Homo sapiens Protein: FUS | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-27921.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | FUS | ||||||||||||||||||||||
Protein Name | fused in sarcoma | ||||||||||||||||||||||
Synonyms | ALS6; ETM4; FUS1; HNRNPP2; POMP75; TLS; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000369594 | ||||||||||||||||||||||
InnateDB Gene | IDBG-27917 (FUS) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of complementary single- stranded DNAs and D-loop formation in superhelical double-stranded DNA. May play a role in maintenance of genomic integrity. | ||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000269PubMed:19251627, ECO:0000269PubMed:19251628}. | ||||||||||||||||||||||
Disease Associations | Note=A chromosomal aberration involving FUS is found in a patient with malignant myxoid liposarcoma. Translocation t(12;16)(q13;p11) with DDIT3.Note=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) [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. Note=The disease may be caused by mutations affecting the gene represented in this entry. 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 (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:0000269PubMed:19251627, ECO:0000269PubMed:19251628, ECO:0000269PubMed:19861302, ECO:0000269PubMed:20124201}. Note=The disease is caused by mutations affecting the gene represented in this entry.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 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. {ECO:0000269PubMed:22863194}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Ubiquitous. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 319 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000504
RNA recognition motif domain IPR001876 Zinc finger, RanBP2-type |
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PFAM |
PF00076
PF00641 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00360
SM00547 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P35637 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P35637 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 2521 | ||||||||||||||||||||||
UniGene | Hs.724154 | ||||||||||||||||||||||
RefSeq | NP_001164105 | ||||||||||||||||||||||
HUGO | HGNC:4010 | ||||||||||||||||||||||
OMIM | 137070 | ||||||||||||||||||||||
CCDS | CCDS58454 | ||||||||||||||||||||||
HPRD | 00660 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC009088 AF071213 AJ295163 BC000402 BC002459 S62138 S62140 X71427 X71428 | ||||||||||||||||||||||
GenPept | AAB27102 AAB27103 AAC35284 AAC35285 AAH00402 AAH02459 CAA50558 CAA50559 CAC15058 | ||||||||||||||||||||||