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A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
P11274 [Direct mapping] Breakpoint cluster region protein
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Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002692 [negative regulation of cellular extravasation] GO:0004674 [protein serine/threonine kinase activity] GO:0004713 [protein tyrosine kinase activity] GO:0005085 [guanyl-nucleotide exchange factor activity] GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0005096 [GTPase activator activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0006468 [protein phosphorylation] GO:0007165 [signal transduction] GO:0007264 [small GTPase mediated signal transduction] GO:0007420 [brain development] GO:0014069 [postsynaptic density] GO:0016020 [membrane] GO:0016301 [kinase activity] GO:0018108 [peptidyl-tyrosine phosphorylation] GO:0019899 [enzyme binding] GO:0030036 [actin cytoskeleton organization] GO:0030054 [cell junction] GO:0030336 [negative regulation of cell migration] GO:0032496 [response to lipopolysaccharide] GO:0035023 [regulation of Rho protein signal transduction] GO:0035556 [intracellular signal transduction] GO:0042472 [inner ear morphogenesis] GO:0043114 [regulation of vascular permeability] GO:0043234 [protein complex] GO:0043314 [negative regulation of neutrophil degranulation] GO:0043547 [positive regulation of GTPase activity] GO:0045211 [postsynaptic membrane] GO:0046777 [protein autophosphorylation] GO:0048008 [platelet-derived growth factor receptor signaling pathway] GO:0050728 [negative regulation of inflammatory response] GO:0050766 [positive regulation of phagocytosis] GO:0050885 [neuromuscular process controlling balance] GO:0051056 [regulation of small GTPase mediated signal transduction] GO:0051726 [regulation of cell cycle] GO:0060313 [negative regulation of blood vessel remodeling] GO:0070062 [extracellular exosome]
P11274 [Direct mapping] Breakpoint cluster region protein
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Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
H0Y554 [Direct mapping] Breakpoint cluster region protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
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GO:0005085 [guanyl-nucleotide exchange factor activity] GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0005622 [intracellular] GO:0035023 [regulation of Rho protein signal transduction] GO:0035556 [intracellular signal transduction] GO:0043547 [positive regulation of GTPase activity]
A9UF01 [Direct mapping] BCR/ABL fusion protein isoform X8; Breakpoint cluster region protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
