FUS
entrez
2521
canonical
uniprot
P35637
canonical
ensembl
ENSG00000089280
resolver
ensp
ENSP00000254108
resolver
ensp
ENSP00000369594
resolver
ensp
ENSP00000520462
resolver
ensp
ENSP00000545082
resolver
ensp
ENSP00000545092
resolver
ensp
ENSP00000618678
resolver
enst
ENST00000715542
resolver
genesymbol
FUS
resolver
genesymbol_syn
TLS
resolver
hgnc
HGNC:4010
resolver
uniprot
A0AAQ5BIG2
resolver
uniprot
Q13344
resolver
uniprot
Q6IBQ5
resolver
uniprot
Q9H4A8
resolver
uniprot_entry
A0AAQ5BIG2_HUMAN
resolver
uniprot_entry
FUS_HUMAN
resolver
uniprot_entry
Q13344_HUMAN
resolver
uniprot_entry
Q6IBQ5_HUMAN
resolver
uniprot_sec
Q9H4A8
resolver
amino_acid_sequence
MASNDYTQQATQSYGAYPTQPGQGYSQQSSQPYGQQSYSGYSQSTDTSGYGQSSYSSYGQSQNTGYGTQSTPQGYGSTGGYGSSQSSQSSYGQQSSYPGYGQQPAPSSTSGSYGSSSQSSSYGQPQSGSYSQQPSYGGQQQSYGQQQSYNPPQGYGQQNQYNSSSGGGGGGGGGGNYGQDQSSMSSGGGSGGGYGNQDQSGGGGSGGYGQQDRGGRGRGGSGGGGGGGGGGYNRSSGGYEPRGRGGGRGGRGGMGGSDRGGFNKFGGPRDQGSRHDSEQDNSDNNTIFVQGLGENVTIESVADYFKQIGIIKTNKKTGQPMINLYTDRETGKLKGEATVSFDDPPSAKAAIDWFDGKEFSGNPIKVSFATRRADFNRGGGNGRGGRGRGGPMGRGGYGGGGSGGGGRGGFPSGGGGGGGQQRAGDWKCPNPTCENMNFSWRNECNQCKAPKPDGPGGGPGGSHMGGNYGDDRRGGRGGYDRGGYRGRGGDRGGFRGGRGGGDRGGFGPGKMDSRGEHRQDRRERPY
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving FUS is found in a patient with malignant myxoid liposarcoma. Translocation t(12;16)(q13;p11) with DDIT3. {ECO:0000269|PubMed:7503811}.; DISEASE: Note=A chromosomal aberration involving FUS is a cause of acute myeloid leukemia (AML). Translocation t(16;21)(p11;q22) with ERG. {ECO:0000269|PubMed:8187069}.; DISEASE: Angiomatoid fibrous histiocytoma (AFH) [MIM:612160]: 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. {ECO:0000269|PubMed:11063792}. Note=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. {ECO:0000269|PubMed:11063792}.; DISEASE: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030]: 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. {ECO:0000269|PubMed:19251627, ECO:0000269|PubMed:19251628, ECO:0000269|PubMed:19861302, ECO:0000269|PubMed:20124201, ECO:0000269|PubMed:27604643}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Tremor, hereditary essential 4 (ETM4) [MIM:614782]: 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. {ECO:0000269|PubMed:22863194}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:P56959, ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:21256132, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:26124092, ECO:0000269|PubMed:27731383}.
uniprot
proteins
mass_dalton
53426
uniprot
proteins
post_translational_modification
PTM: Arg-216 and Arg-218 are dimethylated, probably to asymmetric dimethylarginine.; PTM: Phosphorylated in its N-terminal serine residues upon induced DNA damage. ATM and DNA-PK are able to phosphorylate FUS N-terminal region. {ECO:0000269|PubMed:18620545, ECO:0000269|PubMed:29897835}.
uniprot
proteins
protein_family
RRM TET family
uniprot
proteins
pubmed
10442642
uniprot
proteins
pubmed
10567410
uniprot
proteins
pubmed
11063792
uniprot
proteins
pubmed
12964758
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17196963
uniprot
proteins
pubmed
18620545
uniprot
proteins
pubmed
18632687
uniprot
proteins
pubmed
19251627
uniprot
proteins
pubmed
19251628
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19861302
uniprot
proteins
pubmed
20124201
uniprot
proteins
pubmed
21256132
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22863194
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24204307
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25453086
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26124092
uniprot
proteins
pubmed
27604643
uniprot
proteins
pubmed
27615052
uniprot
proteins
pubmed
27731383
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29897835
uniprot
proteins
pubmed
30354839
uniprot
proteins
pubmed
7503811
uniprot
proteins
pubmed
8187069
uniprot
proteins
pubmed
8510758
uniprot
proteins
pubmed
9660765
uniprot
proteins
pubmed
9774382
uniprot
proteins
pubmed
9795213
uniprot
proteins
sequence_length
526
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19251627, ECO:0000269|PubMed:19251628, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:25453086, ECO:0000269|PubMed:30354839}. Note=Displays a punctate pattern inside the nucleus and is excluded from nucleoli. {ECO:0000269|PubMed:25453086}.
uniprot
proteins