FBXL3

Chr 13q22.3

F-box and leucine rich repeat protein 3

Aliases:: FBL3, FBL3A
MANE:: ENST00000355619.10

OMIM: 605653 ↗NCBI: 26224 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FBXL3 · Q9UKT7

v62025-08-01

Predicted Aligned Error matrix for FBXL3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.3/ 100

Very high

428 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)10%
Low(50–70)2%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual disability, short stature, facial anomalies, and joint dislocations
0.66
Intellectual disability
0.37
short stature due to GHSR deficiency
0.37
Short stature
0.37
gastrointestinal disease
0.29
rheumatic disorder
0.07
Autosomal recessive malignant osteopetrosis
0.05
muscular dystrophy-dystroglycanopathy, type A
0.05
hemochromatosis type 2
0.05
nevoid basal cell carcinoma syndrome
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

F-box/LRR-repeat protein 3

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)