S100A1
S100 Calcium Binding Protein A1
Gene Information Card
| Symbol | S100A1 |
|---|---|
| Full Name | S100 Calcium Binding Protein A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 6271 ncbi.nlm.nih.gov/gene/6271 |
| Ensembl ID | ENSG00000160678 |
| UniProt ID | P23297 |
| OMIM ID | 176940 |
| HGNC ID | 10496 |
| Aliases | S100, S100-alpha, S100A |
Description
S100A1 is a member of the S100 family of EF-hand calcium-binding proteins. It is predominantly expressed in cardiac and skeletal muscle, where it regulates calcium homeostasis, contractility, and energy metabolism. S100A1 interacts with the ryanodine receptor (RyR2) and SERCA2a, modulating sarcoplasmic reticulum calcium release and reuptake. It also plays roles in cell proliferation, differentiation, and cytoskeletal dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy (DCM) | Reduced S100A1 expression impairs calcium cycling and contractile function in cardiomyocytes | PMID: 16959917; ClinVar |
| Heart Failure | Downregulation of S100A1 correlates with decreased SERCA2a activity and diastolic dysfunction | PMID: 17242288; NCBI Gene |
| Ischemic Heart Disease | Altered S100A1 levels contribute to calcium overload and arrhythmogenesis | PMID: 19843947; OMIM |
| Cardiac Hypertrophy | S100A1 overexpression attenuates hypertrophic signaling via inhibition of calcineurin-NFAT pathway | PMID: 20624902; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 58.2 | High |
| Skeletal Muscle | 42.1 | High |
| Brain | 3.5 | Low |
| Kidney | 2.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 62.4 | High expression; used in functional studies |
| Skeletal muscle myoblasts (C2C12) | 45.0 | Differentiation-dependent expression |
| HEK293 | 1.2 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94G>A (p.Glu32Lys) | Missense | <0.01% | Alters calcium binding affinity; associated with DCM (ClinVar) |
| c.203C>T (p.Pro68Leu) | Missense | <0.01% | Reduced protein stability; reported in heart failure (COSMIC) |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation; likely pathogenic (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Glu32Lys) reduce calcium binding and impair interaction with RyR2, leading to defective calcium cycling.
Gain of Function (GOF)
Not reported in S100A1.
Dominant Negative (DN)
Not reported in S100A1.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • protein homodimerization activity |
| • ryanodine receptor binding | • regulation of cardiac muscle contraction |
| • positive regulation of calcium ion transport | • cellular response to calcium ion |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Cardiac muscle contraction (KEGG: hsa04260)
• S100 protein signaling (Reactome: R-HSA-982123)
Protein Summary
S100A1 is a 10.4 kDa homodimeric protein containing two EF-hand calcium-binding domains. It is highly expressed in cardiac and skeletal muscle, where it modulates calcium-dependent processes. The protein interacts with key calcium-handling proteins such as RyR2 and SERCA2a, influencing contractility and relaxation. S100A1 also participates in cytoskeletal organization and cell cycle regulation. Its downregulation is implicated in heart failure and dilated cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| S100A10 Knockout HEK293 Cell Line | EDJ-KQ3811 | Human | 6281 | Details Get a Quote |
| S100A1 Knockout HEK293 Cell Line | EDJ-KQ5699 | Human | 6271 | Details Get a Quote |
| S100A12 Knockout HEK293 Cell Line | EDJ-KQ5704 | Human | 6283 | Details Get a Quote |
| S100A16 Knockout HEK293 Cell Line | EDJ-KQ9784 | Human | 140576 | Details Get a Quote |
| S100A14 Knockout HEK293 Cell Line | EDJ-KQ15154 | Human | 57402 | Details Get a Quote |
| S100A10 Knockout A-549 Cell Line | EDJ-KQ25938 | Human | 6281 | Details Get a Quote |
| S100A10 Knockout HCT 116 Cell Line | EDJ-KQ25939 | Human | 6281 | Details Get a Quote |
| S100A10 Knockout HeLa Cell Line | EDJ-KQ25940 | Human | 6281 | Details Get a Quote |
| S100A1 Knockout A-549 Cell Line | EDJ-KQ29067 | Human | 6271 | Details Get a Quote |
| S100A1 Knockout HCT 116 Cell Line | EDJ-KQ29068 | Human | 6271 | Details Get a Quote |
| S100A1 Knockout HeLa Cell Line | EDJ-KQ29069 | Human | 6271 | Details Get a Quote |
| S100A16 Knockout HeLa Cell Line | EDJ-KQ35422 | Human | 140576 | Details Get a Quote |
| S100A16 Knockout A-549 Cell Line | EDJ-KQ36632 | Human | 140576 | Details Get a Quote |
| S100A16 Knockout HCT 116 Cell Line | EDJ-KQ36633 | Human | 140576 | Details Get a Quote |
| S100A14 Knockout HCT 116 Cell Line | EDJ-KQ45754 | Human | 57402 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
