RNA-binding protein FUS; proto-oncogene protein FUS; proto-oncogene protein TLS; translocated in liposarcoma protein; POMp75; 75 kD DNA-pairing protein (FUS, TLS)
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Function
- binds both single-stranded & double-stranded DNA
- promotes ATP-independent annealing of complementary single-stranded DNAs & D-loop formation in superhelical double-stranded DNA
- may play a role in maintenance of genomic integrity
- component of nuclear riboprotein complexes
- interacts with ILF3, TDRD3 & SF1
- interacts through its C-terminus with FUSIP1
- interacts with SARNP
Structure
- Arg-216 & Arg-218 are dimethylated, probably to asymmetric dimethylarginine
- belongs to the RRM TET family
- contains 1 RanBP2-type Zn+2 finger
- contains 1 RRM domain (RNA recognition motif)
Compartment
Alternative splicing
named isoforms=2; long, short
Expression
Pathology
- chromosomal translocation t(12;16)(q13;p11) involving FUS with DDIT3 is a cause of a form of malignant myxoid liposarcoma
- chromosomal translocation t(16;21)(p11;q22) involving FUS with ERG is a cause of acute myeloid leukemia (AML)
- chromosomal translocation t(12;16)(q13;p11.2) involving FUS with ATF1 is associated with angiomatoid fibrous histiocytoma; translocation generates a chimeric FUS/ATF1 protein
- defects in FUS are the cause of amyotrophic lateral sclerosis type 6
- FUS deposits in the brain of some patients with frontotemporal dementia (FTD)[3]
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P35637.html
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/FUSID44.html
- ↑ 3.0 3.1 Medical Knowledge Self Assessment Program (MKSAP) 17, American College of Physicians, Philadelphia 2015
Database
- UniProt: http://www.uniprot.org/uniprot/P35637.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2521
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2521
- OMIM: https://mirror.omim.org/entry/137070
- OMIM: https://mirror.omim.org/entry/608030
- OMIM: https://mirror.omim.org/entry/612160
- OMIM: https://mirror.omim.org/entry/151900