Free for academic non-profit institutions. Other users need a Commercial license
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 diversific... See more...
Aliases for CTNNBL1 Gene
Aliases for CTNNBL1 Gene
External Ids for CTNNBL1 Gene
- HGNC: 15879
- Entrez Gene: 56259
- Ensembl: ENSG00000132792
- OMIM: 611537
- UniProtKB: Q8WYA6
Previous HGNC Symbols for CTNNBL1 Gene
- C20orf33
Previous GeneCards Identifiers for CTNNBL1 Gene
- GC20P036050
- GC20P036960
- GC20P037007
- GC20P035755
- GC20P036322
- GC20P033058
Summaries 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 Slate Pneumoconiosis and Congenital Bile Acid Synthesis Defect. 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 Summary 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.
Additional gene information for CTNNBL1 Gene
- HGNC(15879)
- Entrez Gene(56259)
- Ensembl(ENSG00000132792)
- OMIM(611537)
- UniProtKB(Q8WYA6)
- Open Targets Platform(ENSG00000132792)
- Search for CTNNBL1 at DataMed
- Search for CTNNBL1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTNNBL1 Gene
Genomics for CTNNBL1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CTNNBL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CTNNBL1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTNNBL1
- Top Transcription factor binding sites by QIAGEN in the CTNNBL1 gene promoter:
-
- CBF-B
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- Elk-1
- Sp1
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)
- Size:
- 178,124 bases
- Orientation:
- Plus strand
Genomic View for CTNNBL1 Gene
Genes around CTNNBL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q11.23 by HGNC
- 20q11.23 by Entrez Gene
- 20q11.23 by Ensembl
CTNNBL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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; Evidence={ECO:0000305}; Sequence=BAB14992.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for CTNNBL1 Gene
Protein Expression for CTNNBL1 Gene
Post-translational modifications for CTNNBL1 Gene
Other Protein References for CTNNBL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences CTNNBL1 / NAP Antibody (LS-B7040) and CTNNBL1 / NAP Antibody (LS-B14440)
- G Biosciences Immunotag™ CTNNBL1 Antibody
- HUABIO Anti-CTNNBL1 Antibody
- Novus Biologicals Antibodies for CTNNBL1
-
Abcam antibodies for CTNNBL1
- Invitrogen Antibodies for CTNNBL1 (AFLGC-CTNNBL1)
-
Boster Bio Antibodies for CTNNBL1
-
Custom Antibody ServicesProSci Antibodies for CTNNBL1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CTNNBL1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CTNNBL1
- Origene Custom Protein Services for CTNNBL1
-
Signalway Proteins for CTNNBL1
-
Abcam proteins for CTNNBL1
Assay Products
- antibodies-online: Show 7 available CTNNBL1 Elisa Kits ranked by validation data
- Compare Top CTNNBL1 Elisa Kits
-
Quality Products:
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CTNNBL1 Gene
- GenScript: Design optimal peptide antigens:
-
- Testis development protein NYD-SP19 (CTBL1_HUMAN)
- Catenin, beta like 1 (Q0VAM0_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8WYA6UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 18722174 |
| GO:0019899 | enzyme binding | IPI | 18722174 |
Phenotypes for CTNNBL1 Gene
- MGI mutant phenotypes for CTNNBL1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for CTNNBL1:
-
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability ratio
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased Nanog expression
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in ovarian lineage
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP)
- Increased cell number in S
- Many micronuclei (grape), decreased viability (cell death)
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP), many micronuclei (grape), decreased viability (cell death)
Animal Models for CTNNBL1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CTNNBL1 - Select products 50% OFF >
- * CTNNBL1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CTNNBL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CTNNBL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CTNNBL1
miRNA for CTNNBL1 Gene
- miRTarBase miRNAs that target CTNNBL1
-
- hsa-miR-155-5p (MIRT020731)
- hsa-miR-1229-3p (MIRT036306)
- hsa-miR-320a (MIRT044639)
- hsa-miR-149-5p (MIRT045603)
- hsa-miR-92a-3p (MIRT049224)
- hsa-miR-25-3p (MIRT050320)
- hsa-miR-129-5p (MIRT639443)
- hsa-miR-4482-3p (MIRT639444)
- hsa-miR-7159-3p (MIRT639445)
- hsa-miR-4715-3p (MIRT639446)
- hsa-miR-4775 (MIRT639447)
- hsa-miR-661 (MIRT639448)
- hsa-miR-3116 (MIRT639449)
- hsa-miR-1254 (MIRT639450)
- hsa-miR-664a-5p (MIRT639451)
- hsa-miR-4794 (MIRT639452)
- hsa-miR-138-2-3p (MIRT639453)
- hsa-miR-4735-5p (MIRT639454)
- hsa-miR-6872-3p (MIRT639455)
- hsa-miR-590-3p (MIRT639456)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CTNNBL1
- Browse OriGene Inhibitory RNA Products For CTNNBL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNNBL1
Clone Products
- Applied Biological Materials (abm): Clones for CTNNBL1 - Select products 50% OFF >
- * CTNNBL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CTNNBL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CTNNBL1
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 4 |
| cytosol | 4 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Nucleoplasm (4)
- Centrosome (2)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000974 | Prp19 complex | IDA | 15175653 |
| GO:0005634 | nucleus | IEA,IDA | 12659813 |
| GO:0005654 | nucleoplasm | IDA,TAS | -- |
| GO:0005681 | spliceosomal complex | IBA,IDA | 20176811 |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for CTNNBL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mRNA Splicing - Major Pathway |
.79
|
.47
|
| 2 | Gene Expression |
.48
|
|
Pathways by source for CTNNBL1 Gene
4 Reactome pathways for CTNNBL1 Gene
1 KEGG pathway for CTNNBL1 Gene
Interacting Proteins for CTNNBL1 Gene
Selected Interacting proteins:
Q8WYA6-CTBL1_HUMAN
ENSP00000355050
