FBH1 Gene Summary [Human]
This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | FBH1 |
| Official Name | F-box DNA helicase 1 [Source:HGNC Symbol;Acc:HGNC:13620] |
| Ensembl ID | ENSG00000134452 |
| Bio databases IDs | |
| Aliases | F-box DNA helicase 1 |
| Synonyms | F-box DNA helicase 1, Fbx18, FBXO18, hFBH1 |
| 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 FBH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- UvrD/REP helicase N-terminal domain
- F-box domain superfamily
- enzyme
- protein binding
- DNA helicase
- F-box domain
- DNA translocase
- single-stranded DNA binding
- double-stranded DNA binding
- F-box-like
- N-terminal helicase domain of the DEAD-box helicase superfamily
- UvrD-like helicase C-terminal domain
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- idiopathic scoliosis
- acute myeloid leukemia
- infection by HIV-1
role in cell
- phosphorylation in
- activation in
- survival
- accumulation in
- production in
- formation
- G1/S phase transition
- binding
- formation in
- breakage 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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FBH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA catabolic process
- DNA repair
- negative regulation of double-strand break repair via homologous recombination
- DNA duplex unwinding
- positive regulation of protein phosphorylation
- double-strand break repair via homologous recombination
- replication fork processing
- response to DNA damage stimulus
- response to intra-S DNA damage checkpoint signal
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- SCF ubiquitin ligase complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA helicase activity
- protein binding
- double-stranded DNA binding
- DNA translocase activity
- 3'-5' DNA helicase activity
- single-stranded DNA binding
- isomerase activity