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Aliases for CTNNBL1 Gene

Aliases for CTNNBL1 Gene

  • Catenin Beta Like 1 2 3 5
  • Testis Development Protein NYD-SP19 3 4
  • Nuclear Associated Protein 2 3
  • C20orf33 3 4
  • NAP 3 4
  • Chromosome 20 Open Reading Frame 33 2
  • Beta-Catenin-Like Protein 1 3
  • Nuclear-Associated Protein 4
  • Catenin, Beta Like 1 2
  • DJ633O20.1 3
  • PP8304 3
  • P14L 3

External Ids for CTNNBL1 Gene

Previous HGNC Symbols for CTNNBL1 Gene

  • C20orf33

Previous GeneCards Identifiers for CTNNBL1 Gene

  • GC20P036050
  • GC20P036960
  • GC20P037007
  • GC20P035755
  • GC20P036322
  • GC20P033058

Summaries for CTNNBL1 Gene

Entrez Gene Summary for CTNNBL1 Gene

  • 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]

GeneCards Summary for CTNNBL1 Gene

CTNNBL1 (Catenin Beta Like 1) is a Protein Coding gene. Diseases associated with CTNNBL1 include Sleep Disorder and Auditory Agnosia. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include binding and enzyme binding.

UniProtKB/Swiss-Prot for CTNNBL1 Gene

  • Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated Ig class switching recombination (CSR). May induce apoptosis.

Gene Wiki entry for CTNNBL1 Gene

Additional gene information for CTNNBL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTNNBL1 Gene

Genomics for CTNNBL1 Gene

GeneHancer (GH) Regulatory Elements for CTNNBL1 Gene

Promoters and enhancers for CTNNBL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I037693 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 185 1.9 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 CTNNBL1 SNHG17 RALGAPB SNORA71C RBL1 VSTM2L GC20P037869
GH20I037732 Promoter 0.5 EPDnew 550.3 +38.9 38916 0.1 CTNNBL1 GC20P037869
GH20I038139 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.2 +462.0 462035 33.6 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF143 MCM3 SP3 NFYC TGM2 SNHG17 RALGAPB ACTR5 RN7SKP173 SNORA71A TTI1 SNORA71C RPN2 DHX35
GH20I038433 Promoter/Enhancer 1.6 Ensembl ENCODE 20.6 +740.9 740863 2.9 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SNHG17 GC20M038437 GC20M038434 SNORA71D ACTR5 RALGAPB ENSG00000224635 TTI1 SNORA71A SNORA71C
GH20I037177 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.3 -514.7 -514679 3.3 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MROH8 RPN2 TTI1 RBL1 DSN1 AAR2 CTNNBL1 DLGAP4-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CTNNBL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTNNBL1 gene promoter:

Genomic Locations for CTNNBL1 Gene

Genomic Locations for CTNNBL1 Gene
chr20:37,693,955-37,872,129
(GRCh38/hg38)
Size:
178,175 bases
Orientation:
Plus strand
chr20:36,322,408-36,500,531
(GRCh37/hg19)

Genomic View for CTNNBL1 Gene

Genes around CTNNBL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTNNBL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTNNBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTNNBL1 Gene

Proteins for CTNNBL1 Gene

  • Protein details for CTNNBL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYA6-CTBL1_HUMAN
    Recommended name:
    Beta-catenin-like protein 1
    Protein Accession:
    Q8WYA6
    Secondary Accessions:
    • B4DE16
    • Q0VAL9
    • Q0VAM0
    • Q53HI8
    • Q5JWZ2
    • Q5JWZ3
    • Q5JWZ7
    • Q5JWZ8
    • Q8N454
    • Q8NCL2
    • Q8TBD6
    • Q96KD2
    • Q9H7A5
    • Q9NQF9
    • Q9NTX0
    • Q9Y3M7

    Protein attributes for CTNNBL1 Gene

    Size:
    563 amino acids
    Molecular mass:
    65173 Da
    Quaternary structure:
    • Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts directly with CWC15 and CDC5L in the complex. Interacts with AICDA; the interaction is important for the antibody diversification activity of AICDA. Interacts with PRPF31 (via its NLS). Interacts (via its N-terminal NLS) with KPNA1 and KPNA2.
    SequenceCaution:
    • Sequence=AAQ15267.1; Type=Frameshift; Positions=96; Evidence={ECO:0000305}; Sequence=BAB14992.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CTNNBL1 Gene

