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FLASH GENE
Symbol BCR contributors: mct/npt - updated : 21-05-2011
HGNC name breakpoint cluster region
HGNC id 1014
Corresponding disease
BCR-ABL Philadelphia chromosome
DEL22Q11D chromosome 22q11.2 microdeletion syndrome, distal to the DG/VCF typically deleted region
Location 22q11.23      Physical location : 23.522.551 - 23.660.223
Synonym name bcr-abl1 e14a3 chimeric protein
Synonym symbol(s) ALL, CML, PHL, D22S11, D22S662, BCR-ABL1, BCR1, FLJ16453
EC.number 2.7.11.1
DNA
TYPE functioning gene
STRUCTURE 137.67 kb     23 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
RTDR1 22q11.2 rhabdoid tumor deletion region gene 1 GNAZ 22q11.22 guanine nucleotide binding protein (G protein), alpha z polypeptide RAB36 22q11.2 RAB36, member RAS oncogene family BCR 22q11.23 breakpoint cluster region FBXW3 22q11 F-box and WD-40 domain protein 3 LOC343851 22q11.23 similar to hypothetical protein FLJ31547
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
23 splicing 6927 160 1271 - 2000 11069024
22 splicing 6795 130 1227 - 2000 11069024
- - - 210 - - 2000 11069024
- - - 40 - - 2009 19876398
  • increased proliferation of early progenitors and the short term stem cell capacity of stem-cells and exhibited own leukemogenic potential
  • - - - 96 - - 2009 19876398
    increased proliferation of early progenitors and the short term stem cell capacity of stem-cells and exhibited own leukemogenic potential
    EXPRESSION
    Rna function BCR mRNAs are abundantly expressed in the brain
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
    Nervousbrain   highly Homo sapiens
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Nervouscentral  highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a region of homology to GDP-GTP exchangers like CDC24, for Rac and Rho (Arh) proteins, (signal transduction)
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • BCR and its close relative active BCR-related (ABR) localize at excitatory synapses
  • basic FUNCTION
  • promoting the exchange of RAC or CDC42-bound GDP by GTP thereby activating them
  • displaying serine/threonine kinase activity
  • PCAF and BCR signalling are essential for apoptotic cell death (PCAF and BCR signalling control cooperatively pre-mature B cell apoptosis via both depletions of DFFA and BIRC2)
  • ABR and BCR are the only GTPase-activating proteins to date that specifically negatively regulate Rac function in primary macrophages
  • BCR and ABR cooperate in negatively regulating acute inflammatory responses
  • represses the expression of PEBP1, continuously activates pERK1/2, and suppresses FOXM1 expression, resulting in proliferation of CML cells (
  • BCR-ABL increases FBXO5 phosphorylation and stability to prevent SKP2 protein degradation via APC/CDH1-induced ubiquitination and to enhance proliferation of CML cells
  • functional interaction between BCR-ABL and mitosis dysfunctions, due to compromised mitotic checkpoints, may have important implications for the generation of aneuploidy and CML progression
  • BCR and ABR have novel roles in the regulation of synaptic Rac1 signaling, synaptic plasticity, and learning and memory, and that excessive Rac1 activity negatively affects synaptic and cognitive functions
  • also acts via PPARG independent signaling
  • a RAC1 GTPase-activating protein that plays a key role in neuronal development
  • is involved in the regulation of neuronal development via control of the BCR GTPase-activating domain function by PTPRT
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • proximal BCR-ABL1 signaling network shows a modular and layered organization with an inner core of three leukemia transformation-relevant adaptor protein complexes (GRB2/GAB2/SHC1 complex, CRK complex and DOK1/DOK2 complex)
  • BCR-ABL1 suppresses autophagy through ATF5-mediated regulation of MTOR transcription
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding of the adaptor protein GRB2 to Tyr177 of BCR-ABL1 is crucial for the leukemic transformation of cells by BCR-ABL1
  • TGM2 bound to the Rac-binding pocket in the GTPase-activating domains of BCR and ABR, blocked BCR activity and, through this mechanism, increased levels of active GTP-bound Rac and EGF-stimulated membrane ruffling
  • BCR-ABL fusion oncogene frequently found in chronic myeloid leukemia (CML) cells can up-regulate SKP2 expression via transcriptional activation
  • directly interact with DLG4, an abundant postsynaptic scaffolding protein
  • binds to DDX39B and binding of DDX39B to BCR is critical for BCR induced DNA synthesis in vascular smooth muscle cells (VSMC)
  • DDX329B/BCR interaction is important for BCR induced DNA synthesis
  • signaling cascades driven by the BCR and TLR9 have a newly identified meeting point at TBX21(
  • cell & other
    REGULATION
    Other functional involvement of LRRK1 in the balance of BCR-ABL1-mediated MAP-kinase signaling
    Janus kinase 2 regulates BCR-ABL signaling in chronic myeloid leukemia
    function of the BCR GTPase-activating domain could be modulated by protein tyrosine phosphatase receptor T (PTPRT), which is expressed principally in the brain
    ASSOCIATED DISORDERS
    corresponding disease(s) BCR-ABL , DEL22Q11D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    BCR-JAK2 fusion result of a t(9;22)(p24;q11.2) translocation in chronic myeloid leukemia
    tumoral fusion      
    fused with FGFR1 in t(8;22) (p11;q11) in myelo proliferative disorder and with PDGFRA in t(4;22) (q12;q11) in atypical chronic myeloid leukemia
    tumoral fusion      
    with ABL1, in reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquired 
    BCR/DDX39B interaction may be a target for inhibiting pathological VSMC proliferation
    ANIMAL & CELL MODELS