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Aliases for CTNNBL1 Gene

Aliases for CTNNBL1 Gene

  • Catenin, Beta Like 1 2 3
  • NAP 3 4 6
  • Testis Development Protein NYD-SP19 3 4
  • Nuclear Associated Protein 2 3
  • C20orf33 3 4
  • Chromosome 20 Open Reading Frame 33 2
  • Beta-Catenin-Like Protein 1 3
  • Nuclear-Associated Protein 4
  • DJ633O20.1 3
  • PP8304 3
  • P14L 3

External Ids for CTNNBL1 Gene

Previous Symbols for CTNNBL1 Gene

  • C20orf33

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 obesity. Among its related pathways are Spliceosome. GO annotations related to this gene include 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

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

Genomics for CTNNBL1 Gene

Genomic Location for CTNNBL1 Gene

Start:
37,693,955 bp from pter
End:
37,872,129 bp from pter
Size:
178,175 bases
Orientation:
Plus strand

Genomic View for CTNNBL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CTNNBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTNNBL1 Gene

Regulatory Elements 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

Proteomics data for CTNNBL1 Gene at MOPED

Post-translational modifications for CTNNBL1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys332 and Lys429

Other Protein References for CTNNBL1 Gene

No data available for DME Specific Peptides for CTNNBL1 Gene

Domains for CTNNBL1 Gene

Protein Domains for CTNNBL1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CTBL1_HUMAN
Domain:
  • The surface residues of the concave side of the superhelical ARM repeat region contribute to, but are not essential for NLS binding.:
    • Q8WYA6
Similarity:
  • Contains 5 ARM repeats.:
    • Q8WYA6
  • Contains 2 HEAT repeats.:
    • Q8WYA6
genes like me logo Genes that share domains with CTNNBL1: view

No data available for Gene Families for CTNNBL1 Gene

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

Gene Ontology (GO) - Molecular Function for CTNNBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 18722174
GO:0019899 enzyme binding IPI 18722174
genes like me logo Genes that share ontologies with CTNNBL1: view

Phenotypes for CTNNBL1 Gene

GenomeRNAi human phenotypes for CTNNBL1:
genes like me logo Genes that share phenotypes with CTNNBL1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for CTNNBL1 Gene COMPARTMENTS Subcellular localization image for CTNNBL1 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

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 IDA 12659813
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA 20176811
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CTNNBL1: view

Pathways for CTNNBL1 Gene

SuperPathways for CTNNBL1 Gene

Superpath Contained pathways
1 Spliceosome
genes like me logo Genes that share pathways with CTNNBL1: view

Pathways by source for CTNNBL1 Gene

1 KEGG pathway 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 --
GO:0006915 apoptotic process IEA --
GO:0008380 RNA splicing TAS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with CTNNBL1: view

Transcripts for CTNNBL1 Gene

Unigene Clusters for CTNNBL1 Gene

Catenin, beta like 1:
Representative Sequences:

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 for CTNNBL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CTNNBL1 Gene

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.
genes like me logo Genes that share expressions with CTNNBL1: view

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 36
  • 99.53 (n)
  • 100 (a)
CTNNBL1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTNNBL1 36
  • 92.9 (n)
  • 97.69 (a)
CTNNBL1 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTNNBL1 36
  • 93.43 (n)
  • 98.4 (a)
CTNNBL1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctnnbl1 36
  • 88.99 (n)
  • 96.09 (a)
Ctnnbl1 16
Ctnnbl1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTNNBL1 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTNNBL1 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctnnbl1 36
  • 89.34 (n)
  • 96.8 (a)
chicken
(Gallus gallus)
Aves CTNNBL1 36
  • 82.47 (n)
  • 92.9 (a)
CTNNBL1 37
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTNNBL1 37
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13755 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ctnnbl1 36
  • 73.78 (n)
  • 82.46 (a)
MGC76112 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10806 36
zebrafish
(Danio rerio)
Actinopterygii ctnnbl1 36
  • 72.31 (n)
  • 78.97 (a)
ctnnbl1 37
  • 79 (a)
OneToOne
zgc77673 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001357 36
  • 60.35 (n)
  • 60.47 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11964 36
  • 61.17 (n)
  • 59.06 (a)
CG11964 37
  • 54 (a)
OneToOne
CG11964 38
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea M01E11.2 36
  • 52.46 (n)
  • 48.95 (a)
M01E11.2 37
  • 44 (a)
OneToOne
M01E11.2 38
  • 46 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G02710 36
  • 52.43 (n)
  • 43.78 (a)
rice
(Oryza sativa)
Liliopsida Os02g0831300 36
  • 50.43 (n)
  • 43.38 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7461 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 56 (a)
OneToOne
Species with no ortholog for CTNNBL1:
  • 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 Sequence Context AA Info Type MAF
rs171136 -- 37,791,388(+) ttgct(C/G)cacat intron-variant
rs238299 -- 37,775,494(-) GGGTG(C/T)CATAT intron-variant
rs238300 -- 37,776,305(+) GAAAT(A/G)ATACT intron-variant
rs238301 -- 37,776,355(+) ATAAA(A/T)CCAAT intron-variant
rs238302 -- 37,776,514(+) TTTAC(A/G)TGCCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1326e1 CNV Complex 17122850
nsv3371 CNV Insertion 18451855
esv2722391 CNV Deletion 23290073
esv271662 CNV Insertion 20981092
esv268096 CNV Insertion 20981092
nsv833970 CNV Gain 17160897
esv2661276 CNV Deletion 23128226

Relevant External Links for CTNNBL1 Gene

HapMap Linkage Disequilibrium report
CTNNBL1

Disorders for CTNNBL1 Gene

(1) MalaCards Diseases for CTNNBL1 Gene

Search for CTNNBL1 Gene in MalaCards »

Relevant External Links for CTNNBL1

Genetic Association Database (GAD)
CTNNBL1
Human Genome Epidemiology (HuGE) Navigator
CTNNBL1
genes like me logo Genes that share disorders with CTNNBL1: view

No data available for UniProtKB/Swiss-Prot 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.S. … Hering T.M. (Genomics 2003) 2 3 4 23
  2. 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 C.H. … Hansen T. (BMC Med. Genet. 2009) 3 23 49
  3. CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31. (PMID: 21385873) Ganesh K. … Neuberger M. (J. Biol. Chem. 2011) 2 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  5. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (PMID: 20712903) Morgan A.R. … Mitchell E.A. (BMC Med. Genet. 2010) 3 49

Products for CTNNBL1 Gene

Sources for CTNNBL1 Gene

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