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CTNNBL1 catenin beta like 1 [ Homo sapiens (human) ]

Gene ID: 56259, updated on 2-Nov-2024

Summary

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Official Symbol
CTNNBL1provided by HGNC
Official Full Name
catenin beta like 1provided by HGNC
Primary source
HGNC:HGNC:15879
See related
Ensembl:ENSG00000132792 MIM:611537; AllianceGenome:HGNC:15879
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAP; P14L; IMD99; PP8304; C20orf33; dJ633O20.1
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]
Expression
Ubiquitous expression in spleen (RPKM 24.9), testis (RPKM 22.5) and 25 other tissues See more
Orthologs
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Genomic context

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See CTNNBL1 in Genome Data Viewer
Location:
20q11.23
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (37694030..37872118)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39418121..39596191)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36322432..36500520)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100287792 Neighboring gene uncharacterized LOC105372609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12893 Neighboring gene uncharacterized LOC124904895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36414145-36414646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36414647-36415146 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:36416862-36418061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36504902-36505402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36505403-36505903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12895 Neighboring gene uncharacterized LOC124904896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36530829-36531792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36537707-36538207 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36542615-36543462 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36543463-36544310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36545629-36546130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17852 Neighboring gene V-set and transmembrane domain containing 2 like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36568310-36568810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36568811-36569311 Neighboring gene MPRA-validated peak4207 silencer Neighboring gene RN7SK pseudogene 185

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Regulation of UV-B-Induced Inflammatory Mediators by Activity-Dependent Neuroprotective Protein (ADNP)-Derived Peptide (NAP) in Corneal Epithelium.
    Title: Regulation of UV-B-Induced Inflammatory Mediators by Activity-Dependent Neuroprotective Protein (ADNP)-Derived Peptide (NAP) in Corneal Epithelium.
  2. Transcriptional Regulation of Wnt/beta-Catenin Pathway in Colorectal Cancer.
    Title: Transcriptional Regulation of Wnt/β-Catenin Pathway in Colorectal Cancer.
  3. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.
    Title: Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.
  4. CTNNBL1 regulates multiple splicing events and gene expression in ovarian cancer cells
    Title: Spliceosome-associated factor CTNNBL1 promotes proliferation and invasion in ovarian cancer.
  5. Tthis study identified WNT5B and CTNNBL1 for peak bone mineral density and body composition in males from the Han Chinese ethnic group.
    Title: Polymorphisms in Wnt signaling pathway genes are associated with peak bone mineral density, lean mass, and fat mass in Chinese male nuclear families.
  6. The results show that CTNNBL1 enhances the association of CWC15 and CDC5L, both core Prp19 complex proteins and identify an overlap in the region of CDC5L that binds either CTNNBL1 or CWC15 suggesting the two proteins might exchange places in the complex.
    Title: CTNNBL1 facilitates the association of CWC15 with CDC5L and is required to maintain the abundance of the Prp19 spliceosomal complex.
  7. Variants in the gene CTNNBL1 (encoding catenin-beta-like 1, located on chromosome 20 q11.23-q12) have been found to be associated with verbal episodic memory performance.
    Title: No association between CTNNBL1 and episodic memory performance.
  8. The crystal structure of CTNNBL1 shows that the protein coalphansists mainly of alpha-helices and forms an armadillo (ARM) repeat. structure
    Title: Structural insights into the novel ARM-repeat protein CTNNBL1 and its association with the hPrp19-CDC5L complex.
  9. Results indicate CTNNBL1 as a unique selective nuclear localization signals (NLSs)-binding protein with striking differences from karyopherin-alphas.
    Title: Structural and mutational analysis reveals that CTNNBL1 binds NLSs in a manner distinct from that of its closest armadillo-relative, karyopherin α.
  10. CTNNBL1 crystal structure provides critical insights into the molecular interactions between CTNNBL1 and its protein partners.
    Title: The structure of full-length human CTNNBL1 reveals a distinct member of the armadillo-repeat protein family.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
MedGen: C5676971 OMIM: 619846 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21108

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA splicing, via spliceosome NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in somatic diversification of immunoglobulins IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of Prp19 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Prp19 complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of spliceosomal complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of spliceosomal complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
beta-catenin-like protein 1
Names
nuclear associated protein
testis development protein NYD-SP19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001281495.2 → NP_001268424.1  beta-catenin-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001268424.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AA469176, AK293420, DC358260
    Consensus CDS
    CCDS63269.1
    Related
    ENSP00000487198.1, ENST00000628103.2
    Conserved Domains (1) summary
    pfam08216
    Location:30 → 135
    CTNNBL; Catenin-beta-like, Arm-motif containing nuclear

  2. NM_030877.5 → NP_110517.2  beta-catenin-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_110517.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF239607, DC358260
    Consensus CDS
    CCDS13298.1
    UniProtKB/Swiss-Prot
    B4DE16, Q0VAL9, Q0VAM0, Q53HI8, Q5JWZ2, Q5JWZ3, Q5JWZ7, Q5JWZ8, Q8N454, Q8NCL2, Q8TBD6, Q8WYA6, Q96KD2, Q9H7A5, Q9NQF9, Q9NTX0, Q9Y3M7
    Related
    ENSP00000355050.6, ENST00000361383.11
    Conserved Domains (1) summary
    pfam08216
    Location:57 → 162
    CTNNBL; Catenin-beta-like, Arm-motif containing nuclear

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    37694030..37872118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451947.2 → XP_024307715.1  beta-catenin-like protein 1 isoform X1

    Conserved Domains (1) summary
    pfam08216
    Location:30 → 135
    CTNNBL; Catenin-beta-like, Arm-motif containing nuclear

  2. XM_011528917.3 → XP_011527219.1  beta-catenin-like protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011527219.1

    UniProtKB/Swiss-Prot
    Q8WYA6
    Related
    ENSP00000362572.1, ENST00000373473.5
    Conserved Domains (1) summary
    pfam08216
    Location:1 → 52
    CTNNBL; Catenin-beta-like, Arm-motif containing nuclear

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    39418121..39596191
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323721.1 → XP_054179696.1  beta-catenin-like protein 1 isoform X1

  2. XM_054323722.1 → XP_054179697.1  beta-catenin-like protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WYA6.1 GenPept UniProtKB/Swiss-Prot:Q8WYA6

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