Rabbit anti-Human, mouse FMR1 Polyclonal Antibody | anti-FMR1 antibody

FMR1 Antibody (N-term)

Cat. Num. AAA9207834

• Gene Names: FMR1; POF; FMRP; POF1; FRAXA
• Reactivity: Human, mouse
• Applications: Immunohistochemistry, Western Blot, Flow Cytometry
• Purity: Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)
• Synonyms: FMR1; Polyclonal Antibody; FMR1 Antibody (N-term); Fragile X mental retardation protein 1; FMRP; Protein FMR-1; anti-FMR1 antibody

• Host: Rabbit
• Reactivity: Human, mouse
• Clonality: Polyclonal
• Isotype: Rabbit Ig
• Specificity: This FMR1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 20-48 amino acids from the N-terminal region of human FMR1.
• Purity/Purification: Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)
• Form/Format: Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.
• Sequence Positions: 20-48
• Sequence Length: 537

• Applicable Applications for anti-FMR1 antibody: IHC-P, WB, FC,E
• Application Notes: IHC~P~~1:50~100; WB~~1:1000; FC~~1:10~50
• 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 (PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849). Plays a role in the alternative splicing of its own mRNA (PubMed:18653529). Plays a role in mRNA nuclear export (By similarity). Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity). 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 (By similarity). 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 (By similarity). Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postnyaptic dendritic spines (PubMed:11532944, PubMed:11157796, PubMed:12594214, PubMed:23235829). Component of the CYFIP1-EIF4E- FMR1 complex which blocks cap-dependent mRNA translation initiation (By similarity). Represses mRNA translation by stalling ribosomal translocation during elongation (By similarity). Reports are contradictory with regards to its ability to mediate translation inhibition of MBP mRNA in oligodendrocytes (PubMed:23891804). 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 (PubMed:14703574, PubMed:17057366, PubMed:25464849). Facilitates the assembly of miRNAs on specific target mRNAs (PubMed:17057366). Plays also a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses (PubMed:19097999, PubMed:19166269). In response to mGluR stimulation, FMR1-target mRNAs are rapidly derepressed, allowing for local translation at synapses (By similarity). Binds to a large subset of dendritic mRNAs that encode a myriad of proteins involved in pre- and postsynaptic functions (PubMed:7692601, PubMed:11719189, PubMed:11157796, PubMed:12594214, PubMed:17417632, PubMed:23235829, PubMed:24448548). Binds to 5'-ACU[GU]-3' and/or 5'-[AU]GGA-3' RNA consensus sequences within mRNA targets, mainly at coding sequence (CDS) and 3'-untranslated region (UTR) and less frequently at 5'- UTR (PubMed:23235829). Binds to intramolecular G-quadruplex structures in the 5'- or 3'-UTRs of mRNA targets (PubMed:11719189, PubMed:18579868, PubMed:25464849, PubMed:25692235). Binds to G- quadruplex structures in the 3'-UTR of its own mRNA (PubMed:7692601, PubMed:11532944, PubMed:12594214, PubMed:15282548, PubMed:18653529). Binds also to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes (PubMed:15805463). Binds mRNAs containing U-rich target sequences (PubMed:12927206). Binds to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the 5'- UTR region of superoxide dismutase SOD1 mRNA (PubMed:19166269). Binds to the dendritic, small non-coding brain cytoplasmic RNA 1 (BC1); which may increase the association of the CYFIP1-EIF4E-FMR1 complex to FMR1 target mRNAs at synapses (By similarity). Associates with export factor NXF1 mRNA-containing ribonucleoprotein particles (mRNPs) in a NXF2-dependent manner (By similarity). Binds to a subset of miRNAs in the brain (PubMed:14703574, PubMed:17057366). May associate with nascent transcripts in a nuclear protein NXF1-dependent manner (PubMed:18936162). In vitro, binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:7688265, PubMed:7781595, PubMed:12950170, PubMed:15381419, PubMed:8156595). Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity (PubMed:20512134). Negatively regulates the voltage-dependent calcium channel current density in soma and presynaptic terminals of dorsal root ganglion (DRG) neurons, and hence regulates synaptic vesicle exocytosis (By similarity). Modulates the voltage-dependent calcium channel CACNA1B expression at the plasma membrane by targeting the channels for proteosomal degradation (By similarity). Plays a role in regulation of MAP1B- dependent microtubule dynamics during neuronal development (By similarity). Recently, has been shown to play a translation- independent role in the modulation of presynaptic action potential (AP) duration and neurotransmitter release via large-conductance calcium-activated potassium (BK) channels in hippocampal and cortical excitatory neurons (PubMed:25561520). Finally, FMR1 may be involved in the control of DNA damage response (DDR) mechanisms through the regulation of ATR-dependent signaling pathways such as histone H2AFX/H2A.x and BRCA1 phosphorylations (PubMed:24813610).
• Cellular location: Nucleus Nucleus, nucleolus. Chromosome, centromere {ECO:0000250|UniProtKB:P35922}. Chromosome {ECO:0000250|UniProtKB:P35922}. Cytoplasm Cytoplasm, perinuclear region Cytoplasmic granule Perikaryon. Cell projection. Cell projection, axon {ECO:0000250|UniProtKB:P35922}. Cell projection, dendrite {ECO:0000250|UniProtKB:P35922}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P35922}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:P35922}. Cell projection, growth cone. Cell projection, filopodium tip {ECO:0000250|UniProtKB:P35922}. Cell junction, synapse {ECO:0000250|UniProtKB:P35922}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:P35922}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:P35922}. Cell membrane {ECO:0000250|UniProtKB:P35922}. Note=Colocalizes with H2AFX/H2A.x in pericentromeric heterochromatin in response to DNA damaging agents (By similarity). Localizes on meiotic pachytene- stage chromosomes (By similarity). Forms nuclear foci representing sites of ongoing DNA replication in response to DNA damaging agents (By similarity). Shuttles between nucleus and cytoplasm in a XPO1/CRM1-dependent manner (PubMed:10196376). Localizes to cytoplasmic granules, also referred to as messenger ribonucleoprotein particles or mRNPs, along dendrites and dendritic spines (PubMed:9659908, PubMed:14532325). FMR1- containing cytoplasmic granules colocalize to F-actin-rich structures, including filopodium, spines and growth cone during the development of hippocampal neurons (By similarity). FMR1- containing cytoplasmic granules are transported out of the soma along axon and dendrite to synaptic contacts in a microtubule- and kinesin-dependent manner (PubMed:12417734, PubMed:15380484) Colocalizes with CACNA1B in the cytoplasm and at the cell membrane of neurons (By similarity). Colocalizes with CYFIP1, CYFIP2, NXF2 and ribosomes in the perinuclear region (By similarity) Colocalizes with CYFIP1 and EIF4E in dendrites and probably at synapses (By similarity). Colocalizes with FXR1, kinesin, 60S acidic ribosomal protein RPLP0 and SMN in cytoplasmic granules in the soma and neurite cell processes (PubMed:12417734, PubMed:18093976, PubMed:16636078). Colocalizes with FXR1 and FXR2 in discrete granules, called fragile X granules (FXGs), along axon and presynaptic compartments (By similarity). Colocalizes with TDRD3 in cytoplasmic stress granules (SGs) in response to various cellular stress (PubMed:18632687, PubMed:18664458, PubMed:16636078). {ECO:0000250|UniProtKB:P35922, ECO:0000250|UniProtKB:Q80WE1, ECO:0000269|PubMed:10196376, ECO:0000269|PubMed:12417734, ECO:0000269|PubMed:14532325, ECO:0000269|PubMed:15380484, ECO:0000269|PubMed:16636078, ECO:0000269|PubMed:18093976, ECO:0000269|PubMed:18632687, ECO:0000269|PubMed:18664458, ECO:0000269|PubMed:9659908} Isoform 9: Cytoplasm Isoform 11: Nucleus. Nucleus, Cajal body
• Preparation and Storage: Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.

