FBXO38 Gene Summary [Human]
This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Details
| Type | Protein Coding |
| Official Symbol | FBXO38 |
| Official Name | F-box protein 38 [Source:HGNC Symbol;Acc:HGNC:28844] |
| Ensembl ID | ENSG00000145868 |
| Bio databases IDs | |
| Aliases | F-box protein 38 |
| Synonyms | 6030410I24RIK, F-box protein 38, Fbx38, FLJ13962, HMN2D, HMND6, MOKA, SP329 |
| 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 FBXO38 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
- F-box domain superfamily
- 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
- neoplasia
- liver cancer
- epithelial cancer
- periodontitis
- hepatocellular carcinoma
- tumor
- Charcot-Marie-Tooth disease
- chronic obstructive pulmonary disease
- distal hereditary motor neuronopathy type IID
- distal hereditary motor neuropathy type 2
role in cell
- activation
- degradation in
- development
- K48 polyubiquitination 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.
- Cytoplasm
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FBXO38 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of T cell activation
- positive regulation of T cell mediated immune response to tumor cell
- protein K48-linked ubiquitination
- SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
- adaptive immune response
- positive regulation of neuron projection development
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- SCF ubiquitin ligase complex
Molecular Function
What the gene product does at the molecular level
- protein binding