FBXL4 Gene Summary [Human]
This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | FBXL4 |
| Official Name | F-box and leucine rich repeat protein 4 [Source:HGNC Symbol;Acc:HGNC:13601] |
| Ensembl ID | ENSG00000112234 |
| Bio databases IDs | |
| Aliases | F-box and leucine rich repeat protein 4 |
| Synonyms | AI836810, FBL4, FBL5, F-box and leucine-rich repeat protein 4, MTDPS13 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FBXL4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- F-box domain
- protein phosphatase 1 regulatory subunit 42
- F-box domain superfamily
- Leucine-rich repeat - CC (cysteine-containing) subfamily
- F-box-like
- protein binding activity, bridging
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Moyamoya disease
- mitochondrial DNA depletion syndrome 13
- hereditary disorder
- motor dysfunction or movement disorder
- Leigh syndrome
- kyphosis
- mitochondrial DNA depletion syndrome
role in cell
- expression in
- binding in
- ubiquitination in
- mitophagy in
- destabilization in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- outer membranes
- Mitochondria
- cytosol
- mitochondrial intermembrane space
- mitochondrial outer membrane
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FBXL4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
- mitochondrion degradation
- ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial intermembrane space
- ubiquitin ligase complex
- nuclear speck
- cytosol
- SCF ubiquitin ligase complex
Molecular Function
What the gene product does at the molecular level
- protein binding