    Alternative splice isoforms for CTNNBL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTNNBL1 Gene

Post-translational modifications for CTNNBL1 Gene

  • Ubiquitination at Lys332 and Lys429
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CTNNBL1 Gene

Domains & Families for CTNNBL1 Gene

Gene Families for CTNNBL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for CTNNBL1 Gene

Suggested Antigen Peptide Sequences for CTNNBL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WYA6

UniProtKB/Swiss-Prot:

CTBL1_HUMAN :
  • The surface residues of the concave side of the superhelical ARM repeat region contribute to, but are not essential for NLS binding.
Domain:
  • The surface residues of the concave side of the superhelical ARM repeat region contribute to, but are not essential for NLS binding.
genes like me logo Genes that share domains with CTNNBL1: view

Function for CTNNBL1 Gene

Molecular function for CTNNBL1 Gene

UniProtKB/Swiss-Prot Function:
Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated Ig class switching recombination (CSR). May induce apoptosis.

Phenotypes From GWAS Catalog for CTNNBL1 Gene

Gene Ontology (GO) - Molecular Function for CTNNBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18722174
GO:0019899 enzyme binding IPI 18722174
genes like me logo Genes that share ontologies with CTNNBL1: view
genes like me logo Genes that share phenotypes with CTNNBL1: view

Animal Models for CTNNBL1 Gene

MGI Knock Outs for CTNNBL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CTNNBL1 Gene

Localization for CTNNBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTNNBL1 Gene

Isoform 1: Nucleus.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTNNBL1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
mitochondrion 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CTNNBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000974 Prp19 complex IDA 15175653
GO:0005634 nucleus IEA,IDA 12659813
GO:0005654 nucleoplasm TAS,IDA --
GO:0005681 spliceosomal complex IEA,IDA 20176811
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CTNNBL1: view

Pathways & Interactions for CTNNBL1 Gene

genes like me logo Genes that share pathways with CTNNBL1: view

Pathways by source for CTNNBL1 Gene

Gene Ontology (GO) - Biological Process for CTNNBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0006915 apoptotic process IEA --
GO:0008380 RNA splicing IEA --
GO:0016445 somatic diversification of immunoglobulins IMP 18722174
genes like me logo Genes that share ontologies with CTNNBL1: view

No data available for SIGNOR curated interactions for CTNNBL1 Gene

Drugs & Compounds for CTNNBL1 Gene

No Compound Related Data Available

Transcripts for CTNNBL1 Gene

Unigene Clusters for CTNNBL1 Gene

Catenin, beta like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTNNBL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: - -
SP2: - - - - -
SP3: -

Relevant External Links for CTNNBL1 Gene

GeneLoc Exon Structure for
CTNNBL1
ECgene alternative splicing isoforms for
CTNNBL1

Expression for CTNNBL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTNNBL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CTNNBL1 Gene

This gene is overexpressed in Blymphocyte (9.9) and Spleen (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CTNNBL1 Gene



Protein tissue co-expression partners for CTNNBL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTNNBL1 Gene:

CTNNBL1

SOURCE GeneReport for Unigene cluster for CTNNBL1 Gene:

Hs.472667

mRNA Expression by UniProt/SwissProt for CTNNBL1 Gene:

Q8WYA6-CTBL1_HUMAN
Tissue specificity: Widely expressed with highest levels in skeletal muscle, placenta, heart, spleen, testis and thyroid.

Evidence on tissue expression from TISSUES for CTNNBL1 Gene

  • Skin(4.6)
  • Liver(4.5)
  • Muscle(4.4)
  • Nervous system(4.4)
  • Lung(3.4)
  • Intestine(3.1)
  • Heart(2.7)
  • Kidney(2.4)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with CTNNBL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTNNBL1 Gene

