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UniProt functional annotation for O00512 | ||
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| UniProt code: O00512. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity). {ECO:0000250, ECO:0000269|PubMed:11955446}. |
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| Subunit: | |
Binds to beta-catenin (CTNNB1), PYGO1 and PYGO2; the interaction with PYGO1 increases PYGO1 affinity to histone H3 methylated at 'Lys 4'. {ECO:0000269|PubMed:17052462, ECO:0000269|PubMed:18498752}. |
| Subcellular location: | |
Nucleus {ECO:0000250}. |
| Tissue specificity: | |
Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood. |
| Disease: | |
Note=A chromosomal aberration involving BCL9 is found in a patient with precursor 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. {ECO:0000269|PubMed:9490669}. |
| Similarity: | |
Belongs to the BCL9 family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=CAA73942.1; Type=Frameshift; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.