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    BCR breakpoint cluster region [ Homo sapiens ]

    Gene ID: 613, updated on 14-May-2012

    Summary

    Official Symbol
    BCRprovided by HGNC
    Official Full Name
    breakpoint cluster regionprovided by HGNC
    Primary source
    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; FLJ16453
    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]

    Genomic context

    Location :
    22q11.23
    Sequence :
    Chromosome: 22; NC_000022.10 (23522552..23660224)

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene rhabdoid tumor deletion region gene 1 Neighboring gene guanine nucleotide binding protein (G protein), alpha z polypeptide 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 ribosomal protein S10 pseudogene 30 Neighboring gene carboxylesterase 5A pseudogene 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    AAA35594.1 NP_004318.2 BCR    BIND  PubMed p210 Bcr-Abl phosphorylates p160 Bcr. 
    AAA35594.1 NP_002077.1 GRB2    BIND  PubMed Grb2 interacts with Bcr-Abl. 
    AAA35594.1 NP_002077.1 GRB2    BIND  PubMed Tyrosine phosphorylated Bcr-Abl interacts with Grb2. 
    AAA35594.1 NP_002825.3 PTPN11    BIND  PubMed Phosphorylated p210bcr-abl interacts with phosphorylated Syp. This interaction was modeled on a demonstrated interaction between human p210bcr-abl and mouse Syp. 
    NP_004318.2 NP_009297.1 ABL1    BIND  PubMed BCR interacts with c-Abl. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and human c-Abl. 
    NP_004318.2 NP_009298.1 ABL2    BIND  PubMed BCR interacts with ARG. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and human ARG. 
    NP_004318.2 NP_002651.2 PLCG1    BIND  PubMed BCR interacts with PLCgamma1. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and bovine PLCgamma1. 
    NP_004318.2 NP_002881.1 RASA1    BIND  PubMed BCR interacts with GAP. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and human GAP. 
    NP_004318.2 NP_005408.1 SRC    BIND  PubMed BCR interacts with Src. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and Src from Rous Sarcoma virus. 
    P11274 P00519 ABL1    HPRD  PubMed  
    P11274 P42684 ABL2    HPRD  PubMed  
    P11274 O96018 APBA3    HPRD  PubMed  
    P11274 P11274 BCR    HPRD  PubMed  
    P11274 P51451 BLK    HPRD  PubMed  
    P11274 P46108 CRK    HPRD  PubMed  
    P11274 P46109 CRKL    HPRD  PubMed  
    P11274 Q12959 DLG1    HPRD  PubMed  
    P11274 P19447 ERCC3    HPRD  PubMed  
    P11274 P07332 FES    HPRD  PubMed  
    P11274 Q13322 GRB10    HPRD  PubMed  
    P11274 P62993 GRB2    HPRD  PubMed  
    P11274 P08631 HCK    HPRD  PubMed  
    P11274 P20823 HNF1A    HPRD  PubMed  
    P11274 Q96ID5 IGSF21    HPRD  PubMed  
    P11274 P35568 IRS1    HPRD  PubMed  
    P11274 O60674 JAK2    HPRD  PubMed  
    P11274 Q9Y4K4 MAP4K5    HPRD  PubMed  
    P11274 P55196 MLLT4    HPRD  PubMed  
    P11274 P19174 PLCG1    HPRD  PubMed  
    P11274 P18031 PTPN1    HPRD  PubMed  
    P11274 Q06124 PTPN11    HPRD  PubMed  
    P11274 P29350 PTPN6    HPRD  PubMed  
    P11274 P20936 RASA1    HPRD  PubMed  
    P11274 P31947 SFN    HPRD  PubMed  
    P11274 P29353 SHC1    HPRD  PubMed  
    P11274 P12931 SRC    HPRD  PubMed  
    P11274 P04637 TP53    HPRD  PubMed  
    P11274 Q13432 UNC119    HPRD  PubMed  
    P11274 P15498 VAV1    HPRD  PubMed  
    P11274 P31946 YWHAB    HPRD  PubMed  
    P11274 P62258 YWHAE    HPRD  PubMed  
    P11274 P61981 YWHAG    HPRD  PubMed  
    P11274 Q04917 YWHAH    HPRD  PubMed  
    P11274 P27348 YWHAQ    HPRD  PubMed  
    P11274 P63104 YWHAZ    HPRD  PubMed  
    BioGRID:107083 BioGRID:106543 ABL1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:107083 BioGRID:107315 CBL    BioGRID  PubMed Biochemical Activity; Co-purification 
    BioGRID:107083 BioGRID:107433 CDC42    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107083 BioGRID:107789 CRKL    BioGRID  PubMed Affinity Capture-Western; Far Western; Two-hybrid 
    BioGRID:107083 BioGRID:108383 ERCC3    BioGRID  PubMed Affinity Capture-MS; Far Western; Two-hybrid 
    BioGRID:107083 BioGRID:108533 FES    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:107083 BioGRID:115181 GAB2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107083 BioGRID:109144 GRB10    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:107083 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-Western; Far Western; Reconstituted Complex; Two-hybrid 
    BioGRID:107083 BioGRID:200045 Grb10    BioGRID  PubMed Two-hybrid 
    BioGRID:107083 BioGRID:109305 HCK    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107083 BioGRID:109445 HOXA9    BioGRID  PubMed Phenotypic Enhancement 
    BioGRID:107083 BioGRID:109552 HSP90AA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107083 BioGRID:109544 HSPA8    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:107083 BioGRID:124396 IGSF21    BioGRID  PubMed Two-hybrid 
    BioGRID:107083 BioGRID:109777 IL3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107083 BioGRID:109847 INPP5D    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107083 BioGRID:110015 KIT    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107083 BioGRID:110447 MLLT4    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:107083 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107083 BioGRID:111312 PIK3CG    BioGRID  PubMed Affinity Capture-Western; Co-purification; Two-hybrid 
    BioGRID:107083 BioGRID:111742 PTPN6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107083 BioGRID:111787 PXN    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:107083 BioGRID:111817 RAC1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107083 BioGRID:111860 RB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107083 BioGRID:106880 RHOA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107083 BioGRID:112537 SOS1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107083 BioGRID:115563 STUB1    BioGRID  PubMed Biochemical Activity 
    BioGRID:107083 BioGRID:112949 TLN1    BioGRID  PubMed Co-purification 
    BioGRID:107083 BioGRID:113010 TP53    BioGRID  PubMed Two-hybrid 
    BioGRID:107083 BioGRID:113102 TSG101    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:107083 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:107083 BioGRID:114548 UNC119    BioGRID  PubMed Two-hybrid 
    BioGRID:107083 BioGRID:119341 VPS28    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107083 BioGRID:121649 WDR48    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • 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...
    • 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 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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Rac GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Rho guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    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
     
