FBXL3 gene

F-box and leucine rich repeat protein 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]

From UniProt:

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).

From NCBI Gene:

  • Mental retardation, short stature, facial anomalies, and joint dislocations

From UniProt:

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. [MIM:606220]

Cytogenetic Location: 13q22.3, which is the long (q) arm of chromosome 13 at position 22.3

Molecular Location: base pairs 76,992,597 to 77,027,164 on chromosome 13 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 13q22.3, which is the long (q) arm of chromosome 13 at position 22.3
  • FBL3
  • FBL3A
  • FBXL3A
  • IDDSFAS