Rabbit anti-Human FMR1 Polyclonal Antibody

Uniprot Id

Q06787

Target Species

Human

Target Name

FMR1

Target Full Name

Fragile X messenger ribonucleoprotein 1

Target Function

Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs. Plays a role in the alternative splicing of its own mRNA. Plays a role in mRNA nuclear export. Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons. Stabilizes the scaffolding postsynaptic density protein DLG4/PSD-95 and the myelin basic protein (MBP) mRNAs in hippocampal neurons and glial cells, respectively; this stabilization is further increased in response to metabotropic glutamate receptor (mGluR) stimulation. Plays a role in selective delivery of a subset of dendritic mRNAs to synaptic sites in response to mGluR activation in a kinesin-dependent manner. Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postsynaptic dendritic spines. Component of the CYFIP1-EIF4E-FMR1 complex which blocks cap-dependent mRNA translation initiation. Represses mRNA translation by stalling ribosomal translocation during elongation. Reports are contradictory with regards to its ability to mediate translation inhibition of MBP mRNA in oligodendrocytes. Also involved in the recruitment of the RNA helicase MOV10 to a subset of mRNAs and hence regulates microRNA (miRNA)-mediated translational repression by AGO2. Facilitates the assembly of miRNAs on specific target mRNAs. Plays also a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses. In response to mGluR stimulation, FMR1-target mRNAs are rapidly derepressed, allowing for local translation at synapses. Binds to a large subset of dendritic mRNAs that encode a myriad of proteins involved in pre- and postsynaptic functions. Binds to 5'-ACUbinds to RNA homomer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C). May bind to RNA in Cajal bodies.; binds to RNA homomer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C). May bind to RNA in Cajal bodies.; (Microbial infection) Acts as a positive regulator of influenza A virus (IAV) replication. Required for the assembly and nuclear export of the viral ribonucleoprotein (vRNP) components.

Target Involvement

Fragile X syndrome (FXS); Fragile X tremor/ataxia syndrome (FXTAS); Premature ovarian failure 1 (POF1)

Target Subcellular Location

Nucleus. Nucleus, nucleolus. Chromosome, centromere. Chromosome. Cytoplasm. Cytoplasm, perinuclear region. Cytoplasm, Cytoplasmic ribonucleoprotein granule. Perikaryon. Cell projection, neuron projection. Cell projection, axon. Cell projection, dendrite. Cell projection, dendritic spine. Cell junction, synapse, synaptosome. Cell projection, growth cone. Cell projection, filopodium tip. Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse, presynaptic cell membrane. Cell membrane. Cytoplasm, Stress granule.; [Isoform 6]: Cytoplasm. Cytoplasm, perinuclear region.; [Isoform 9]: Cytoplasm.; [Isoform 10]: Nucleus. Nucleus, Cajal body. Note=Colocalizes with Colin and SMN in Cajal bodies (PubMed:24204304).; [Isoform 11]: Nucleus. Nucleus, Cajal body.

Target Protein Families

FMR1 family

Target Tissue Specificity

Expressed in the brain, cerebellum and testis. Also expressed in epithelial tissues. Expressed in mature oligodendrocytes (OLGs). Expressed in fibroblast. Expressed in neurons, Purkinje cells and spermatogonias (at protein level). Expressed in brain, test

Target Synonyms

POF; FMRP; POF1; FRAXA

Target Background

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.