FBXW5
Description
The FBXW5 (F-box and WD repeat domain containing 5) is a protein-coding gene located on chromosome 9.
FBXW5 is a human gene that encodes a protein belonging to the F-box protein family. These proteins are characterized by an F-box motif, which is involved in ubiquitin protein ligase complex formation. FBXW5 contains WD-40 domains, placing it within the Fbw class of F-box proteins. It forms part of the SCF (SKP1-cullin-F-box) complex, which mediates phosphorylation-dependent ubiquitination. Multiple transcript variants have been identified, but they are considered nonsense-mediated Messenger RNA decay candidates and are not expressed.
FBXW5 acts as a substrate recognition component in both SCF (SKP1-CUL1-F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Within the SCF(FBXW5) complex, it mediates the ubiquitination and subsequent proteasomal degradation of SASS6 during S phase, preventing centriole reduplication. Additionally, the SCF(FBXW5) complex ubiquitinates and degrades the actin-regulator EPS8 during G2 phase, resulting in transient EPS8 degradation and cell shape changes necessary for mitotic progression. As a substrate-specific adapter in the DCX(FBXW5) complex, FBXW5 promotes the polyubiquitination and subsequent degradation of TSC2. Moreover, it may act as a negative regulator of MAP3K7/TAK1 signaling in the interleukin-1B (IL1B) signaling pathway.
FBXW5 is also known as Fbw5.
Associated Diseases
- endometrial cancer
- urinary bladder cancer
- dilated cardiomyopathy 1I
- atrial fibrillation, familial, 10
- arrhythmogenic right ventricular dysplasia, familial, 14
- hypertrophic cardiomyopathy 4
- arterial calcification, generalized, of infancy, 2
- ATTRV122I amyloidosis
