STAC3 Gene Summary [Human]
The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
Details
| Type | Protein Coding |
| Official Symbol | STAC3 |
| Official Name | SH3 and cysteine rich domain 3 [Source:HGNC Symbol;Acc:HGNC:28423] |
| Ensembl ID | ENSG00000185482 |
| Bio databases IDs | |
| Aliases | SH3 and cysteine rich domain 3 |
| Synonyms | 9830125E18, CMYO13, CMYP13, MYPBB, NAM, SH3 and cysteine rich domain 3 |
| 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 STAC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Unstructured on SH3 and cysteine-rich domain-containing protein 2
- protein kinase C conserved region 1 (C1 domain) superfamily
- C1 domain
- protein binding
- identical protein binding
- Src Homology 3 domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cytosol
- cytoplasmic face of plasma membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human STAC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal muscle contraction
- neuromuscular synaptic transmission
- skeletal muscle fiber development
Cellular Component
Where in the cell the gene product is active
- T-tubule
- voltage-gated calcium channel complex
- cytosol
- synapse
- internal side of plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- metal ion binding