for CTNNBL1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CTNNBL1
| 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 |
No data available for SIGNOR curated interactions for CTNNBL1 Gene
Transcripts for CTNNBL1 Gene
mRNA/cDNA for CTNNBL1 Gene
- 2 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000361383 1890 nts (view in UCSC)
- ENST00000447935 778 nts (view in UCSC)
- ENST00000628103 1958 nts (view in UCSC)
- ENST00000373473 1493 nts (view in UCSC)
- ENST00000473857 2990 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CTNNBL1 - Select products 50% OFF >
- * CTNNBL1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CTNNBL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CTNNBL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CTNNBL1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CTNNBL1
- Browse OriGene Inhibitory RNA Products For CTNNBL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNNBL1
Clone Products
- Applied Biological Materials (abm): Clones for CTNNBL1 - Select products 50% OFF >
- * CTNNBL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CTNNBL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CTNNBL1
| 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
Expression for CTNNBL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Crest (Gastrulation Derivatives)
This gene is overexpressed in Blymphocyte (9.9) and Spleen (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTNNBL1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTNNBL1
SOURCE GeneReport for Unigene cluster for CTNNBL1 Gene:
Hs.472667mRNA 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
- Liver(4.6)
- Skin(4.6)
- Muscle(4.5)
- Nervous system(4.2)
- Lung(3.5)
- Kidney(2.7)
- Spleen(2.6)
- Intestine(2.6)
- Heart(2.5)
- Lymph node(2.1)
Primer Products
-
OriGene qPCR primer pairs for CTNNBL1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CTNNBL1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CTNNBL1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CTNNBL1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CTNNBL1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ctnnbl1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ctnnbl1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CTNNBL1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CTNNBL1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CTNNBL1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ctnnbl1 30 |
|
||
| MGC76112 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13755 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ctnnbl1 30 31 |
|
OneToOne | |
| zgc77673 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10806 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG11964 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001357 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | M01E11.2 30 31 32 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G02710 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0831300 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7461 30 |
|
- Species where no ortholog for CTNNBL1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CTNNBL1: view image
Paralogs for CTNNBL1 Gene
Pseudogenes.org Pseudogenes for CTNNBL1 Gene
No data available for Paralogs for CTNNBL1 Gene
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNNBL1 Gene
Disorders for CTNNBL1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| slate pneumoconiosis |
|
|
| congenital bile acid synthesis defect |
|
|
Search CTNNBL1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CTNNBL1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CTNNBL1 Gene
Publications for CTNNBL1 Gene
- 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 23
- 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
- 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 23 41
- 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
- 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
ExternalLinks
Products for CTNNBL1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for CTNNBL1
- Origene Custom Protein Services for CTNNBL1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CTNNBL1
- Browse OriGene Inhibitory RNA Products For CTNNBL1
- OriGene qPCR primer pairs for CTNNBL1
- OriGene CRISPR knockouts for CTNNBL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CTNNBL1
- Sino Biological Human cDNA Clone for CTNNBL1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CTNNBL1
- Novus Biologicals proteins and lysates for CTNNBL1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CTNNBL1
- Abcam proteins for CTNNBL1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for CTNNBL1 (AFLGC-CTNNBL1)
- VectorBuilder Custom and pre-made DNA vectors for CTNNBL1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CTNNBL1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CTNNBL1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CTNNBL1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CTNNBL1
- antibodies-online: Show 20 available CTNNBL1 Antibodies ranked by validation data
- Compare Top CTNNBL1 Antibodies
- antibodies-online: Show 7 available CTNNBL1 Elisa Kits ranked by validation data
- Compare Top CTNNBL1 Elisa Kits
- Quality Products:
- antibodies-online: Show 5 available CTNNBL1 Proteins ranked by validation data
- Compare Top CTNNBL1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for CTNNBL1
- Search Santa Cruz Biotechnology (SCBT) for CTNNBL1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CTNNBL1
- Custom Antibody ServicesProSci Antibodies for CTNNBL1
- Search for CTNNBL1 Proteins at ProSci
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CTNNBL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CTNNBL1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CTNNBL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNNBL1
- Boster Bio Antibodies for CTNNBL1
- Browse Boster Bio ELISA Kits
- Signalway Proteins for CTNNBL1
Sources for CTNNBL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB