IFRD1 Gene Summary [Human]
This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
Details
| Type | Protein Coding |
| Official Symbol | IFRD1 |
| Official Name | interferon related developmental regulator 1 [Source:HGNC Symbol;Acc:HGNC:5456] |
| Ensembl ID | ENSG00000006652 |
| Bio databases IDs | |
| Aliases | interferon related developmental regulator 1 |
| Synonyms | FRD1, Ifnl, interferon-related developmental regulator 1, LOC102551830, PC4, TIS7 |
| 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 IFRD1 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 factor binding
- Interferon-related developmental regulator (IFRD)
- Interferon-related protein conserved region
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight gain
- organismal death
- systemic lupus erythematosus
- familial adenomatous polyposis
- amyotrophic lateral sclerosis
- cystic fibrosis
- epileptic seizure
role in cell
- expression in
- differentiation
- number
- cell death
- binding in
- fusion
- extension
- acetylation in
- osteoclastogenesis
- polarity
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
- nuclear fraction
- Cytoplasm
- sarcoplasm
- lateral plasma membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IFRD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- myoblast cell fate determination
- negative regulation of collateral sprouting
- negative regulation of axon extension
- muscle cell differentiation
- striated muscle tissue development
- skeletal muscle tissue regeneration
Cellular Component
Where in the cell the gene product is active
- nucleus
- sarcoplasm