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RNA-binding protein FUS; proto-oncogene protein FUS; proto-oncogene protein TLS; translocated in liposarcoma protein; POMp75; 75 kD DNA-pairing protein (FUS, TLS)
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: nucleus
Alternative splicing: named isoforms=2; long, short
Expression: ubiquitous
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]
Related
FUS gene mutation
FUS/TLS gene
General
nuclear protein
proto oncogene protein
RNA-binding protein
zinc finger protein
Properties
SIZE: entity length = 526 aa
MW = 53 kD
COMPARTMENT: cell nucleus
MOTIF: glycine-rich region {166-267}
MOTIF: breakpoint {175}
breakpoint {266-267}
RNP motif
NAME: RNP motif
SITE: 285-371
FOR-BINDING-OF: ribonucleic acid
MOTIF: ribonucleoprotein-1 motif
NAME: ribonucleoprotein-1 motif
FOR-BINDING-OF: ribonucleic acid
MOTIF: ribonucleoprotein-1 motif
ribonucleoprotein-2 motif
ribonucleoprotein-2 motif
FOR-BINDING-OF: ribonucleic acid
MOTIF: ribonucleoprotein-1 motif
ribonucleoprotein-2 motif
glycine-rich region {371-526}
MOTIF: Zinc finger
NAME: Zinc finger
SITE: 422-453
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM correlations
MORBIDMAP 137070
UniProt P35637
PFAM correlations
Entrez Gene 2521
Kegg hsa:2521
References
- UniProt :accession P35637
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/FUSID44.html
- Medical Knowledge Self Assessment Program (MKSAP) 17,
American College of Physicians, Philadelphia 2015