2. Gene
  3. CTNNBL1 - catenin beta like 1 Gene

CTNNBL1 - catenin beta like 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NAP; P14L; IMD99; PP8304; C20orf33; dJ633O20.1

Gene ID: 56259 | Gene type: protein coding

About CTNNBL1

Cytogenetic location: 20q11.23 Genomic coordinates (GRCh38): 20:37,694,030-37,872,118 (from NCBI)

This gene has 10 transcripts (splice variants), 214 orthologues and is associated with 1 phenotype. Ubiquitous expression in spleen (RPKM 24.9), testis (RPKM 22.5) and 25 other tissues.

Summary

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]

CTNNBL1 Products(2)

mRNA Protein Name
NM_001281495.2 NP_001268424.1 beta-catenin-like protein 1 isoform 2
NM_030877.5 NP_110517.2 beta-catenin-like protein 1 isoform 1

CTNNBL1 Protein Structure

CTNNBL

CTNNBL: Catenin-beta-like, Arm-motif containing nuclear (53 - 162)

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  • 563 a.a.
Protein Preferred Names Protein Names

beta-catenin-like protein 1

nuclear associated protein

Related Diseases

Diseases Alias
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias

IMD99
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03310 CTNNBL1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta CTNNBL1 VGNC VGNC:71414
Canis familiaris CTNNBL1 VGNC VGNC:39701
Rattus norvegicus CTNNBL1 RGD RGD:1563558
Bos taurus CTNNBL1 VGNC VGNC:27804
Mus musculus CTNNBL1 MGD MGI:1913892
Felis catus CTNNBL1 VGNC VGNC:61257