FBXO4
Description
The FBXO4 (F-box protein 4) is a protein-coding gene located on chromosome 5.
FBXO4 is a gene that encodes a protein belonging to the F-box protein family. F-box proteins are characterized by an F-box motif and are part of the SCF (SKP1-cullin-F-box) ubiquitin ligase complex, which functions in phosphorylation-dependent ubiquitination. FBXO4 is classified as an Fbxs protein and is involved in the ubiquitination of target proteins, leading to their degradation by the proteasome. The gene produces two transcript variants through alternative splicing.
FBXO4 is a substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex. It mediates the ubiquitination and subsequent proteasomal degradation of target proteins, including CCND1, TERF1, and FXR1. FBXO4 promotes ubiquitination of CCND1, leading to its degradation by the proteasome. It recognizes TERF1 and promotes its ubiquitination together with UBE2D1. Following phosphorylation of FXR1 by GSK3B, FBXO4 promotes ubiquitination of FXR1, leading to its degradation by the proteasome.
FBXO4 is also known as FBX4.
Associated Diseases
- endometrial cancer
- urinary bladder cancer
- Li-Fraumeni syndrome
- attenuated familial adenomatous polyposis
- myofibromatosis, infantile, 1
- familial atypical multiple mole melanoma syndrome
- hyperplastic polyposis syndrome
- gastric adenocarcinoma and proximal polyposis of the stomach
- Lynch syndrome
- hereditary leiomyomatosis and renal cell cancer
