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    BCR breakpoint cluster region [ Homo sapiens (human) ]

    Gene ID: 613, updated on 17-Apr-2016
    Official Symbol
    BCRprovided by HGNC
    Official Full Name
    breakpoint cluster regionprovided by HGNC
    Primary source
    HGNC:HGNC:1014
    See related
    Ensembl:ENSG00000186716 HPRD:01044; MIM:151410; Vega:OTTHUMG00000150655
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALL; CML; PHL; BCR1; D22S11; D22S662
    Summary
    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]
    Orthologs
    Location:
    22q11.23
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (23180365..23318037)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23522402..23660224)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene l(3)mbt-like 4 (Drosophila) pseudogene Neighboring gene RAB36, member RAS oncogene family Neighboring gene breakpoint cluster region pseudogene 8 Neighboring gene F-box and WD repeat domain containing 4 pseudogene 1 Neighboring gene POM121 transmembrane nucleoporin like 11, pseudogene Neighboring gene uncharacterized LOC102724679 Neighboring gene ribosomal protein S10 pseudogene 30

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Acute lymphoid leukemia
    MedGen: C0023449 OMIM: 613065 GeneReviews: Not available
    Compare labs
    Chronic myeloid leukemia
    MedGen: C0023473 OMIM: 608232 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-07-10)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-10)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of antibody response to smallpox vaccine.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of breakpoint cluster region (BCR) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
      Chronic myeloid leukemia, organism-specific biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
    • Chronic myeloid leukemia, conserved biosystem (from KEGG)
      Chronic myeloid leukemia, conserved biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • FGFR1 mutant receptor activation, organism-specific biosystem (from REACTOME)
      FGFR1 mutant receptor activation, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Regulation of RAC1 activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RAC1 activity, organism-specific biosystem
      Regulation of RAC1 activity
    • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RhoA activity, organism-specific biosystem
      Regulation of RhoA activity
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by FGFR in disease, organism-specific biosystem (from REACTOME)
      Signaling by FGFR in disease, organism-specific biosystemA number of skeletal and developmental diseases have been shown to arise as a result of mutations in the FGFR1, 2 and 3 genes. These include dwarfism syndromes (achondroplasia, hypochondroplasia and...
    • Signaling by FGFR1 fusion mutants, organism-specific biosystem (from REACTOME)
      Signaling by FGFR1 fusion mutants, organism-specific biosystem8p11 myeloproliferative syndrome (EMS) is an aggressive disorder that is associated with a translocation event at the FGFR1 gene on chromosome 8p11. Typical symptoms upon diagnosis include eosinophi...
    • Signaling by FGFR1 in disease, organism-specific biosystem (from REACTOME)
      Signaling by FGFR1 in disease, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ16453

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    Rho guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    kinase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cellular extravasation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neutrophil degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine phosphorylation TAS
    Traceable Author Statement
    more info
     
    platelet-derived growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    protein autophosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    regulation of vascular permeability IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    breakpoint cluster region protein
    Names
    BCR/FGFR1 chimera protein
    FGFR1/BCR chimera protein
    renal carcinoma antigen NY-REN-26
    NP_004318.3
    NP_067585.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009244.1 RefSeqGene

      Range
      5001..142673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004327.3NP_004318.3  breakpoint cluster region protein isoform 1

      See identical proteins and their annotated locations for NP_004318.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC066122, BQ422888, U07000, X02596
      Consensus CDS
      CCDS13806.1
      UniProtKB/Swiss-Prot
      P11274
      Related
      ENSP00000303507, OTTHUMP00000028949, ENST00000305877, OTTHUMT00000075819
      Conserved Domains (6) summary
      pfam09036
      Location:272
      Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerization domain
      cd08686
      Location:9131033
      C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
      cd00160
      Location:499689
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd04387
      Location:10521252
      RhoGAP_Bcr; RhoGAP_Bcr: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, ...
      cd13367
      Location:684877
      PH_BCR_vertebrate; Breakpoint Cluster Region-related pleckstrin homology (PH) domain
      cl00506
      Location:96168
      Haemolytic; Haemolytic domain
    2. NM_021574.2NP_067585.2  breakpoint cluster region protein isoform 2

      See identical proteins and their annotated locations for NP_067585.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BC066122, BQ422888, U07000, Y00661
      Consensus CDS
      CCDS13807.1
      UniProtKB/Swiss-Prot
      P11274
      Related
      ENSP00000352535, OTTHUMP00000067895, ENST00000359540, OTTHUMT00000140135
      Conserved Domains (6) summary
      pfam09036
      Location:272
      Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerization domain
      cd00160
      Location:499689
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd04387
      Location:10081208
      RhoGAP_Bcr; RhoGAP_Bcr: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, ...
      cd13367
      Location:684877
      PH_BCR_vertebrate; Breakpoint Cluster Region-related pleckstrin homology (PH) domain
      cl14603
      Location:913989
      C2; C2 domain
      cl00506
      Location:96168
      Haemolytic; Haemolytic domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      23180365..23318037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      23534806..23672427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)