Immunohistochemistry (IHC)

(Formalin-fixed and paraffin-embedded human brain tissue reacted with FMR1 Antibody (N-term), which was peroxidase-conjugated to the secondary antibody, followed by DAB staining. This data demonstrates the use of this antibody for immunohistochemistry; clinical relevance has not been evaluated.)

Western Blot (WB)

(Western blot analysis of FMR1 Antibody (N-term)MBS9207834 in mouse lung tissue lysates (35ug/lane). FMR1 (arrow) was detected using the purified Pab.)

Flow Cytometry (FC/FACS)

(FMR1 Antibody (N-term) flow cytometric analysis of NCI-H460 cells (right histogram) compared to a negative control cell (left histogram).FITC-conjugated goat-anti-rabbit secondary antibodies were used for the analysis.)

Related Product Information for anti-FMR1 antibody

FMR1 binds RNA and is associated with polysomes. This protein may be involved in mRNA trafficking from the nucleus to the cytoplasm.

Product Categories/Family for anti-FMR1 antibody

Neuroscience

References

Yuhas,J., et.al., Genet Test Mol Biomarkers 13 (6), 855-859 (2009)

NCBI and Uniprot Product Information

• NCBI GI #: 297374777
• NCBI GeneID: 2332
• NCBI Accession #: NP_001172004.1; NP_001172005.1; NP_001172010.1; NP_001172011.1; NP_002015.1
• NCBI GenBank Nucleotide #: NM_001185075.1
• UniProt Accession #: Q06787; Q16578; Q5PQZ6; Q99054; A6NNH4; D3DWT0; D3DWT1; D3DWT2; G8JL90
• NCBI Official Full Name: fragile X mental retardation protein 1 isoform ISO6
• NCBI Official Synonym Full Names: fragile X mental retardation 1
• NCBI Official Symbol: FMR1
• NCBI Official Synonym Symbols: POF; FMRP; POF1; FRAXA
• NCBI Protein Information: fragile X mental retardation protein 1
• UniProt Protein Name: Fragile X mental retardation protein 1
• Protein Family: Mat- sexual cell fertilization-promoting factor
• UniProt Gene Name: FMR1
• UniProt Synonym Gene Names: FMRP; Protein FMR-1
• UniProt Entry Name: FMR1_HUMAN

NCBI Description

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]

Uniprot Description

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; Translation; RNA-binding

Chromosomal Location of Human Ortholog: Xq27.3

Cellular Component: nucleoplasm; mRNA cap complex; polysomal ribosome; microtubule; membrane; stress granule; cytoplasm; dendritic spine; nucleolus; synapse; dendritic shaft

Molecular Function: mRNA binding; protein binding; RNA binding; microtubule binding

Biological Process: negative regulation of translational initiation; central nervous system development; mRNA transport; negative regulation of translation

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