FMR1 Antibody – Mouse Monoclonal

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]

FMR1: Translation repressor. Component of the CYFIP1-EIF4E- FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression. RNA- binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C). Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with CYFIP1 and CYFIP2. The interaction with brain cytoplasmic RNA 1 (BC1) increases binding affinity for the CYFIP1-EIF4E complex in the brain. Homooligomer. Found in a RNP granule complex with IGF2BP1. Directly interacts with SMN and TDRD3. Interacts with the SMN core complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with FXR1, FXR2, IGF2BP1, NUFIP1, NUFIP2, MCRS1 and RANBP9. Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells. Belongs to the FMR1 family. 8 isoforms of the human protein are produced by alternative splicing.

Protein type: Nucleolus; RNA-binding; Translation

Chromosomal Location of Human Ortholog: Xq27.3

Cellular Component: axon; cell projection; chromocenter; chromosome; cytoplasm; dendrite; dendritic spine; extrinsic to plasma membrane; filopodium tip; growth cone; membrane; mRNA cap complex; nerve terminal; neuron projection; nucleolus; nucleoplasm; nucleus; perikaryon; perinuclear region of cytoplasm; polysomal ribosome; polysome; postsynaptic density; ribonucleoprotein complex; SMN complex; synapse

Molecular Function: chromatin binding; dynein binding; identical protein binding; methylated histone residue binding; microtubule binding; miRNA binding; mRNA 3'-UTR binding; mRNA 5'-UTR binding; mRNA binding; poly(rG) binding; poly(U) binding; protein binding; protein heterodimerization activity; protein homodimerization activity; ribosome binding; RNA binding; RNA strand annealing activity; siRNA binding; translation initiation factor binding; translation repressor activity

Biological Process: glutamate signaling pathway; mRNA transport; negative regulation of translation; negative regulation of translational initiation; positive regulation of filopodium formation; positive regulation of histone phosphorylation; positive regulation of receptor internalization; positive regulation of translation; regulation of alternative nuclear mRNA splicing, via spliceosome; regulation of filopodium formation; regulation of mRNA stability; regulation of neurotransmitter secretion; response to DNA damage stimulus

Disease: Fragile X Mental Retardation Syndrome; Fragile X Tremor/ataxia Syndrome; Premature Ovarian Failure 1