CUBN Gene Summary [Human]
Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CUBN |
| Official Name | cubilin [Source:HGNC Symbol;Acc:HGNC:2548] |
| Ensembl ID | ENSG00000107611 |
| Bio databases IDs | |
| Aliases | cubilin, intrinsic factor-cobalamin receptor |
| Synonyms | cubilin, CUBULIN, D2Wsu88e, GP280, IFCR, IGS, IGS1, intrinsic factor-cobalamin receptor, MGA1 |
| 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 CUBN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cargo receptor activity
- signaling receptor activity
- Human growth factor-like EGF
- protein binding
- identical protein binding
- EGF-like domain
- Family of unknown function (DUF5885)
- EGF_CA
- NPXY motif
- CUB
- protein homodimerization
- EGF domain
- hemoglobin binding
- transmembrane receptor
- Coagulation Factor Xa inhibitory site
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Imerslund-Grasbeck syndrome type 1
- enterocyte cobalamin malabsorption
- colorectal cancer
- hereditary disorder
- chronic benign proteinuria
- albuminuria
- binge eating disorder
- Kawasaki disease
- bipolar I disorder
- pervasive developmental disorder
role in cell
- expression in
- endocytosis by
- binding in
- response
- uptake 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.
- Plasma Membrane
- detergent-soluble membrane fractions
- membrane fraction
- endocytic vesicle membrane
- Cytoplasm
- cell surface
- apical compartment
- perinuclear region
- cellular membrane
- endosomes
- vesicles
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- granules
- endocytic tubules
- cytosol
- apical cytoplasm
- apical cell surfaces
- apical membrane
- lysosomal compartment
- recycling endosomes
- late endosomes
- endocytotic vesicle
- brush border
- clathrin-coated pits
- microvilli
- brush border membrane vesicles
- exosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CUBN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tissue homeostasis
- response to bacterium
- cholesterol metabolic process
- cobalamin metabolic process
- establishment of localization in cell
- cobalamin transport
- receptor-mediated endocytosis
- lipoprotein transport
Cellular Component
Where in the cell the gene product is active
- Golgi apparatus
- receptor complex
- lysosomal lumen
- endoplasmic reticulum
- plasma membrane
- lysosomal membrane
- microvillus membrane
- endocytic vesicle
- endosome
- brush border membrane
- extracellular vesicular exosome
- coated pit
- membrane
- cytosol
- extrinsic to external side of plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- calcium ion binding
- cobalamin binding
- cargo receptor activity
- signaling receptor activity