S100A1 Gene
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">S100A1 — S100 Calcium Binding Protein A1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>S100A1</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>S100 Calcium Binding Protein A1</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>1q21.3</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/6275" target="_blank">6275</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163154" target="_blank">ENSG00000163154</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/176940" target="_blank">176940</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/P26447" target="_blank">P26447</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Alzheimer's Disease](/diseases/alzheimers), [Parkinson's Disease](/diseases/parkinsons-disease), Cardiomyopathy</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Heart, Skeletal muscle, Brain ([neurons](/entities/neurons), glia), Kidney</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>
S100A1 — S100 Calcium Binding Protein A1
Introduction
...S100A1 Gene
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">S100A1 — S100 Calcium Binding Protein A1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>S100A1</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>S100 Calcium Binding Protein A1</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>1q21.3</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/6275" target="_blank">6275</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163154" target="_blank">ENSG00000163154</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/176940" target="_blank">176940</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/P26447" target="_blank">P26447</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Alzheimer's Disease](/diseases/alzheimers), [Parkinson's Disease](/diseases/parkinsons-disease), Cardiomyopathy</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Heart, Skeletal muscle, Brain ([neurons](/entities/neurons), glia), Kidney</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>
S100A1 — S100 Calcium Binding Protein A1
Introduction
S100A1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Overview
S100A1 (S100 Calcium Binding Protein A1) is a member of the S100 family of calcium-binding proteins. Located on chromosome 1q21.3, S100A1 encodes a small acidic protein (approximately 10 kDa) that functions as a calcium sensor and signal transducer in various cell types [1][2].
S100A1 is characterized by its EF-hand calcium-binding motifs and its ability to form homodimers and heterodimers with other S100 proteins. The protein is abundantly expressed in the heart, skeletal muscle, and central nervous system, where it regulates numerous cellular processes including muscle contraction, energy metabolism, and neuronal survival [3][4].
Gene Structure and Expression
Genomic Organization
The S100A1 gene consists of 3 exons spanning approximately 4.5 kb. It encodes a protein of 94 amino acids with a molecular weight of approximately 10.7 kDa. The gene is part of the S100 gene cluster on chromosome 1, which contains at least 16 S100 genes [5].
Brain Expression Pattern
In the nervous system, S100A1 is expressed in:
- Neurons - Pyramidal neurons, Purkinje cells
- [Astrocytes](/entities/astrocytes) - Bergmann glia
- Oligodendrocytes - Myelinating oligodendrocytes
- Schwann cells - Peripheral nervous system
Normal Function
Calcium Binding
S100A1 contains two EF-hand calcium-binding motifs:
- N-terminal EF-hand - Low-affinity, S100-specific
- C-terminal EF-hand - High-affinity, classical
Upon calcium binding, S100A1 undergoes conformational changes that expose hydrophobic surfaces for target protein binding.
Target Proteins
S100A1 interacts with numerous target proteins:
- Muscle proteins - Titin, ryanodine receptor, troponin C
- Cytoskeletal proteins - Tubulin, intermediate filaments
- Enzymes - Aldolase C, phosphoglucomutase
- Signaling proteins - PI3-kinase, PKC
Cellular Functions
In the nervous system, S100A1:
- Modulates neuronal calcium signaling
- Regulates cytoskeletal dynamics
- Influences neurotransmitter release
- Affects astrocyte function
Role in Neurodegenerative Diseases
Alzheimer's Disease
S100A1 is implicated in AD pathogenesis:
Calcium Dysregulation
- Alters neuronal calcium homeostasis
- Interacts with [amyloid-beta](/proteins/amyloid-beta)
- May influence plaque formation
Neuroprotection
- Neurotrophic effects
- Anti-apoptotic signaling
- Glial-mediated protection
Glial Function
- Modulates astrocyte activation
- Affects neuroinflammation
Parkinson's Disease
In PD:
Dopaminergic Neurons
- Expressed in substantia nigra
- May protect against oxidative stress
[Alpha-Synuclein](/proteins/alpha-synuclein) Interactions
- Can bind to alpha-synuclein
- May influence aggregation
Other Neurodegenerative Conditions
- Stroke and ischemic injury
- Traumatic brain injury
- Multiple sclerosis
Therapeutic Implications
Drug Development
S100A1 represents a therapeutic target:
- Agonists - Could enhance neuroprotection
- Antagonists - May be needed in certain contexts
Biomarker Potential
S100A1 has been explored as a biomarker for:
- Cardiac injury
- CNS damage
- Inflammatory conditions
Key Publications
[Donato et al., S100 proteins (2009)](https://doi.org/10.1016/j.neuropharm.2009.04.012)
[Marenholz et al., S100 phylogeny (2004)](https://doi.org/10.1016/j.tics.2004.09.004)
[Van Eldik et al., S100 in brain (2003)](https://doi.org/10.1016/S0301-0082(03)00090-9)Background
The study of S100A1 Gene 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.
See Also
- [S100B](/genes/s100b)
- [S100 proteins](/content/proteins)
- [Calcium signaling](/mechanisms/calcium-dysregulation-alzheimers)
- [Alzheimer's Disease](/diseases/alzheimers-disease)
- [Parkinson's Disease](/diseases/parkinsons-disease)
External Links
- [NCBI Gene: S100A1](https://www.ncbi.nlm.nih.gov/gene/6275)
- [UniProt: S100A1](https://www.uniprot.org/uniprot/P26447)
- [Ensembl: S100A1](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163154)
References
[Unknown, S100A1 calcium binding protein in neurological disease (2015)](https://doi.org/10.1016/j.neuroscience.2015.08.005))
[Unknown, S100 proteins in brain physiology and pathology (2003)](https://doi.org/10.1016/S0301-0082(03))
[Unknown, S100A1 in cardiac and skeletal muscle function (2010)](https://doi.org/10.1016/j.yjmcc.2010.09.012))
[Unknown, Calcium dysregulation in neurodegenerative diseases (2020)](https://doi.org/10.1016/j.neuropharm.2020.108220))