CTNNBL1 Gene Summary [Human]

The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]

Details

Type
Protein Coding
Official Symbol
CTNNBL1
Official Name
catenin beta like 1 [Source:HGNC Symbol;Acc:HGNC:15879]
Ensembl ID
ENSG00000132792
Bio databases IDs NCBI: 56259 Ensembl: ENSG00000132792
Aliases catenin beta like 1, nuclear associated protein
Synonyms 5730471K09Rik, C20orf33, catenin beta like 1, catenin, beta like 1, catenin β like 1, catenin, β like 1, dJ633O20.1, IMD99, NAP, NYD-SP19, P14L, PP8304
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CTNNBL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Catenin-beta-like, Arm-motif containing nuclear
  • enzyme binding
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • common variable immunodeficiency
  • immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
  • Rett syndrome
  • postural instability
regulated by
role in cell
  • apoptosis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • centrosome
  • cytosol
  • spliceosomes
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CTNNBL1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of apoptotic process
  • adaptive immune response
  • somatic diversification of immunoglobulins
  • nuclear mRNA splicing, via spliceosome

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • centrosome
  • membrane
  • spliceosomal complex
  • cytosol
  • Prp19 complex
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • enzyme binding

Gene-Specific Assays for Results You Can Trust

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