FBXL3
Function
Substrate-recognition component of the SCF(FBXL3) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation (PubMed:17463251, PubMed:23452855, PubMed:27565346). The SCF(FBXL3) complex mainly acts in the nucleus and mediates ubiquitination and subsequent degradation of CRY1 and CRY2 (PubMed:17463251, PubMed:23452855, PubMed:27565346). Activity of the SCF(FBXL3) complex is counteracted by the SCF(FBXL21) complex (PubMed:23452855).
Involvement in disease
Intellectual developmental disorder with short stature, facial anomalies, and speech defects
IDDSFAS
An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, delayed or slurred speech, and short stature. Dysmorphic features included a large bulbous nose and variable microretrognathia. Some patients show joint hyperlaxity and dislocations.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Post-translational modifications
Undergoes autophagy-mediated degradation in the liver in a time-dependent manner.
Tissue Specificity
Widely expressed.
Cellular localization
- Nucleus
- Cytoplasm
- Predominantly nuclear.
Alternative names
FBL3A, FBXL3A, FBXL3, F-box/LRR-repeat protein 3, F-box and leucine-rich repeat protein 3A, F-box/LRR-repeat protein 3A