Although multiple transcript variants encoding several different isoforms have been found for this gene, the full-length nature of only two have been characterized.^[5]

Within the nervous system, ankyrin-G is specifically localized to the neuromuscular junction, the axon initial segment and the Nodes of Ranvier.^[7] Within the nodes of Ranvier where action potentials are actively propagated, ankyrin-G has long been thought to be the intermediate binding partner to neurofascin and voltage-gated sodium channels.^[8] The genetic deletion of ankyrin-G from multiple neuron types has shown that ankyrin-G is required for the normal clustering of voltage-gated sodium channels at the axon hillock and for action potential firing.^[9][10]

Disease linkage

The ANK3 protein associates with the cardiac sodium channel Na_v1.5 (SCN5A). Both proteins are highly expressed at ventricular intercalated disc and T-tubule membranes in cardiomyocytes. A mutation in the Na_v1.5 protein blocks interaction with ANK3 binding and therefore disrupts surface expression of Na_v1.5 in cardiomyocytes resulting in Brugada syndrome, a type of cardiac arrhythmia.^[11]

Other mutations in the ANK3 gene may be involved in the bipolar disorder and intellectual disability.^{[12][13][14][15]}

Ankyrin family

The protein encoded by the ANK3 gene is a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. 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.^[5]

References

Further reading

External links

• ANK3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ANK3 genome location and ANK3 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.