Human Gene CTNNBL1 (ENST00000361383.11_7) from GENCODE V47lift37
  Description: catenin beta like 1, transcript variant 1 (from RefSeq NM_030877.5)
Gencode Transcript: ENST00000361383.11_7
Gencode Gene: ENSG00000132792.21_13
Transcript (Including UTRs)
   Position: hg19 chr20:36,322,432-36,500,520 Size: 178,089 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr20:36,322,525-36,500,415 Size: 177,891 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:36,322,432-36,500,520)mRNA (may differ from genome)Protein (563 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CTBL1_HUMAN
DESCRIPTION: RecName: Full=Beta-catenin-like protein 1; AltName: Full=Nuclear-associated protein; Short=NAP; AltName: Full=Testis development protein NYD-SP19;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Widely expressed with highest levels in skeletal muscle, placenta, heart, spleen, testis and thyroid.
SEQUENCE CAUTION: Sequence=AAQ15267.1; Type=Frameshift; Positions=96; Sequence=BAB14992.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CTNNBL1
Diseases sorted by gene-association score: sleep disorder (2), auditory agnosia (2), obesity (2), periodic limb movement disorder (2), papillary hidradenoma (1), hypophosphatemic rickets with hypercalciuria (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.15 RPKM in Testis
Total median expression: 439.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.8093-0.396 Picture PostScript Text
3' UTR -19.80105-0.189 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR013180 - DUF1716_euk

Pfam Domains:
PF08216 - Catenin-beta-like, Arm-motif containing nuclear

SCOP Domains:
48371 - ARM repeat
158622 - YheA/YmcA-like

ModBase Predicted Comparative 3D Structure on Q8WYA6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019899 enzyme binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0006915 apoptotic process
GO:0008380 RNA splicing
GO:0016445 somatic diversification of immunoglobulins
GO:0043065 positive regulation of apoptotic process

Cellular Component:
GO:0000974 Prp19 complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005737 cytoplasm
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC121005 - Homo sapiens catenin, beta like 1, mRNA (cDNA clone MGC:149632 IMAGE:40116943), complete cds.
BC121006 - Homo sapiens catenin, beta like 1, mRNA (cDNA clone MGC:149633 IMAGE:40116944), complete cds.
AF239607 - Homo sapiens nuclear associated protein mRNA, complete cds.
AK074663 - Homo sapiens cDNA FLJ90182 fis, clone MAMMA1000788, weakly similar to Bos taurus P14 (p14) mRNA.
AK130301 - Homo sapiens cDNA FLJ26791 fis, clone PRS04759.
AF370431 - Homo sapiens PP8304 mRNA, complete cds.
AK293420 - Homo sapiens cDNA FLJ53492 complete cds, highly similar to Beta-catenin-like protein 1.
AF367471 - Homo sapiens testes development-related NYD-SP19 mRNA, complete cds.
AK091216 - Homo sapiens cDNA FLJ33897 fis, clone CTONG2007970, highly similar to Bos taurus P14 (p14) mRNA.
BC036739 - Homo sapiens catenin, beta like 1, mRNA (cDNA clone IMAGE:5575697).
KJ902905 - Synthetic construct Homo sapiens clone ccsbBroadEn_12299 CTNNBL1 gene, encodes complete protein.
BC022802 - Homo sapiens, clone IMAGE:5443781, mRNA, partial cds.
AK024761 - Homo sapiens cDNA: FLJ21108 fis, clone CAS05257.
AK222592 - Homo sapiens mRNA for beta catenin-like 1 variant, clone: CAS05257.
JD563235 - Sequence 544259 from Patent EP1572962.
AF086002 - Homo sapiens full length insert cDNA clone YU62G06.
JD259205 - Sequence 240229 from Patent EP1572962.
JD514681 - Sequence 495705 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WYA6 (Reactome details) participates in the following event(s):

R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: B4DE16, C20orf33, CTBL1_HUMAN, ENST00000361383.1, ENST00000361383.10, ENST00000361383.2, ENST00000361383.3, ENST00000361383.4, ENST00000361383.5, ENST00000361383.6, ENST00000361383.7, ENST00000361383.8, ENST00000361383.9, NM_030877, PP8304, Q0VAL9, Q0VAM0, Q53HI8, Q5JWZ2, Q5JWZ3, Q5JWZ7, Q5JWZ8, Q8N454, Q8NCL2, Q8TBD6, Q8WYA6, Q96KD2, Q9H7A5, Q9NQF9, Q9NTX0, Q9Y3M7, uc318cat.1, uc318cat.2
UCSC ID: ENST00000361383.11_7
RefSeq Accession: NM_030877.5
Protein: Q8WYA6 (aka CTBL1_HUMAN or CNL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.