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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
S100A1
S100 calcium binding protein A1
Chromosome 1 Β· 1q21.3
NCBI Gene: 6271Ensembl: ENSG00000160678.13HGNC: HGNC:10486UniProt: A0A0S2Z4H2
132PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of sprouting angiogenesisidentical protein bindingsarcoplasmic reticulumprotein homodimerization activityinborn error of immunityneurodegenerative diseaseneutropenianeoplasm
✦AI Summary

S100A1 is a small calcium-binding protein that serves as a critical regulator of cardiac calcium homeostasis and contractile function 1. The protein binds calcium in response to increased intracellular Ca2+ levels, triggering conformational changes that enable interactions with specific target proteins 2. In cardiomyocytes, S100A1 enhances calcium cycling by interacting with key calcium regulatory proteins including SERCA2a, ryanodine receptors, L-type calcium channels, and Na+/Ca2+ exchangers 1. Beyond calcium regulation, S100A1 influences energy balance, myofilament function, and cardiac remodeling processes 1. The protein also localizes to the mitochondrial intermembrane space where it acts as a calcium sensor, regulating mitochondrial bioenergetics and ATP production 3. Clinically, S100A1 shows therapeutic potential for heart failure treatment, as it appears to normalize cardiac function after myocardial infarction and enhance cardiomyocyte functional reserve 1. Gene therapy studies using AAV5-mediated S100A1 delivery have demonstrated cardioprotective effects, preventing left ventricular remodeling and improving ejection fraction in post-infarction models 4. The protein is also expressed in skeletal muscle, with higher levels observed in type 1 muscle fibers 5.

Sources cited
1
S100A1 is the most abundant S100 protein in myocardial tissue and enhances calcium cycling through interactions with calcium regulatory proteins
PMID: 25157660
2
S100A1 binds calcium triggering conformational changes that enable protein target interactions
PMID: 32027773
3
S100A1 localizes to mitochondrial intermembrane space as calcium sensor regulating bioenergetics
PMID: 39392359
4
AAV5-S100A1 gene therapy prevents cardiac remodeling and improves function in post-infarction models
PMID: 40534567
5
S100A1 shows higher expression in type 1 skeletal muscle fibers
PMID: 39786556
Disease Associationsβ“˜20
inborn error of immunityOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.23Weak
neutropeniaOpen Targets
0.21Weak
neoplasmOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
melanomaOpen Targets
0.10Suggestive
Autoimmune HepatitisOpen Targets
0.10Suggestive
pancreatic adenocarcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
strokeOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.08Suggestive
papillary thyroid carcinomaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
acute myocardial infarctionOpen Targets
0.08Suggestive
Familial advanced sleep-phase syndromeOpen Targets
0.08Suggestive
medulloblastomaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TP53Protein interaction100%TLR4Protein interaction100%CALML4Protein interaction100%CALML3Protein interaction100%CALML6Protein interaction100%S100A2Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
18%
Liver
1%
Lung
1%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
S100A1TP53TLR4CALML4CALML3CALML6S100A2
PROTEIN STRUCTURE
Preparing viewer…
PDB5K89 Β· 2.25 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.40Tolerant
Observed/Expected LoF0.37 [0.17–0.96]
RankingsWhere S100A1 stands among ~20K protein-coding genes
  • #3,539of 20,598
    Most Researched132 Β· top quartile
  • #9,095of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedS100A1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cardiac-Targeted AAV5-S100A1 Gene Therapy Protects Against Adverse Remodeling and Contractile Dysfunction in Postischemic Hearts.
PMID: 40534567
Circ Heart Fail Β· 2025
1.00
2
Role of S100A1, S100A4, S100A8/A9 and S100B in myocardial infarction and heart failure.
PMID: 40024216
Int Immunopharmacol Β· 2025
0.90
3
Single-Cell RNA-Seq Analysis of Cells from Degenerating and Non-Degenerating Intervertebral Discs from the Same Individual Reveals New Biomarkers for Intervertebral Disc Degeneration.
PMID: 35409356
Int J Mol Sci Β· 2022
0.80
4
The Zn
PMID: 32027773
Biol Rev Camb Philos Soc Β· 2020
0.70
5
In situ spatial transcriptomic analysis of human skeletal muscle using the Xenium platform.
PMID: 39786556
Cell Tissue Res Β· 2025
0.60