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FUS

This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]
Full Name
FUS RNA Binding Protein
Function
DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383).

Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092).

Binds also its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307).

Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410).

In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity).
Biological Process
Cellular response to calcium ion Source: Ensembl
mRNA stabilization Source: MGI
Positive regulation of double-strand break repair via homologous recombination Source: UniProtKB
Protein homooligomerization Source: UniProtKB
Regulation of RNA splicing Source: UniProtKB
Regulation of transcription, DNA-templated Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: UniProtKB
RNA splicing Source: UniProtKB
Cellular Location
Nucleus. Displays a punctate pattern inside the nucleus and is excluded from nucleoli.
Involvement in disease
A chromosomal aberration involving FUS is found in a patient with malignant myxoid liposarcoma. Translocation t(12;16)(q13;p11) with DDIT3.
A chromosomal aberration involving FUS is a cause of acute myeloid leukemia (AML). Translocation t(16;21)(p11;q22) with ERG.
Angiomatoid fibrous histiocytoma (AFH):
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving FUS is found in a patient with angiomatoid fibrous histiocytoma. Translocation t(12;16)(q13;p11.2) with ATF1 generates a chimeric FUS/ATF1 protein. A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis.
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6):
A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Tremor, hereditary essential 4 (ETM4):
A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant.
PTM
Arg-216 and Arg-218 are dimethylated, probably to asymmetric dimethylarginine.
Phosphorylated in its N-terminal serine residues upon induced DNA damage. ATM and DNA-PK are able to phosphorylate FUS N-terminal region.

Anti-FUS antibodies

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Target: FUS
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 1FU-1D2
Application*: IF, IC, WB
Target: FUS
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 11E11
Application*: E, M
Target: FUS
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Rat
Clone: CBYJT-1287
Application*: WB, IF
Target: FUS
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJT-1285
Application*: WB, P
Target: FUS
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBXF-1221
Application*: WB, P, F, IF
Target: FUS
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: CBXF-0958
Application*: E, WB, IF, IH, IP
Target: FUS
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-2467
Application*: WB, IH, IF, P
Target: FUS
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Mouse
Clone: CBXF-2364
Application*: IC, P, IP, WB
Target: FUS
Host: Mouse
Antibody Isotype: IgG1
Specificity: Fruit fly, Human, Mouse
Clone: CBXF-2540
Application*: IR, E, IF, IH, IP, WB
Target: FUS
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBXF-2263
Application*: IF, WB
Target: FUS
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: 246
Application*: ELISA, IF, IHC, WB
Target: FUS
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: CF175
Application*: ELISA, WB, IF, IHC, IP
Target: FUS
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: CBR023E
Application*: WB, IP, IHC, IHC-IF, ICC-IF
Target: FUS
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBHb295
Application*: IF, IP, WB
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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