CALB1 Gene Summary [Human]
The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]
Details
| Type | Retained Intron |
| Official Symbol | CALB1 |
| Official Name | calbindin 1 [Source:HGNC Symbol;Acc:HGNC:1434] |
| Ensembl ID | ENSG00000104327 |
| Bio databases IDs | |
| Aliases | calbindin 1 |
| Synonyms | Brain-2, CaBP28K, Cabp-d28k, Cad28k, CALB, calbindin 1, CALBINDIN D, CALBINDIN-D28K, CB, CB28K, D-28K |
| 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 CALB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EF-hand, calcium binding motif
- EF-hand domain
- zinc ion binding
- EF-hand, calcium binding motif, found in the hexa-EF hand proteins family
- EF-hand domain pair
- EF hand
- calcium ion binding
- EFh
- protein binding
Pathways
Biological processes and signaling networks where the CALB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic nephropathy
- organismal death
- Huntington disease
- epithelial cancer
- schizophrenia
- renal pelvis carcinoma
- renal pelvis cancer
- Alzheimer disease
- kidney stones
- ataxia
role in cell
- expression in
- survival
- cell death
- number
- apoptosis
- quantity
- cytotoxic reaction
- abnormal morphology
- function
- fragmentation
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
- glutaminergic synapse
- intracellular space
- basal compartment
- perinuclear region
- postsynaptic region
- Nucleus
- cytosol
- stereocilia
- basolateral membrane
- dendritic spines
- neurites
- nerve ending
- dendritic trees
- synapse
- cuticular plate
- perikaryon
- axons
- dendrites
- axon terminals
- mossy fibers
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CALB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- metanephric connecting tubule development
- long-term memory
- short-term memory
- regulation of long-term synaptic potentiation
- locomotory behavior
- cochlea development
- metanephric distal convoluted tubule development
- retina layer formation
- response to auditory stimulus
- metanephric collecting duct development
- metanephric ureteric bud development
Cellular Component
Where in the cell the gene product is active
- neuronal cell body
- synapse
- calyx of Held
- nucleus
- dendrite
- extracellular vesicular exosome
- terminal button
- dendritic spine
- cytosol
- stereocilium
- cuticular plate
- axon
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- calcium ion binding
- vitamin D binding