CIB1: Calcium and Integrin Binding Protein 1
A multifunctional calcium-binding protein involved in integrin signaling, cell migration, and cancer progression
Gene Information Card
| Symbol | CIB1 |
|---|---|
| Full Name | Calcium and Integrin Binding 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 10519 ncbi.nlm.nih.gov/gene/10519 |
| Ensembl ID | ENSG00000185022 |
| UniProt ID | Q99828 |
| OMIM ID | 602293 |
| HGNC ID | 2457 |
| Aliases | CIB, KIP, PRKDCIP, SIP2-28 |
Description
CIB1 (Calcium and Integrin Binding 1) encodes a calcium-binding protein that interacts with integrin alpha-IIb (ITGA2B) and other proteins. It regulates cell adhesion, migration, and survival. CIB1 is involved in platelet aggregation, cancer progression, and DNA repair. The protein contains two EF-hand motifs and binds calcium ions, modulating its conformation and interactions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | CIB1 overexpression promotes cell proliferation and migration via integrin signaling | PMID: 25605248 |
| Prostate cancer | CIB1 enhances androgen receptor signaling and tumor growth | PMID: 23541922 |
| Melanoma | CIB1 loss reduces tumor growth and metastasis in mouse models | PMID: 19584285 |
| Thrombocytopenia | CIB1 mutations impair platelet function and integrin activation | PMID: 19176499 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Low |
| Lung | 15.2 | Medium |
| Breast | 18.9 | Medium |
| Prostate | 22.1 | High |
| Skin | 14.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 25.6 | High expression |
| PC3 (prostate cancer) | 30.2 | High expression |
| A375 (melanoma) | 20.1 | Medium expression |
| HEK293 (embryonic kidney) | 12.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236G>A (p.Arg79His) | Missense | 0.01% | Reduced calcium binding and integrin interaction |
| c.389C>T (p.Pro130Leu) | Missense | 0.005% | Altered protein stability |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg79His) impair calcium binding and integrin interaction, reducing cell adhesion and migration.
Gain of Function (GOF)
Not reported in CIB1.
Dominant Negative (DN)
Not reported in CIB1.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • integrin binding (GO:0005178) |
| • cell adhesion (GO:0007155) | • cell differentiation (GO:0030154) |
| • negative regulation of apoptotic process (GO:0043066) |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
CIB1 is a 22 kDa calcium-binding protein with two EF-hand motifs. It localizes to the cytoplasm and plasma membrane. Upon calcium binding, CIB1 undergoes conformational changes that enable interaction with integrin alpha-IIb, focal adhesion kinase (FAK), and other partners. It regulates cell adhesion, migration, and survival. CIB1 is overexpressed in several cancers and promotes tumor progression. It also participates in DNA repair by interacting with DNA-PKcs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIB1 Knockout HEK293 Cell Line | EDJ-KQ50979 | Human | 10519 | Details Get a Quote |
| CIB1 Knockout HeLa Cell Line | EDJ-KQ55422 | Human | 10519 | Details Get a Quote |
| CIB1 Knockout A-549 Cell Line | EDJ-KQ63900 | Human | 10519 | Details Get a Quote |
| CIB1 Knockout HCT 116 Cell Line | EDJ-KQ72359 | Human | 10519 | Details Get a Quote |
