CTNNBL1 - catenin beta like 1 Gene

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	18722174	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18722174	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	12659813	GOA
involved in somatic diversification of immunoglobulins	IMP IMP: Inferred from mutant phenotype	18722174	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Prp19 complex	IDA IDA: Inferred from direct assay	15175653	GOA
part of Prp19 complex	IPI IPI: Inferred from physical interaction	20176811	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12659813	GOA
part of spliceosomal complex	IDA IDA: Inferred from direct assay	20176811	GOA
part of spliceosomal complex	IPI IPI: Inferred from physical interaction	20176811	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CTNNBL1 Protein Structure

CTNNBL

0
100
200
300
400
500
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	Pre-designed Sets	/	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

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