CD320 Gene Summary [Human]
This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CD320 |
| Official Name | CD320 molecule [Source:HGNC Symbol;Acc:HGNC:16692] |
| Ensembl ID | ENSG00000167775 |
| Bio databases IDs | |
| Aliases | CD320 molecule, 8D6 antigen, Transcobalamin receptor |
| Synonyms | 425O18-1, 8D6, 8D6A, CD320 antigen, CD320 molecule, D17Ertd716e, LOC100365110, LOC108348365, LOC688345, NG29, RGD1305860, sCD320, TCBLR, TCII-R, TCN2R, VLDL |
| 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 CD320 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- vitamin binding
- cargo receptor activity
- binding protein
- LDLa
- calcium ion binding
- protein binding
- tetrapyrrole binding
- transmembrane receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- methylmalonic aciduria due to transcobalamin receptor defect
- anemia
- androgenic alopecia
- obsessive-compulsive disorder
- cobalamin deficiency
regulates
- cyanocobalamin
- dl-cystathionine
- methylmalonic acid
- homocysteine
- tetracarboxyphenylporphine
- CD320
role in cell
- proliferation
- growth
- cell cycle progression
- phagocytosis
- co-stimulation
- depletion
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
- cell surface
- intracellular space
- cellular membrane
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CD320 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of vitamin metabolic process
- vesicle-mediated transport
- signal transduction
- B cell costimulation
- ventral spinal cord development
- positive regulation of B cell proliferation
- cobalamin transport
Cellular Component
Where in the cell the gene product is active
- caveola
- membrane
- endoplasmic reticulum
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- protein binding
- cobalamin binding
- cargo receptor activity
- calcium ion binding