CTNNBIP1 Gene - Catenin Beta Interacting Protein 1
Regulator of Wnt/β-catenin signaling and transcriptional activation
Gene Information Card
| Symbol | CTNNBIP1 |
|---|---|
| Full Name | Catenin Beta Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 56998 ncbi.nlm.nih.gov/gene/56998 |
| Ensembl ID | ENSG00000178585 |
| UniProt ID | Q9NSA3 |
| OMIM ID | 607758 |
| HGNC ID | 15972 |
| Aliases | ICAT, FLJ21687, MGC8688 |
Description
CTNNBIP1 (Catenin Beta Interacting Protein 1) encodes a protein that binds to β-catenin and inhibits its interaction with TCF/LEF transcription factors, thereby negatively regulating Wnt/β-catenin signaling. This gene is involved in cell proliferation, differentiation, and development. Dysregulation of CTNNBIP1 has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of CTNNBIP1 expression leads to increased β-catenin/TCF transcriptional activity, promoting tumorigenesis | PMID: 12446744 |
| Hepatocellular carcinoma | Reduced CTNNBIP1 expression correlates with β-catenin activation and poor prognosis | PMID: 19029908 |
| Gastric cancer | CTNNBIP1 downregulation associated with Wnt pathway activation and metastasis | PMID: 21573172 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.6 | Embryonic kidney |
| HeLa | 14.2 | Cervical cancer |
| HepG2 | 22.1 | Hepatocellular carcinoma |
| MCF7 | 9.8 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.205C>T (p.Arg69Trp) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CTNNBIP1 are predicted to reduce inhibition of β-catenin, leading to aberrant Wnt signaling.
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) | • transcription factor binding (GO:0008134) |
| • Wnt signaling pathway (GO:0016055) | • transcription regulatory region DNA binding (GO:0044212) |
| • nucleus (GO:0005634) |
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Beta-catenin/TCF transactivation (Reactome: R-HSA-201681)
Protein Summary
CTNNBIP1 (ICAT) is a 81-amino acid protein that directly binds to β-catenin, blocking its interaction with TCF/LEF transcription factors. This inhibition prevents transcriptional activation of Wnt target genes. The protein is predominantly nuclear and is expressed in multiple tissues. Its structure includes a conserved β-catenin-binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTNNBIP1 Knockout HEK293 Cell Line | EDJ-KQ1689 | Human | 56998 | Details Get a Quote |
| CTNNBIP1 Knockout A-549 Cell Line | EDJ-KQ22808 | Human | 56998 | Details Get a Quote |
| CTNNBIP1 Knockout HCT 116 Cell Line | EDJ-KQ22809 | Human | 56998 | Details Get a Quote |
| CTNNBIP1 Knockout HeLa Cell Line | EDJ-KQ22810 | Human | 56998 | Details Get a Quote |
