CRBN Gene Summary [Human]
This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | CRBN |
| Official Name | cereblon [Source:HGNC Symbol;Acc:HGNC:30185] |
| Ensembl ID | ENSG00000113851 |
| Bio databases IDs | |
| Aliases | cereblon |
| Synonyms | 2610203G15Rik, 2900045O07RIK, AF229032, cereblon, MRT2, MRT2A, piL |
| 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 CRBN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP-dependent protease La (LON) substrate-binding domain
- RLR_C_like
- ion channel binding
- enzyme
- protein binding
- thalidomide-binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- metastasis
- cancer
- acute myeloid leukemia
- myelodysplastic syndrome
- obesity
- chronic myelomonocytic leukemia
- dextran sodium sulfate-induced colitis
- progressive multiple myeloma
- relapsed multiple myeloma
regulated by
- lenalidomide
- LG100754
- thalidomide
- AGN194204
- bexarotene
- HCASMC cells
- 26S proteasome
- 5-azacytidine
- BRD2
- pomalidomide
role in cell
- cell death
- production in
- expression in
- phosphorylation in
- cell viability
- activation in
- translation in
- glycolysis in
- degradation in
- quantity
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CRBN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- proteasomal ubiquitin-dependent protein catabolic process
- locomotory exploration behavior
- negative regulation of protein complex assembly
- positive regulation of Wnt receptor signaling pathway
- positive regulation of protein complex assembly
- negative regulation of ion transmembrane transport
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- membrane
- Cul4A-RING ubiquitin ligase complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- ion channel binding