CTNNBL1
Catenin Beta Like 1
Gene Information Card
| Symbol | CTNNBL1 |
|---|---|
| Full Name | Catenin Beta Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 56259 ncbi.nlm.nih.gov/gene/56259 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q8WYA6 |
| OMIM ID | 611537 |
| HGNC ID | 15979 |
| Aliases | C20orf33, dJ1042K10.4, NAP1L2, NAP1L2-like |
Description
CTNNBL1 encodes a protein that contains a catenin-beta-like armadillo repeat domain and is a component of the spliceosome complex. It is involved in pre-mRNA splicing, particularly in the activation of the spliceosome and the regulation of alternative splicing. The protein also interacts with the nuclear export machinery and may play a role in immune cell function. Mutations in CTNNBL1 have been associated with primary immunodeficiency and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary immunodeficiency with recurrent infections | Loss-of-function mutations impair spliceosome assembly, leading to defective lymphocyte development and function | ClinVar, OMIM |
| Acute lymphoblastic leukemia (ALL) | Somatic mutations and altered expression may contribute to leukemogenesis through dysregulated splicing | COSMIC, PubMed |
| Colorectal cancer | CTNNBL1 overexpression linked to Wnt pathway modulation and tumor progression | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.2 | Medium |
| Bone marrow | 7.1 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| K562 | 11.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| Jurkat | 8.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Loss of function; associated with immunodeficiency |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Impaired spliceosome binding; reported in ALL |
| c.1022A>G (p.Asn341Ser) | Missense | 0.02% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the armadillo repeat domain, leading to reduced spliceosome activity and immune defects.
Gain of Function (GOF)
Not well characterized; some missense variants may increase protein stability or alter splicing regulation in cancer.
Dominant Negative (DN)
Not reported for CTNNBL1.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing via spliceosome | • RNA binding |
| • protein binding | • nucleus |
| • cytoplasm | • spliceosomal complex |
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72163)
Protein Summary
CTNNBL1 is a 563-amino acid protein with a central armadillo repeat domain that mediates protein-protein interactions. It is a core component of the spliceosome, specifically the B complex, and facilitates the recruitment of splicing factors. The protein shuttles between the nucleus and cytoplasm and interacts with the nuclear export receptor CRM1. CTNNBL1 is ubiquitously expressed with highest levels in testis and lymphoid tissues. Its role in immune function is highlighted by its association with primary immunodeficiency when mutated.
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