CABIN1: Calcineurin Binding Protein 1
A key regulator of calcineurin signaling and immune response
Gene Information Card
| Symbol | CABIN1 |
|---|---|
| Full Name | Calcineurin Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 23523 ncbi.nlm.nih.gov/gene/23523 |
| Ensembl ID | ENSG00000100220 |
| UniProt ID | Q9Y6J0 |
| OMIM ID | 604251 |
| HGNC ID | 24187 |
| Aliases | CABIN, KIAA0330, PPP3R1BP |
Description
CABIN1 encodes a protein that binds to calcineurin, a calcium-dependent serine/threonine phosphatase. This interaction inhibits calcineurin-mediated dephosphorylation of nuclear factor of activated T-cells (NFAT), thereby modulating T-cell activation and immune responses. CABIN1 is also involved in transcriptional repression and chromatin remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune disorders | Dysregulation of calcineurin-NFAT signaling due to CABIN1 variants may alter T-cell activation thresholds | ClinVar |
| Cancer (various) | Altered CABIN1 expression may affect tumor immune surveillance | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| Jurkat | 14.7 | T-cell line, relevant for immune function |
| HeLa | 10.2 | Moderate expression |
| K562 | 7.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Unknown functional impact |
| c.567delA (p.Glu189fs) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of CABIN1 function, potentially enhancing calcineurin activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • DNA-binding transcription repressor activity (GO:0001227) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • histone deacetylase binding (GO:0042393) |
Pathways
• Calcineurin-NFAT signaling pathway
• T-cell receptor signaling pathway
Protein Summary
CABIN1 is a 2220-amino acid protein that localizes to the nucleus and cytoplasm. It contains a conserved N-terminal domain that binds calcineurin, inhibiting its phosphatase activity. CABIN1 also interacts with histone deacetylases (HDACs) to repress transcription. Its expression is highest in immune tissues and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CABIN1 Knockout HEK293 Cell Line | EDJ-KQ8044 | Human | 23523 | Details Get a Quote |
| CABIN1 Knockout A-549 Cell Line | EDJ-KQ33847 | Human | 23523 | Details Get a Quote |
| CABIN1 Knockout HCT 116 Cell Line | EDJ-KQ33848 | Human | 23523 | Details Get a Quote |
| CABIN1 Knockout HeLa Cell Line | EDJ-KQ33849 | Human | 23523 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