    negative regulation of cell migration 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
     
    positive regulation of GTPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    breakpoint cluster region protein
    Names
    breakpoint cluster region protein
    renal carcinoma antigen NY-REN-26
    NP_004318.3
    NP_067585.2

    NCBI Reference Sequences (RefSeq)

    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

      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 (7) summary
      cd00160
      Location:499689
      Blast Score: 319
      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
      Blast Score: 806
      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, ...
      pfam09036
      Location:272
      Blast Score: 353
      Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerisation domain
      cd08686
      Location:9131033
      Blast Score: 570
      C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
      cd01228
      Location:707767
      Blast Score: 306
      PH_BCR-related; BCR (breakpoint cluster region)-related pleckstrin homology (PH) domain
      smart00324
      Location:10671230
      Blast Score: 431
      RhoGAP; GTPase-activator protein for Rho-like GTPases
      cl00273
      Location:830867
      Blast Score: 178
      PH-like; Pleckstrin homology-like domain
    2. NM_021574.2NP_067585.2  breakpoint cluster region protein isoform 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 (7) summary
      cd00160
      Location:499689
      Blast Score: 321
      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
      Blast Score: 806
      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, ...
      pfam09036
      Location:272
      Blast Score: 354
      Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerisation domain
      cd01228
      Location:707767
      Blast Score: 306
      PH_BCR-related; BCR (breakpoint cluster region)-related pleckstrin homology (PH) domain
      smart00324
      Location:10231186
      Blast Score: 431
      RhoGAP; GTPase-activator protein for Rho-like GTPases
      cl00273
      Location:830867
      Blast Score: 178
      PH-like; Pleckstrin homology-like domain
      cl14603
      Location:913989
      Blast Score: 333
      C2; C2 domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000022.10 Reference GRCh37.p5 Primary Assembly

