The characteristics of FBXO7 and its role in human diseases

Yeling Zhong1, Jinyun Li1, Meng Ye1

  • 1The Affiliated Hospital of Medical School, Ningbo University, Ningbo 315020, China; Department of Biochemistry and Molecular Biology, and Zhejiang Key Laboratory of Pathphysiology, Medical School of Ningbo University, Ningbo 315211, China.

Gene
|October 19, 2022
PubMed

Insights

F-box protein 7 (FBXO7) functions as an E3 ligase and in other cellular roles. This review details FBXO7 substrates, its role in cancer, and newly identified mutations linked to Parkinson disease-15 (PARKIN15).

Area of Science:

  • Molecular Biology
  • Cell Biology
  • Genetics

Background:

  • E3 ligases regulate cellular processes; dysfunction causes disease.
  • F-box protein 7 (FBXO7) is part of the SCFFBXO7 E3 ligase complex.
  • FBXO7 also regulates mitophagy, cell cycle, proliferation, and germ cell differentiation.

Purpose of the Study:

  • To summarize FBXO7 substrates and its SCF-independent functions.
  • To review FBXO7's role in human cancers.
  • To explore FBXO7 mutations in Parkinson disease-15 (PARKIN15) and potential pathogenic mechanisms.

Main Methods:

  • Literature review and synthesis of existing studies.
  • Analysis of FBXO7's role as an E3 ligase and its SCF-independent functions.
  • Compilation of data on FBXO7 mutations in PARKIN15 patients.

Main Results:

  • FBXO7 recognizes various substrates and influences key cellular pathways.
  • FBXO7 is implicated in the pathogenesis of several human cancers.
  • New FBXO7 mutations are identified in PARKIN15, suggesting novel disease mechanisms.

Conclusions:

  • Understanding FBXO7's diverse roles is crucial for disease pathology.
  • FBXO7's involvement in cancer and neurodegeneration offers therapeutic targets.
  • Further research into FBXO7 mechanisms may guide treatments for PARKIN15 and cancers.

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.8K
Protein Complexes with Interchangeable Parts01:57

Protein Complexes with Interchangeable Parts

Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order...
2.6K
Pedigree Analysis01:35

Pedigree Analysis

Overview
84.8K
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.6K
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.7K
NF-κB-dependent Signaling Pathway02:26

NF-κB-dependent Signaling Pathway

The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
The...
7.8K