InnateDB Protein
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IDBP-101831.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BCL9
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Protein Name
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B-cell CLL/lymphoma 9
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Synonyms
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LGS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000234739
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InnateDB Gene
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IDBG-101829 (BCL9)
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Protein Structure
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Function |
Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity). {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000250}.
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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.
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Tissue Specificity |
Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0014908
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myotube differentiation involved in skeletal muscle regeneration
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GO:0035019
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somatic stem cell maintenance
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GO:0035914
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skeletal muscle cell differentiation
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0060070
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canonical Wnt signaling pathway
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Cellular Component |
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PDB ID |
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InterPro |
IPR024670
B-cell lymphoma 9, beta-catenin binding domain
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PFAM |
PF11502
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O00512
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PhosphoSite |
PhosphoSite-O00512
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TrEMBL |
A0A024QYY4
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UniProt Splice Variant |
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Entrez Gene |
607
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UniGene |
Hs.415209
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RefSeq |
NP_004317
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HUGO |
HGNC:1008
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OMIM |
602597
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CCDS |
CCDS30833
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HPRD |
04000
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IMGT |
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EMBL |
AL359207
CH471223
Y13620
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GenPept |
CAA73942
CAI15198
EAW50932
EAW50933
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