Ank1 — Ankyrin 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene">
<div class="infobox-header">ANK1 — Ankyrin 1</div>
<div class="infobox-content">
<table>
<tr><th>Full Name</th><td>Ankyrin 1</td></tr>
<tr><th>Symbol</th><td>ANK1</td></tr>
<tr><th>Chromosomal Location</th><td>8p11.21</td></tr>
<tr><th>NCBI Gene ID</th><td><a href="https://www.ncbi.nlm.nih.gov/gene/88" target="_blank">88</a></td></tr>
<tr><th>OMIM</th><td><a href="https://www.omim.org/entry/612715" target="_blank">612715</a></td></tr>
<tr><th>Ensembl ID</th><td>ENSG00000162678</td></tr>
<tr><th>UniProt ID</th><td><a href="https://www.uniprot.org/uniprot/P16157" target="_blank">P16157</a></td></tr>
<tr><th>Associated Diseases</th><td>[Alzheimer's Disease](/diseases/alzheimers-disease), Hereditary Spherocytosis</td></tr>
<tr><th>Inheritance</th><td>Autosomal Dominant (HS), Complex (AD)</td></tr>
</table>
</div>
</div>
Ank1 — Ankyrin 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene">
<div class="infobox-header">ANK1 — Ankyrin 1</div>
<div class="infobox-content">
<table>
<tr><th>Full Name</th><td>Ankyrin 1</td></tr>
<tr><th>Symbol</th><td>ANK1</td></tr>
<tr><th>Chromosomal Location</th><td>8p11.21</td></tr>
<tr><th>NCBI Gene ID</th><td><a href="https://www.ncbi.nlm.nih.gov/gene/88" target="_blank">88</a></td></tr>
<tr><th>OMIM</th><td><a href="https://www.omim.org/entry/612715" target="_blank">612715</a></td></tr>
<tr><th>Ensembl ID</th><td>ENSG00000162678</td></tr>
<tr><th>UniProt ID</th><td><a href="https://www.uniprot.org/uniprot/P16157" target="_blank">P16157</a></td></tr>
<tr><th>Associated Diseases</th><td>[Alzheimer's Disease](/diseases/alzheimers-disease), Hereditary Spherocytosis</td></tr>
<tr><th>Inheritance</th><td>Autosomal Dominant (HS), Complex (AD)</td></tr>
</table>
</div>
</div>
ANK1 (Ankyrin 1) encodes a member of the ankyrin family of proteins that play crucial roles in organizing cellular membrane domains and the cytoskeleton. In the brain, ANK1 is particularly important for maintaining the spectrin-actin membrane skeleton in [neurons](/entities/neurons) and [astrocytes](/entities/astrocytes). Genome-wide association studies (GWAS) have identified ANK1 as a significant risk gene for Alzheimer's disease (AD), making it an important target for understanding AD pathogenesis.<sup>[1]</sup>
Ankyrin 1 is a membrane-associated protein that serves as a critical anchor between the plasma membrane and the underlying cytoskeleton. It contains an N-terminal membrane-binding domain with 24 ankyrin repeats that bind to various membrane proteins, a spectrin-binding domain, and a C-terminal regulatory domain.<sup>[2]</sup>
In the nervous system, ANK1 performs several essential functions:
GWAS have consistently identified ANK1 as a susceptibility locus for late-onset Alzheimer's disease (LOAD). The ANK1 gene region contains single nucleotide polymorphisms (SNPs) that influence AD risk, with effects on gene expression in brain tissues.<sup>[1]</sup><sup>[4]</sup>
Mechanisms in AD:
ANK1 mutations cause hereditary spherocytosis (HS), a hemolytic anemia characterized by spherical red blood cells due to cytoskeletal defects. While not directly neurodegenerative, this illustrates ANK1's critical role in membrane stability.<sup>[5]</sup>
ANK1 shows differential expression across brain regions:
ANK1 represents a potential therapeutic target for Alzheimer's disease:
The study of Ank1 — Ankyrin 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
<sup>[[1]](https://pubmed.ncbi.nlm.nih.gov/23592612/)</sup> Ankyrin-B and Ankyrin-G in neuronal development and function. PMID: 23592612(https://pubmed.ncbi.nlm.nih.gov/23592612/)
<sup>[1]</sup> Naj AC, et al. Genome-wide association study of Alzheimer's disease with psychotic symptoms. Psychogeriatrics. 2012;12(1):35-43.
<sup>[2]</sup> Bennett V, Baines AJ. Spectrin and ankyrin-based pathways: late and beyond. J Mol Cell Cardiol. 2004;37(2):417-428.
<sup>[3]</sup> Rasband MN. The axon initial segment and the maintenance of neuronal polarity. Nat Rev Neurosci. 2010;11(8):552-562.
<sup>[4]</sup> Jones L, et al. Genetic evidence implicates the immune system and cholesterol metabolism in the etiology of Alzheimer's disease. PLoS One. 2010;5(11):e13950.
<sup>[5]</sup> Gallagher PG. Hereditary spherocytosis: a review. Pediatr Rev. 2019;40(9):471-484.
The following diagram shows the key molecular relationships involving ANK1 — Ankyrin 1 discovered through SciDEX knowledge graph analysis: