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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CTNNBL1
catenin beta like 1
Chromosome 20 · 20q11.23
NCBI Gene: 56259Ensembl: ENSG00000132792.22HGNC: HGNC:15879UniProt: Q8WYA6
116PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingenzyme bindingnucleoplasmmembraneimmunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasneurodegenerative diseasedengue diseaseAbnormality of the skeletal system
✦AI Summary

CTNNBL1 (catenin beta like 1) is a component of the PRP19-CDC5L spliceosomal complex essential for pre-mRNA splicing activation 1. The protein functions as a dimer that forms a heterotetramer with CDC5L, with the N-terminal region and ARM repeats critical for oligomerization 1. Beyond splicing, CTNNBL1 participates in AID/AICDA-mediated somatic hypermutation (SHM) and class-switch recombination (CSR) by binding activation-induced cytidine deaminase (AID) and facilitating its nuclear localization 2. Disease-associated CTNNBL1 mutations impair this function; the M466V variant reduces AID-nucleus association, resulting in decreased SHM frequency in immunodeficiency patients 2. CTNNBL1 also restricts HIV-1 replication by suppressing viral DNA integration through interaction with viral integrase 3. In cancer biology, CTNNBL1 is upregulated in high-grade serous ovarian carcinoma where it promotes cell proliferation and invasion while regulating splicing of cancer-related genes like IFI16 and FOXM1 4. Functionally, CTNNBL1 contains nuclear localization signals and localizes to the nucleus, where transient expression induces apoptosis 5. Genetic variants associate with body weight and obesity risk in meta-analyses 6. CTNNBL1 is also linked to episodic memory performance through genotype-dependent effects on brain activation 7.

Sources cited
1
CTNNBL1 forms dimers with specific structural requirements and creates heterotetramers with CDC5L in the spliceosome
PMID: 26381213
2
CTNNBL1 M466V mutation impairs AID binding and nuclear localization, causing defective somatic hypermutation in immunodeficiency patients
PMID: 32484799
3
CTNNBL1 restricts HIV-1 replication by inhibiting viral DNA integration through integrase interaction
PMID: 35294870
4
CTNNBL1 is upregulated in ovarian cancer and promotes proliferation and invasion while regulating splicing events
PMID: 28501461
5
CTNNBL1 contains nuclear localization signals, localizes to nucleus, and induces apoptosis when expressed
PMID: 12659813
6
CTNNBL1 genetic variants associate with body weight and obesity risk in meta-analyses
PMID: 19245693
7
CTNNBL1 is associated with episodic memory performance with genotype-dependent effects on brain activation
PMID: 22105620
Disease Associationsⓘ21
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
dengue diseaseOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.33Weak
obesityOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.30Weak
tooth diseaseOpen Targets
0.24Weak
ovarian neoplasmOpen Targets
0.24Weak
Alzheimer diseaseOpen Targets
0.18Weak
neoplasmOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
neuroblastomaOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
melanomaOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
carcinomaOpen Targets
0.02Suggestive
chronic myelogenous leukemiaOpen Targets
0.02Suggestive
mesotheliomaOpen Targets
0.02Suggestive
Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HSPA8Protein interaction100%PQBP1Protein interaction100%SNRPFProtein interaction100%XAB2Protein interaction100%PRPF8Protein interaction100%SNRPA1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
99%
Brain
92%
Lung
84%
Liver
77%
Ovary
67%
Gene Interaction Network
Click a node to explore
CTNNBL1HSPA8PQBP1SNRPFXAB2PRPF8SNRPA1
PROTEIN STRUCTURE
Preparing viewer…
PDB4MFU · 2.74 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.47 [0.34–0.65]
RankingsWhere CTNNBL1 stands among ~20K protein-coding genes
  • #4,077of 20,598
    Most Researched116 · top quartile
  • #4,667of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedCTNNBL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Studies of CTNNBL1 and FDFT1 variants and measures of obesity: analyses of quantitative traits and case-control studies in 18,014 Danes.
PMID: 19245693
BMC Med Genet · 2009
1.00
2
Sequence, gene structure, and expression pattern of CTNNBL1, a minor-class intron-containing gene--evidence for a role in apoptosis.
PMID: 12659813
Genomics · 2003
0.90
3
Alternative splicing in ovarian cancer.
PMID: 39425166
Cell Commun Signal · 2024
0.80
4
A genome-wide survey and functional brain imaging study identify CTNNBL1 as a memory-related gene.
PMID: 22105620
Mol Psychiatry · 2013
0.70
5
Small angle X-ray scattering studies of CTNNBL1 dimerization and CTNNBL1/CDC5L complex.
PMID: 26381213
Sci Rep · 2015
0.60