FRG1 Gene Summary [Human]
This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | FRG1 |
| Official Name | FSHD region gene 1 [Source:HGNC Symbol;Acc:HGNC:3954] |
| Ensembl ID | ENSG00000109536 |
| Bio databases IDs | |
| Aliases | FSHD region gene 1 |
| Synonyms | FRG1A, FSG1, FSHD region gene 1 |
| 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 FRG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- fascin-like domain, beta-trefoil fold, found in the fascin-like family
- protein binding
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- catalytic step 2 spliceosome
- nuclear speckles
- Cajal bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FRG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- rRNA processing
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- Z disc
- catalytic step 2 spliceosome
- striated muscle dense body
- Cajal body
- nucleolus
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- RNA binding
- protein binding