CTBP1: C-Terminal Binding Protein 1 - Transcriptional Corepressor and Cancer-Associated Gene
Comprehensive biomedical reference for CTBP1, including gene card, expression, mutations, and disease associations.
Gene Information Card
| Symbol | CTBP1 |
|---|---|
| Full Name | C-terminal binding protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 1487 ncbi.nlm.nih.gov/gene/1487 |
| Ensembl ID | ENSG00000159692 |
| UniProt ID | Q13363 |
| OMIM ID | 602618 |
| HGNC ID | 2494 |
| Aliases | CTBP, HADDTS, BARS |
Description
CTBP1 encodes C-terminal binding protein 1, a transcriptional corepressor that interacts with adenovirus E1A and cellular transcription factors. It functions in development, cell cycle regulation, and apoptosis. Aberrant expression or mutation is linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | CTBP1 interacts with mutant huntingtin protein, contributing to transcriptional dysregulation | PMID: 12408810; NCBI GeneRIF |
| Colorectal cancer | CTBP1 overexpression represses tumor suppressor genes, promoting epithelial-mesenchymal transition | PMID: 23542344; COSMIC |
| Breast cancer | CTBP1 upregulation correlates with poor prognosis and metastasis | PMID: 25605247; ClinVar |
| Intellectual disability (HADDTS) | De novo missense mutations in CTBP1 cause a neurodevelopmental disorder with hypotonia and dysmorphic features | PMID: 27745832; OMIM #602618 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Lung | 5.4 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney; high expression |
| HeLa | 9.1 | Cervical carcinoma; moderate expression |
| MCF7 | 7.6 | Breast cancer; moderate expression |
| HCT116 | 6.2 | Colorectal carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | <0.01% | Reduces transcriptional repression activity; associated with HADDTS |
| c.344G>A (p.Arg115Gln) | Missense | <0.01% | Impaired binding to E1A; developmental delay |
| c.721C>T (p.Arg241Trp) | Missense | <0.01% | Loss of corepressor function; intellectual disability |
| c.1015G>A (p.Gly339Arg) | Missense | <0.01% | Altered nuclear localization; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro34Leu, p.Arg115Gln) impair transcriptional repression and E1A binding, leading to loss of function in developmental contexts.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a dominant oncogenic driver via repressing tumor suppressors.
Dominant Negative (DN)
Some CTBP1 mutants (e.g., p.Arg241Trp) can interfere with wild-type protein function, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Adherens junction (KEGG: hsa04520)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
• p53 signaling pathway (Reactome: R-HSA-3700989)
• Notch signaling (Reactome: R-HSA-157118)
Protein Summary
CTBP1 is a 48 kDa nuclear and cytoplasmic protein containing a NAD(H)-binding domain and a dehydrogenase-like fold. It functions as a transcriptional corepressor by recruiting histone deacetylases and methyltransferases to target promoters. CTBP1 also regulates Golgi fission and is involved in apoptosis, cell cycle control, and development. Mutations cause HADDTS, and overexpression is oncogenic in multiple cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTBP1 Knockout HEK293 Cell Line | EDJ-KQ4381 | Human | 1487 | Details Get a Quote |
| CTBP1 Knockout A-549 Cell Line | EDJ-KQ26899 | Human | 1487 | Details Get a Quote |
| CTBP1 Knockout HCT 116 Cell Line | EDJ-KQ26900 | Human | 1487 | Details Get a Quote |
| CTBP1 Knockout HeLa Cell Line | EDJ-KQ26901 | Human | 1487 | Details Get a Quote |
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