FMR1 Gene Summary [Human]
The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | FMR1 |
| Official Name | FMRP translational regulator 1 [Source:HGNC Symbol;Acc:HGNC:3775] |
| Ensembl ID | ENSG00000102081 |
| Bio databases IDs | |
| Aliases | FMRP translational regulator 1, fragile X messenger ribonucleoprotein 1 |
| Synonyms | FMRP, fragile X messenger ribonucleoprotein 1, FRAXA, Fxr1p, POF, POF1 |
| 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 FMR1 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
- protein binding activity, bridging
- chromatin binding
- K homology RNA-binding domain
- Fragile X-related mental retardation protein C-terminal region 2
- enzyme
- identical protein binding
- translation regulator
- Fragile X mental retardation Tudor domain
- RNA 7-methylguanosine cap binding
- KH domain
- ribosome binding
- ion channel binding
- Agenet domain
- RGG domain
- histone binding
- protein kinase binding
- nucleic acid binding
- mRNA binding
- translation repressor
- FMRP KH0 domain
- protein phosphatase binding
- poly(A) binding protein
- isomerase
- protein domain specific binding
- protein binding
- single-stranded RNA binding
- RNA binding
- poly(U) binding protein
- phosphorylation site
- microtubule binding
- binding protein
- mRNA 3' UTR binding
- K homology (KH) RNA-binding domain, type I
- mRNA 5' UTR binding
- protein homodimerization
- Tudor domain superfamily
- RNA-binding domain
- 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
- renal clear cell adenocarcinoma
- seizures
- colorectal cancer
- hyperactive behavior
- hereditary disorder
- mental retardation
- memory deficits
- fragile X syndrome
- poor social function
- hypersensitive reaction
role in cell
- apoptosis
- phosphorylation in
- expression in
- activation in
- accumulation in
- differentiation
- degradation in
- binding in
- formation
- formation 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
- microtubule cytoskeleton
- cytoplasmic ribonucleoprotein granule
- organelle
- presynaptic regions
- perinuclear region
- postsynaptic region
- ribosome
- Nucleus
- axonemes
- polysomes
- cytosol
- synaptic membrane
- chromosome
- nucleosomes
- nuclear pores
- nucleoplasm
- nucleoli
- Cajal bodies
- dendritic spines
- spine apparatus
- dendritic spine neck
- dendritic spine head
- growth cone
- neurites
- dendrite initial segments
- synaptosomes
- synapse
- glial cell projections
- stress granule
- rough endoplasmic reticulum membrane
- cellular protrusions
- filopodia
- perikaryon
- axons
- dendrites
- postsynaptic density
- axon terminals
- synaptosomal fractions
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FMR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- RNA splicing
- negative regulation of translational initiation
- positive regulation of translation
- nervous system development
- negative regulation of gene silencing by miRNA
- positive regulation of filopodium assembly
- negative regulation of long term synaptic depression
- regulation of mRNA stability
- organ development
- glutamate receptor signaling pathway
- regulation of filopodium assembly
- regulation of alternative nuclear mRNA splicing, via spliceosome
- positive regulation of gene silencing by miRNA
- negative regulation of translation
- mRNA transport
- regulation of neurotransmitter secretion
- stress granule assembly
- positive regulation of receptor internalization
- regulation of dendritic spine development
- positive regulation of dendritic spine development
- mRNA processing
- mRNA export from nucleus
- gene silencing by RNA
- negative regulation of cytoplasmic translation
- positive regulation of long-term neuronal synaptic plasticity
- negative regulation of synaptic vesicle exocytosis
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- postsynaptic density
- Cajal body
- synapse
- chromosome
- nucleolus
- chromosome, centromeric region
- perikaryon
- neuron projection
- cell projection
- nucleoplasm
- growth cone
- dendrite
- postsynaptic membrane
- dendritic spine
- cytosol
- neuronal ribonucleoprotein granule
- axon
- cytoplasmic stress granule
- intracellular non-membrane-bounded organelle
- axon terminus
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- membrane
- chromocenter
- filopodium tip
- SMN complex
Molecular Function
What the gene product does at the molecular level
- methylated histone residue binding
- translation repressor activity
- poly(U) RNA binding
- mRNA 3'-UTR binding
- RNA binding
- mRNA 5'-UTR binding
- protein heterodimerization activity
- RNA stem-loop binding
- mRNA binding
- dynein complex binding
- miRNA binding
- identical protein binding
- protein homodimerization activity
- poly(G) RNA binding
- signaling adaptor activity
- RNA strand annealing activity
- siRNA binding
- G-quadruplex RNA binding
- chromatin binding
- ion channel binding
- microtubule binding
- translation regulator activity
- protein binding
- ribosome binding
- translation initiation factor binding