Homo sapiens Protein: BCL9
Summary
InnateDB Protein IDBP-101831.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BCL9
Protein Name B-cell CLL/lymphoma 9
Synonyms LGS;
Species Homo sapiens
Ensembl Protein ENSP00000234739
InnateDB Gene IDBG-101829 (BCL9)
Protein Structure
UniProt Annotation
Function Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000250}.
Disease Associations Note=A chromosomal aberration involving BCL9 is found in a patient with precusor B-cell acute lymphoblastic leukemia (ALL). Translocation t(1;14)(q21;q32). This translocation leaves the coding region intact, but may have pathogenic effects due to alterations in the expression level of BCL9. Several cases of translocations within the 3'-UTR of BCL9 have been found in B-cell malignancies.
Tissue Specificity Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008013 beta-catenin binding
Biological Process
GO:0014908 myotube differentiation involved in skeletal muscle regeneration
GO:0035019 somatic stem cell maintenance
GO:0035914 skeletal muscle cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060070 canonical Wnt signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
Protein Structure and Domains
PDB ID
InterPro IPR024670 B-cell lymphoma 9, beta-catenin binding domain
PFAM PF11502
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O00512
PhosphoSite PhosphoSite-O00512
TrEMBL A0A024QYY4
UniProt Splice Variant
Entrez Gene 607
UniGene Hs.415209
RefSeq NP_004317
HUGO HGNC:1008
OMIM 602597
CCDS CCDS30833
HPRD 04000
IMGT
EMBL AL359207 CH471223 Y13620
GenPept CAA73942 CAI15198 EAW50932 EAW50933