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

    Gene ID: 56259, updated on 7-Apr-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CTNNBL1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001281495.2NP_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:30135
      CTNNBL; Catenin-beta-like, Arm-motif containing nuclear
    2. NM_030877.5NP_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:57162
      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_024451947.2XP_024307715.1  beta-catenin-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A087WUB9
      Conserved Domains (1) summary
      pfam08216
      Location:30135
      CTNNBL; Catenin-beta-like, Arm-motif containing nuclear
    2. XM_011528917.3XP_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:152
      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_054323721.1XP_054179696.1  beta-catenin-like protein 1 isoform X1

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