FXR1 Gene Summary [Human]
The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | FXR1 |
| Official Name | FMR1 autosomal homolog 1 [Source:HGNC Symbol;Acc:HGNC:4023] |
| Ensembl ID | ENSG00000114416 |
| Bio databases IDs | |
| Aliases | FMR1 autosomal homolog 1 |
| Synonyms | 1110050J02Rik, 9530073J07Rik, AA959924, AI851072, CMYO9A, CMYO9B, CMYP9A, CMYP9B, FMR1 autosomal homolog 1, FXR1H, FXR1P, LOC100366044, MYOPMIL, MYORIBF |
| 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 FXR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fragile X-related 1 protein core C terminal
- Fragile X-related 1 protein C-terminal region 2
- FMRP KH0 domain
- nucleic acid binding
- mRNA binding
- protein binding activity, bridging
- isomerase
- enzyme
- K homology RNA-binding domain
- protein binding
- Fragile X-related 1 protein C-terminal region 3
- single-stranded RNA binding
- Fragile X mental retardation Tudor domain
- RNA binding
- Tudor-like domain present in plant sequences
- mRNA 3' UTR binding
- KH domain
- K homology (KH) RNA-binding domain, type I
- ribonucleoprotein binding
- protein homodimerization
- Agenet domain
- Tudor domain superfamily
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial neoplasia
- epithelial cancer
- lung adenocarcinoma formation
- non-small cell lung cancer
- experimental autoimmune encephalomyelitis
- acute myeloid leukemia
- low-grade glioma
- glioma formation
- congenital proximal myopathy with minicore lesions
role in cell
- apoptosis
- translation in
- expression in
- accumulation in
- development
- abnormal morphology
- processing in
- neurite outgrowth in
- proliferative capacity
- retention in
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
- nuclear fraction
- polyribosome fractions
- glutaminergic synapse
- cytoplasmic ribonucleoprotein granule
- ribonucleoprotein granule
- organelle
- perinuclear region
- postsynaptic region
- ribosome
- Nucleus
- costameres
- polysomes
- cytosol
- nucleoli
- nuclear envelope
- dendritic spines
- stress granule
- axons
- dendrites
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FXR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of long-term synaptic potentiation
- mRNA destabilization
- positive regulation of translation
- spermatid development
- negative regulation of inflammatory response
- regulation of mRNA stability
- skeletal muscle organ development
- organ development
- nuclear pore complex assembly
- dentate gyrus development
- muscle organ development
- nuclear pore localization
- positive regulation of gene silencing by miRNA
- regulation of circadian sleep/wake cycle, sleep
- apoptotic process
- regulation of synaptic transmission, glutamatergic
- negative regulation of translation
- regulation of neurogenesis
- mRNA transport
- negative regulation of tumor necrosis factor production
- positive regulation of long-term neuronal synaptic plasticity
Cellular Component
Where in the cell the gene product is active
- cytoplasmic stress granule
- costamere
- intracellular non-membrane-bounded organelle
- ribosome
- nucleolus
- neuron projection
- nuclear envelope
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- dendritic spine
- membrane
- cytosol
- axon
Molecular Function
What the gene product does at the molecular level
- translation regulator activity
- RNA binding
- protein homodimerization activity
- protein binding
- mRNA 3'-UTR AU-rich region binding
- protein heterodimerization activity
- RNA strand annealing activity
- mRNA 3'-UTR binding