FMR1
FMR1 (fragile X messenger ribonucleoprotein 1, also known as FMRP, FRAXA, POF1 and POF) encodes an RNA-binding protein associated with polysomes. It is linked to mRNA trafficking from the nucleus to the cytoplasm and to fragile X syndrome. Browse Assay Genie's current range of FMR1 research reagents below, or read on for the biology behind the target.
The FMR1 protein binds RNA and is associated with polysomes. According to the NCBI Gene summary, it may be involved in mRNA trafficking from the nucleus to the cytoplasm. UniProt also records a role in infection: FMR1 acts as a positive regulator of influenza A virus replication and is required for the assembly and nuclear export of viral ribonucleoprotein (vRNP) components.
The FMR1 gene belongs to the FMR1 family. Its protein localises to many compartments. These include cytoplasmic ribonucleoprotein granules, stress granules, the perinuclear region and neuron projections such as axons, dendrites, dendritic spines and growth cones. It is also found at synapses, on pre- and postsynaptic membranes, and in the nucleus, including the nucleolus and Cajal bodies, and at chromosomes and centromeres. The gene produces multiple alternatively spliced transcript variants. These encode different protein isoforms that sit in different cellular locations, so researchers working with an FMR1 antibody or an FMR1 ELISA kit should consider which isoform and compartment is relevant.
The gene carries a CGG trinucleotide repeat in its 5' UTR. This is normally present at 6-53 copies. Expansion to 55-230 repeats causes fragile X syndrome, and expansion may also cause one form of premature ovarian failure (POF1). The gene's names reflect this history: fragile X mental retardation 1, premature ovarian failure 1 and FMRP translational regulator 1. The product is commonly called FMRP, and the mouse and rat orthologues are both named Fmr1.
CGG repeat expansion in the 5' UTR of the FMR1 gene is the cause of fragile X syndrome.
Repeat expansion in FMR1 may also cause one form of premature ovarian failure, designated POF1.
FMR1 binds RNA, associates with polysomes and may contribute to mRNA transport from the nucleus to the cytoplasm.
FMR1 positively regulates influenza A virus replication and is needed for vRNP assembly and nuclear export.
FMR1 encodes an RNA-binding protein associated with polysomes, and it may be involved in mRNA trafficking from the nucleus to the cytoplasm. UniProt also reports that it positively regulates influenza A virus replication, being required for vRNP assembly and nuclear export.
FMR1 is also known as FMRP, FRAXA, POF1, POF and MGC87458. Earlier names include fragile X mental retardation 1 and premature ovarian failure 1. Multiple alternatively spliced transcripts encode different isoforms that are found in different cellular locations.
The normal 5' UTR CGG repeat of 6-53 copies can expand to 55-230 repeats, which causes fragile X syndrome and may cause one form of premature ovarian failure. Mouse and rat both have an Fmr1 orthologue; check the datasheet of any product for its validated reactivity.
Other RNA-binding proteins, translational regulators and neurodevelopmental markers with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q06787; product specifications from Assay Genie datasheets.