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

    Gene ID: 56259, updated on 7-Apr-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
    mouse all
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    Genomic context

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    Location:
    20q11.23
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (37694030..37872118)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39418121..39596191)
    105.20220307 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
    • 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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    Related articles in PubMed

    1. Regulation of UV-B-Induced Inflammatory Mediators by Activity-Dependent Neuroprotective Protein (ADNP)-Derived Peptide (NAP) in Corneal Epithelium. Maugeri G, et al. Int J Mol Sci, 2023 Apr 7. PMID 37108060, Free PMC Article
    2. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. Kuhny M, et al. J Clin Invest, 2020 Aug 3. PMID 32484799, Free PMC Article
    3. Spliceosome-associated factor CTNNBL1 promotes proliferation and invasion in ovarian cancer. Li Y, et al. Exp Cell Res, 2017 Aug 1. PMID 28501461
    4. No association between CTNNBL1 and episodic memory performance. Liu T, et al. Transl Psychiatry, 2014 Sep 30. PMID 25268258, Free PMC Article
    5. The structure of full-length human CTNNBL1 reveals a distinct member of the armadillo-repeat protein family. Huang X, et al. Acta Crystallogr D Biol Crystallogr, 2013 Aug. PMID 23897482

    See all (105) citations in PubMed

    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)

    Genotypes

    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
      UniProtKB/TrEMBL
      A0A087WUB9
      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
      UniProtKB/TrEMBL
      A0A087WUB9
      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_2023_10

    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

      UniProtKB/TrEMBL
      A0A087WUB9
      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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