FXR1

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Full Name
FMR1 Autosomal Homolog 1
Function
RNA-binding protein required for embryonic and postnatal development of muscle tissue (PubMed:30770808).

May regulate intracellular transport and local translation of certain mRNAs (By similarity).
Biological Process
Apoptotic process Source: ProtInc
Cell differentiation Source: UniProtKB-KW
Muscle organ development Source: UniProtKB
Negative regulation of translation Source: GO_Central
Positive regulation of gene silencing by miRNA Source: UniProtKB
Positive regulation of protein phosphorylation Source: GO_Central
Positive regulation of response to DNA damage stimulus Source: GO_Central
Positive regulation of translation Source: GO_Central
Regulation of alternative mRNA splicing, via spliceosome Source: GO_Central
Regulation of filopodium assembly Source: GO_Central
Regulation of mRNA stability Source: GO_Central
Skeletal muscle organ development Source: UniProtKB
Cellular Location
Cytosol. Adjacent to Z-lines in muscles.
Involvement in disease
Myopathy, congenital, with respiratory insufficiency and bone fractures (MYORIBF):
An autosomal recessive muscular disorder characterized by severe hypotonia apparent at birth, poor feeding, ulnar deviation of the hands, laterally deviated feet, fractures of the long bones, respiratory insufficiency due to muscle weakness, and death in infancy.
Myopathy, congenital proximal, with minicore lesions (MYOPMIL):
An autosomal recessive, slowly progressive muscular disorder characterized by primarily proximal muscle weakness, neonatal hypotonia leading to delayed motor development, mildly delayed walking in childhood, and difficulty running or climbing. Cardiac function is unaffected, but most patients have obstructive sleep apnea. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and minicores that disrupt the myofibrillar striation pattern.
PTM
Arg-445 is dimethylated, probably to asymmetric dimethylarginine.
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Anti-FXR1 antibodies

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Mouse Anti-FXR1 Monoclonal Antibody (2G11) (CBMAB-1294-YC)

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Target: FXR1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 2G11
Application*: E, P, WB
Datasheet SDS

Mouse Anti-FXR1 Recombinant Antibody (2G11) (V2LY-1225-LY326)

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Target: FXR1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: 2G11
Application*: WB, E, IH
Datasheet SDS

Mouse Anti-FXR1 Recombinant Antibody (2B12) (CBMAB-XB0483-YC)

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Target: FXR1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: 2B12
Application*: WB, IP, IF, E
Datasheet SDS

Rabbit Anti-FXR1 Recombinant Antibody (CBXF-1813) (CBMAB-F3348-CQ)

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Target: FXR1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBXF-1813
Application*: WB, IF, IH
Datasheet SDS

Mouse Anti-FXR1 Recombinant Antibody (CBXF-2085) (CBMAB-F2023-CQ)

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Target: FXR1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Mouse
Clone: CBXF-2085
Application*: WB, P, IP, E
Datasheet SDS

Mouse Anti-FXR1 Recombinant Antibody (CBXF-2545) (CBMAB-F1361-CQ)

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Target: FXR1
Host: Mouse
Antibody Isotype: IgG3, κ
Specificity: Human, Mouse, Rat
Clone: CBXF-2545
Application*: WB, IP, IF, E
Datasheet SDS

Rabbit Anti-FXR1 Recombinant Antibody (CBXF-1254) (CBMAB-F0998-CQ)

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Target: FXR1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBXF-1254
Application*: WB, IF, IH, F
Datasheet SDS

Mouse Anti-FXR1 Recombinant Antibody (CBXF-0967) (CBMAB-F0997-CQ)

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Target: FXR1
Host: Mouse
Antibody Isotype: IgG3, κ
Specificity: Human, Mouse, Rat
Clone: CBXF-0967
Application*: WB, IP, IF, E
Datasheet SDS

Mouse Anti-FXR1 Recombinant Antibody (CBXF-0966) (CBMAB-F0313-CQ)

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Target: FXR1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBXF-0966
Application*: WB, IF, P
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IGImmunochromatography
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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