CALB1 Gene: Calbindin 1
A key calcium-binding protein involved in neuronal function and calcium homeostasis
Gene Information Card
| Symbol | CALB1 |
|---|---|
| Full Name | Calbindin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.13-q21.3 |
| NCBI Gene ID | 793 ncbi.nlm.nih.gov/gene/793 |
| Ensembl ID | ENSG00000104327 |
| UniProt ID | P05937 |
| OMIM ID | 114180 |
| HGNC ID | 1434 |
| Aliases | CALB, D-28K, D28K, CAB27 |
Description
CALB1 encodes calbindin 1, a vitamin D-dependent calcium-binding protein that belongs to the troponin C superfamily. It contains four EF-hand calcium-binding domains and is highly expressed in the central nervous system, particularly in Purkinje cells of the cerebellum, as well as in the kidney and intestine. Calbindin 1 buffers intracellular calcium, modulates calcium signaling, and protects cells from calcium-induced apoptosis. It is also involved in neuronal development, synaptic plasticity, and long-term potentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | Reduced CALB1 expression in striatal neurons contributes to calcium dysregulation and neurodegeneration | ClinVar; PMID: 10615123 |
| Cerebellar ataxia | Loss of calbindin 1 in Purkinje cells impairs calcium buffering and leads to motor coordination deficits | OMIM; PMID: 12684512 |
| Colorectal cancer | Altered CALB1 expression may affect calcium-mediated signaling pathways in tumorigenesis | COSMIC; PMID: 23431136 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 123.4 | High |
| Cerebral cortex | 45.2 | Medium |
| Kidney | 32.1 | Medium |
| Small intestine | 18.7 | Low |
| Heart | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.6 | Neuronal model |
| HEK293 (embryonic kidney) | 8.2 | Low expression |
| Caco-2 (colorectal) | 5.1 | Intestinal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.335G>A (p.Arg112Gln) | Missense | <0.01% | Reduced calcium binding affinity; ClinVar |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Impaired protein stability; ClinVar |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg112Gln) reduce calcium-binding capacity, leading to impaired calcium buffering and increased neuronal vulnerability.
Gain of Function (GOF)
No gain-of-function mutations reported in CALB1.
Dominant Negative (DN)
No dominant-negative mutations reported in CALB1.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • axon (GO:0030424) |
| • neuronal cell body (GO:0043025) | • release of sequestered calcium ion into cytosol (GO:0051209) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Vitamin D metabolism and calcium homeostasis
Protein Summary
Calbindin 1 (28 kDa) is a cytosolic calcium-binding protein with four EF-hand motifs. It acts as a calcium buffer and sensor, regulating intracellular calcium levels and protecting cells from excitotoxicity. In the brain, it is a marker for specific neuronal populations, including cerebellar Purkinje cells and hippocampal interneurons. The protein also participates in vitamin D-dependent calcium transport in the kidney and intestine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CALB1 Knockout HEK293 Cell Line | EDJ-KQ4187 | Human | 793 | Details Get a Quote |
| CALB1 Knockout HeLa Cell Line | EDJ-KQ52776 | Human | 793 | Details Get a Quote |
| CALB1 Knockout A-549 Cell Line | EDJ-KQ61245 | Human | 793 | Details Get a Quote |
| CALB1 Knockout HCT 116 Cell Line | EDJ-KQ69743 | Human | 793 | Details Get a Quote |
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