CUL7 Gene Summary [Human]
The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Details
| Type | Protein Coding |
| Official Symbol | CUL7 |
| Official Name | cullin 7 [Source:HGNC Symbol;Acc:HGNC:21024] |
| Ensembl ID | ENSG00000044090 |
| Bio databases IDs | |
| Aliases | cullin 7 |
| Synonyms | 2510004L20RIK, 3M1, C230011P08Rik, cullin 7, dJ20C7.5, KIAA0076, LOC108348250, LOC682940, p185 |
| 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 CUL7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CPH domain
- Bcl-2 homology 3 domain
- protein binding activity, bridging
- APC10-like
- Cullin protein neddylation domain
- enzyme
- protein binding
- Mouse development and cellular proliferation protein Cullin-7
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Three M syndrome
- Three M syndrome type 1
- organismal death
- growth failure
- hereditary disorder
- bleeding
- renal clear cell adenocarcinoma
- renal clear cell cancer
- dyspnea
role in cell
- phosphorylation in
- apoptosis
- expression in
- proliferation
- number
- cell death
- epithelial-mesenchymal transition
- degradation in
- morphology
- migration
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
- perinuclear region
- Nucleus
- centrosome
- Golgi Apparatus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CUL7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of mitosis
- cytokinesis after mitosis
- Golgi organization
- proteolysis
- epithelial to mesenchymal transition
- microtubule cytoskeleton organization
- vasculogenesis
- placenta development
- positive regulation of dendrite morphogenesis
- ubiquitin-dependent protein catabolic process
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- centrosome
- perinuclear region of cytoplasm
- cytoplasm
- anaphase-promoting complex
- cytosol
- Golgi apparatus
- Cul7-RING ubiquitin ligase complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- ubiquitin protein ligase binding