FXR1: FMR1 Autosomal Homolog 1, RNA Binding Protein
A key regulator of mRNA stability and translation, implicated in neurodevelopment and cancer.
Gene Information Card
| Symbol | FXR1 |
|---|---|
| Full Name | FMR1 autosomal homolog 1, RNA binding protein |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.33 |
| NCBI Gene ID | 8087 ncbi.nlm.nih.gov/gene/8087 |
| Ensembl ID | ENSG00000114480 |
| UniProt ID | P51114 |
| OMIM ID | 600819 |
| HGNC ID | 4023 |
| Aliases | FXR1P, FXR1A, FXR1B, hFXR1p |
Description
FXR1 (FMR1 Autosomal Homolog 1) is a member of the fragile X-related gene family, encoding an RNA-binding protein involved in mRNA transport, stability, and translation. It is ubiquitously expressed, with highest levels in muscle and brain. FXR1 interacts with FMRP and FXR2 to form complexes that regulate synaptic plasticity and muscle development. Dysregulation of FXR1 is associated with neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fragile X-associated tremor/ataxia syndrome (FXTAS) | Expanded CGG repeats in FMR1 may sequester FXR1, disrupting RNA metabolism | OMIM #300623 |
| Autism spectrum disorder | FXR1 variants alter mRNA targets involved in synaptic function | ClinVar, PMID: 23453885 |
| Breast cancer | FXR1 overexpression promotes proliferation and metastasis via mRNA stabilization | COSMIC, PMID: 25691811 |
| Ovarian cancer | FXR1 upregulation correlates with poor prognosis and chemoresistance | COSMIC, PMID: 27323850 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 18.3 | High |
| Skeletal muscle | 25.1 | High |
| Liver | 8.2 | Low |
| Testis | 15.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Embryonic kidney |
| HeLa | 11.8 | Cervical cancer |
| SH-SY5Y | 16.5 | Neuroblastoma |
| MCF7 | 20.1 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.125G>A (p.Arg42Gln) | Missense | 0.01% | Altered RNA binding affinity |
| c.457C>T (p.Arg153Trp) | Missense | 0.005% | Reduced protein stability |
| c.789_790insA | Frameshift | 0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing RNA binding and complex formation.
Gain of Function (GOF)
Missense mutations that enhance mRNA target stabilization, linked to oncogenic activity.
Dominant Negative (DN)
Missense mutations that disrupt FXR1-FMRP interaction, leading to dysregulated translation.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • cytoplasm (GO:0005737) |
| • negative regulation of translation (GO:0017148) | • neuronal cell body (GO:0043025) |
| • ribonucleoprotein complex (GO:1990904) |
Pathways
• Fragile X syndrome (WP3932)
• mRNA surveillance pathway (KEGG hsa03015)
• RNA transport (KEGG hsa03013)
Protein Summary
FXR1 encodes a 677-amino acid RNA-binding protein with two KH domains and an RGG box. It shuttles between nucleus and cytoplasm, binding to specific mRNAs (e.g., MAP1B, APP) to regulate their translation and stability. FXR1 forms heterodimers with FMRP and FXR2, and is essential for normal muscle development and synaptic plasticity. Post-translational modifications include phosphorylation and methylation, which modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FXR1 Knockout HEK293 Cell Line | EDJ-KQ2559 | Human | 8087 | Details Get a Quote |
| FXR1 Knockout A-549 Cell Line | EDJ-KQ23216 | Human | 8087 | Details Get a Quote |
| FXR1 Knockout HCT 116 Cell Line | EDJ-KQ23217 | Human | 8087 | Details Get a Quote |
| FXR1 Knockout HeLa Cell Line | EDJ-KQ23218 | Human | 8087 | Details Get a Quote |
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