      Range
      23522552..23660224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      6461675..6627574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic CH471095.1 EAW59564.1
      EAW59565.1
      EAW59566.1
      EAW59567.1
      EAW59568.1
      EAW59569.1
      EAW59570.1
    genomic L02935.1 None
    genomic M15025.1 AAA35594.1
    genomic M55395.1 None
    genomic U07000.1 AAB60388.1
      AAB60389.1
      AAB60390.1
    genomic X52828.1 CAA37010.1
    genomic X52829.1 CAA37011.1
    mRNA AB209991.1 BAE06073.1
    mRNA AF192533.1 AAF61858.1
    mRNA AF487522.1 AAL99544.1
    mRNA AK122842.1 None
    mRNA AK124310.1 None
    mRNA AK128501.1 None
    mRNA AK303241.1 BAG64327.1
    mRNA AM491360.1 CAM33010.1
    mRNA AY533677.1 AAS57923.1
    mRNA AY536245.1 AAS46907.1
    mRNA AY536246.1 AAS46908.1
    mRNA AY536247.1 AAS46909.1
    mRNA AY536248.1 AAS46910.1
    mRNA AY536249.1 AAS46911.1
    mRNA AY536250.1 AAS46912.1
    mRNA BC031568.1 None
    mRNA BC041705.1 None
    mRNA BC053641.1 None
    mRNA BC063619.1 None
    mRNA BC066122.1 None
    mRNA BC071742.1 None
    mRNA BC083493.1 AAH83493.1
    mRNA BQ422888.1 None
    mRNA EU216058.1 ABX82700.1
    mRNA EU216059.1 ABX82701.1
    mRNA EU216061.1 ABX82703.1
    mRNA EU216062.1 ABX82704.1
    mRNA EU216063.1 ABX82705.1
    mRNA EU216064.1 ABX82706.1
    mRNA EU216067.1 ABX82709.1
    mRNA EU216069.1 ABX82711.1
    mRNA EU216070.1 ABX82712.1
    mRNA EU394718.1 ABZ01959.1
    mRNA HQ622706.1 ADU04570.1
    mRNA M17542.1 AAA35595.1
    mRNA M64437.1 AAN76489.1
    mRNA X02596.1 CAA26441.1
    mRNA X06418.1 CAA29726.1
    mRNA X14676.1 CAA32806.1
    mRNA Y00661.1 CAA68676.1
    other-genetic BC169208.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11274.2 GenPept UniProtKB/Swiss-Prot:P11274
    Q12843 GenPept UniProtKB/TrEMBL:Q12843
    Q12844 GenPept UniProtKB/TrEMBL:Q12844
    Q13746 GenPept UniProtKB/TrEMBL:Q13746
    Q16189 GenPept UniProtKB/TrEMBL:Q16189
    Q6QJE3 GenPept UniProtKB/TrEMBL:Q6QJE3
    Q6QJE4 GenPept UniProtKB/TrEMBL:Q6QJE4
    Q6QJE5 GenPept UniProtKB/TrEMBL:Q6QJE5
    Q6QJE6 GenPept UniProtKB/TrEMBL:Q6QJE6
    Q6QJE7 GenPept UniProtKB/TrEMBL:Q6QJE7
    Q6QJE8 GenPept UniProtKB/TrEMBL:Q6QJE8
    Q6QME9 GenPept UniProtKB/TrEMBL:Q6QME9
    Q8TDA2 GenPept UniProtKB/TrEMBL:Q8TDA2

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