S100A1 Gene Summary [Human]
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | S100A1 |
| Official Name | S100 calcium binding protein A1 [Source:HGNC Symbol;Acc:HGNC:10486] |
| Ensembl ID | ENSG00000160678 |
| Bio databases IDs | |
| Aliases | S100 calcium binding protein A1 |
| Synonyms | S100, S100A, S100-alpha, S100 calcium binding protein A1, S100-α |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human S100A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- calcium-dependent protein binding
- EF-hand, calcium binding motif
- ATPase binding
- S-100/ICaBP type calcium binding domain
- EF-hand domain pair
- EF hand
- calcium ion binding
- protein homodimerization
- EFh
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- rotator cuff injury
- schizophrenia
- androgenic alopecia
- Hashimoto thyroiditis
- endometriosis
- Graves disease
- pulmonary hypertension
- productive infection by HIV-1
role in cell
- apoptosis
- growth
- quantity
- motility
- shortening
- contractility
- regulation
- colony formation
- size
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Extracellular Space
- Nucleus
- Plasma Membrane
- sarcoplasmic reticulum
- Golgi Apparatus
- Mitochondria
- sarcomere
- cytosol
- nucleoplasm
- perinuclear space
- neuromuscular junctions
- nerve ending
- I band
- sarcoplasmic reticulum vesicle
- Z line
- actin stress fibers
- perikaryon
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human S100A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of nitric-oxide synthase activity
- regulation of heart contraction
- intracellular signal transduction
- substantia nigra development
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- sarcoplasmic reticulum
- mitochondrion
- cytosol
- macromolecular complex
- Golgi apparatus
- extracellular region
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- protein homodimerization activity
- calcium ion binding
- calcium-dependent protein binding
- S100 protein binding
- ATPase binding