FUS
GeneName
FUS
Summary
FUS, also known as EF G, TLS, or elongation factor G, is a 53 kDa nuclear protein that plays a crucial role in various RNA-related processes. It is localised in the nucleus and nucleoplasm, and is involved in chromatin binding, DNA binding, and RNA binding. FUS functions as a transcription coactivator and coregulator, influencing the regulation of transcription by RNA polymerase II. Additionally, it is implicated in mRNA stabilization and splicing, and participates in the assembly of membraneless organelles. The protein is associated with synaptic functions in both GABA-ergic and glutamatergic synapses, highlighting its role in neuronal activity and communication.
Importance
FUS is relevant to: - Neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, due to its involvement in RNA metabolism and stress granule dynamics. - Cancer research, as it plays a role in transcription regulation and may contribute to oncogenic processes when mutated. - The study of RNA splicing mechanisms and their dysregulation in various disorders, given its function in mRNA processing. - Understanding the formation of amyloid fibrils, which has implications in protein misfolding diseases.
Top Products
For researchers investigating FUS, we recommend two excellent primary antibodies that cater to different experimental needs. The first is the well-cited polyclonal antibody, Anti-TLS/FUS antibody (ab84078), which is particularly effective for immunohistochemistry (IHC) and has garnered 19 citations, reflecting its reliability in the field. In addition, we offer the recombinant antibody, Anti-TLS/FUS antibody [EPR5812] (ab124923). This highly regarded monoclonal antibody has been validated in knockout models and is suitable for a broader range of applications, including Western blotting (WB), immunocytochemistry (ICC), and IHC. With 27 citations, it demonstrates strong performance and is ideal for researchers seeking the consistency and specificity that recombinant antibodies provide.
Abcam Product Citation Summary
The data indicates that FUS is being extensively studied in various contexts, particularly in human HeLa cells and mouse models related to ALS. The use of multiple applications such as Western blotting, immunofluorescence, and immunoprecipitation highlights the importance of FUS in cellular processes and its potential implications in neurodegenerative diseases.
Abcam Product Citation Table
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 ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). 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). Also binds 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).
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
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.
None
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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 may also 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
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.
Sequence Similarities
Belongs to the RRM TET family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Nucleus
- Displays a punctate pattern inside the nucleus and is excluded from nucleoli.
Alternative names
TLS, FUS, RNA-binding protein FUS, 75 kDa DNA-pairing protein, Oncogene FUS, Oncogene TLS, POMp75, Translocated in liposarcoma protein
Database links
swissprot:P35637 omim:137070 entrezGene:2521
Other research areas
- Epigenetics