FRRS1L Gene Summary [Human]
This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | FRRS1L |
| Official Name | ferric chelate reductase 1 like [Source:HGNC Symbol;Acc:HGNC:1362] |
| Ensembl ID | ENSG00000260230 |
| Bio databases IDs | |
| Aliases | ferric chelate reductase 1 like |
| Synonyms | 6430704M03Rik, C9orf4, CG-6, DEE37, EIEE37, Epb4.1l4b, ferric-chelate reductase 1-like, LOC682088, Ptph1 |
| 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 FRRS1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domon-like ligand-binding domains
- binding protein
- dynein intermediate chain binding
- DOMON domain
- transporter
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.
- Cytoplasm
- low-density microsomal fraction
- postsynaptic region
- Plasma Membrane
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FRRS1L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of synaptic transmission, glutamatergic
- regulation of glutamate receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- synapse
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- dynein intermediate chain binding