Orthologs for CTNNBL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTNNBL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTNNBL1 33 34
  • 99.53 (n)
oppossum
(Monodelphis domestica)
Mammalia CTNNBL1 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTNNBL1 33 34
  • 93.43 (n)
cow
(Bos Taurus)
Mammalia CTNNBL1 33 34
  • 92.9 (n)
rat
(Rattus norvegicus)
Mammalia Ctnnbl1 33
  • 89.34 (n)
mouse
(Mus musculus)
Mammalia Ctnnbl1 33 16 34
  • 88.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CTNNBL1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTNNBL1 33 34
  • 82.47 (n)
lizard
(Anolis carolinensis)
Reptilia CTNNBL1 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctnnbl1 33
  • 73.78 (n)
MGC76112 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13755 33
zebrafish
(Danio rerio)
Actinopterygii ctnnbl1 33 34
  • 72.31 (n)
zgc77673 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10806 33
fruit fly
(Drosophila melanogaster)
Insecta CG11964 35 33 34
  • 61.17 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001357 33
  • 60.35 (n)
worm
(Caenorhabditis elegans)
Secernentea M01E11.2 35 33 34
  • 52.46 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G02710 33
  • 52.43 (n)
rice
(Oryza sativa)
Liliopsida Os02g0831300 33
  • 50.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7461 33
Species where no ortholog for CTNNBL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTNNBL1 Gene

ENSEMBL:
Gene Tree for CTNNBL1 (if available)
TreeFam:
Gene Tree for CTNNBL1 (if available)

Paralogs for CTNNBL1 Gene

Pseudogenes.org Pseudogenes for CTNNBL1 Gene

genes like me logo Genes that share paralogs with CTNNBL1: view

No data available for Paralogs for CTNNBL1 Gene

Variants for CTNNBL1 Gene

Sequence variations from dbSNP and Humsavar for CTNNBL1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000000123 -- 37,841,911(+) G/A intron_variant
rs1000016523 -- 37,776,126(+) T/C intron_variant
rs1000059623 -- 37,708,238(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000075110 -- 37,831,597(+) A/C intron_variant
rs1000075800 -- 37,762,732(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CTNNBL1 Gene

Variant ID Type Subtype PubMed ID
esv2661276 CNV deletion 23128226
esv2722391 CNV deletion 23290073
esv2758793 CNV loss 17122850
esv3357070 CNV insertion 20981092
esv3370965 CNV insertion 20981092
esv3645768 CNV loss 21293372
nsv1057334 CNV loss 25217958
nsv1062415 CNV loss 25217958
nsv1066778 CNV gain 25217958
nsv1110939 OTHER inversion 24896259
nsv1114213 CNV deletion 24896259
nsv1136540 CNV deletion 24896259
nsv1140159 CNV insertion 24896259
nsv1141964 OTHER inversion 24896259
nsv3371 CNV insertion 18451855
nsv833970 CNV gain 17160897
nsv954033 CNV deletion 24416366

Variation tolerance for CTNNBL1 Gene

Residual Variation Intolerance Score: 16.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.44; 81.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTNNBL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTNNBL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNNBL1 Gene

Disorders for CTNNBL1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CTNNBL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
sleep disorder
  • non-organic sleep disorder
auditory agnosia
periodic limb movement disorder
  • nocturnal myoclonus
apnea, obstructive sleep
  • osa
papillary hidradenoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CTNNBL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CTNNBL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTNNBL1 Gene

Publications for CTNNBL1 Gene

  1. Sequence, gene structure, and expression pattern of CTNNBL1, a minor-class intron-containing gene--evidence for a role in apoptosis. (PMID: 12659813) Jabbour L … Hering TM (Genomics 2003) 2 3 4 22 58
  2. CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31. (PMID: 21385873) Ganesh K … Neuberger M (The Journal of biological chemistry 2011) 2 3 4 58
  3. Studies of CTNNBL1 and FDFT1 variants and measures of obesity: analyses of quantitative traits and case-control studies in 18,014 Danes. (PMID: 19245693) Andreasen CH … Hansen T (BMC medical genetics 2009) 3 22 44 58
  4. Structural and mutational analysis reveals that CTNNBL1 binds NLSs in a manner distinct from that of its closest armadillo-relative, karyopherin α. (PMID: 24269683) Ganesh K … Rada C (FEBS letters 2014) 3 4 58
  5. The structure of full-length human CTNNBL1 reveals a distinct member of the armadillo-repeat protein family. (PMID: 23897482) Huang X … Du Z (Acta crystallographica. Section D, Biological crystallography 2013) 3 4 58

Products for CTNNBL1 Gene

Sources for CTNNBL1 Gene

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