Human Gene BCL9L (ENST00000683865.1_7) from GENCODE V47lift37
  Description: BCL9 like, transcript variant 1 (from RefSeq NM_001378213.1)
Gencode Transcript: ENST00000683865.1_7
Gencode Gene: ENSG00000186174.13_16
Transcript (Including UTRs)
   Position: hg19 chr11:118,766,845-118,796,635 Size: 29,791 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr11:118,769,124-118,780,648 Size: 11,525 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:118,766,845-118,796,635)mRNA (may differ from genome)Protein (1499 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BCL9L_HUMAN
DESCRIPTION: RecName: Full=B-cell CLL/lymphoma 9-like protein; Short=B-cell lymphoma 9-like protein; Short=BCL9-like protein; AltName: Full=Protein BCL9-2;
FUNCTION: Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1 (By similarity).
SUBUNIT: Found in a complex with CDC73; CTNNB1 and PYGO1. Interacts with CTNNB1.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in breast, ductal and invasive ductal carcinomas of the breast, sporadic colorectal adenomas and carcinomas (at protein level). Expressed in fetal brain. Expressed in lung, amygdala, eye, prostate, pancreatic and prostate cancers, head and neck tumors and embryonal tumor.
DOMAIN: Tne C-terminal domain is important for its transactivation activity (By similarity).
SIMILARITY: Belongs to the BCL9 family.
SEQUENCE CAUTION: Sequence=AAH33257.1; Type=Erroneous initiation; Sequence=BAC85500.1; Type=Erroneous initiation; Sequence=BAC85512.1; 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


-  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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -393.30819-0.480 Picture PostScript Text
3' UTR -907.102279-0.398 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
IPR015668 - Bcl-9
IPR024670 - BCL9_beta-catenin-bd_dom

Pfam Domains:
PF11502 - B-cell lymphoma 9 protein

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2XB1 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q86UU0
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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity
GO:0008013 beta-catenin binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0022604 regulation of cell morphogenesis
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0035019 somatic stem cell population maintenance
GO:0035914 skeletal muscle cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060070 canonical Wnt signaling pathway
GO:1904837 beta-catenin-TCF complex assembly

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:1990907 beta-catenin-TCF complex


-  Descriptions from all associated GenBank mRNAs
  AB094091 - Homo sapiens DLNB11 mRNA, complete cds.
U84513 - Human velo-cardio-facial syndrome 22q11 region mRNA sequence.
AY296059 - Homo sapiens BCL9-2 mRNA, complete cds.
BC033257 - Homo sapiens B-cell CLL/lymphoma 9-like, mRNA (cDNA clone IMAGE:5457446), complete cds.
AK122650 - Homo sapiens cDNA FLJ16081 fis, clone NT2RI2006686, weakly similar to E1A-ASSOCIATED PROTEIN P300.
AK122882 - Homo sapiens cDNA FLJ16530 fis, clone OCBBF2021788, weakly similar to Homo sapiens mRNA for B-cell CLL/lymphoma 9.
BC156197 - Synthetic construct Homo sapiens clone IMAGE:100061610, MGC:190050 B-cell CLL/lymphoma 9-like (BCL9L) mRNA, encodes complete protein.
JD271282 - Sequence 252306 from Patent EP1572962.

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

Protein Q86UU0 (Reactome details) participates in the following event(s):

R-HSA-201712 Beta-catenin:TCF associates with BCL9 and PYGO
R-HSA-3364014 Recruitment of SET1 methyltransferase complex
R-HSA-3364026 SET1 complex trimethylates H3K4 at the MYC gene
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-195721 Signaling by WNT
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A1A4C1, BCL9L_HUMAN, DLNB11, NM_001378213, Q67FY1, Q6ZWJ0, Q6ZWK2, Q86UU0, uc330maj.1, uc330maj.2
UCSC ID: ENST00000683865.1_7
RefSeq Accession: NM_001378213.1
Protein: Q86UU0 (aka BCL9L_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.