CBLIF Gene Summary [Human]
This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CBLIF |
| Official Name | cobalamin binding intrinsic factor [Source:HGNC Symbol;Acc:HGNC:4268] |
| Ensembl ID | ENSG00000134812 |
| Bio databases IDs | |
| Aliases | cobalamin binding intrinsic factor |
| Synonyms | cobalamin binding intrinsic factor, GIF, IF, IFMH, INF, INTRINSIC FACTOR, TCN3 |
| 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 CBLIF 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
- Eukaryotic cobalamin-binding protein
- binding protein
- Domain of unknown function (DUF4430)
- protein binding
- tetrapyrrole binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- membrane fraction
- endosomes
- apical membrane
- lysosomal compartment
- microvilli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CBLIF gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cobalt ion transport
- cobalamin transport
Cellular Component
Where in the cell the gene product is active
- extracellular space
- endosome
- microvillus
- lysosomal lumen
- extracellular region
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- cobalamin binding