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    BCR BCR activator of RhoGEF and GTPase [ Homo sapiens (human) ]

    Gene ID: 613, updated on 5-Sep-2021

    Summary

    Official Symbol
    BCRprovided by HGNC
    Official Full Name
    BCR activator of RhoGEF and GTPaseprovided by HGNC
    Primary source
    HGNC:HGNC:1014
    See related
    Ensembl:ENSG00000186716 MIM:151410
    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 unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
    Expression
    Ubiquitous expression in testis (RPKM 14.9), brain (RPKM 14.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BCR in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (23180509..23318037)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23522696..23660224)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene radial spoke head 14 homolog Neighboring gene RAB36-BCR intergenic enhancer-blocking element 22-1 Neighboring gene BCR pseudogene 8 Neighboring gene BCR-ABL minor-breakpoint cluster region Neighboring gene BCR-ABL p195 breakpoint cluster region Neighboring gene RNA, 7SL, cytoplasmic 263, pseudogene Neighboring gene BCR-ABL p200 breakpoint cluster region Neighboring gene F-box and WD repeat domain containing 4 pseudogene 1 Neighboring gene uncharacterized LOC107985554 Neighboring gene BCR-ABL major-breakpoint cluster region Neighboring gene BCR-ABL p225 breakpoint cluster region Neighboring gene BCR-ABL micro-breakpoint cluster region Neighboring gene POM121 transmembrane nucleoporin like 11, pseudogene Neighboring gene long intergenic non-protein coding RNA 2556 Neighboring gene ribosomal protein S10 pseudogene 30

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Acute lymphoid leukemia
    MedGen: C0023449 OMIM: 613065 GeneReviews: Not available
    Compare labs
    Chronic myelogenous leukemia, BCR-ABL1 positive
    MedGen: C0023473 OMIM: 608232 GeneReviews: Not available
    Compare labs
    Genome-wide association study of antibody response to smallpox vaccine.
    GeneReviews: Not available
    Many sequence variants affecting diversity of adult human height.
    GeneReviews: Not available

    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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ16453

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in glutamatergic synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in postsynaptic density, intracellular component IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    breakpoint cluster region protein
    Names
    BCR, RhoGEF and GTPase activating protein
    BCR/FGFR1 chimera protein
    FGFR1/BCR chimera protein
    breakpoint cluster region
    renal carcinoma antigen NY-REN-26
    NP_004318.3
    NP_067585.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009244.2 RefSeqGene

      Range
      5145..142673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1112

    mRNA and Protein(s)

    1. NM_004327.4NP_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
      ENSP00000303507.8, ENST00000305877.13
      Conserved Domains (6) summary
      cd08686
      Location:9131033
      C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
      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
      pfam00621
      Location:502690
      RhoGEF; RhoGEF domain
      pfam07001
      Location:81174
      BAT2_N; BAT2 N-terminus
      pfam09036
      Location:375
      Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerization domain
    2. NM_021574.3NP_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
      ENSP00000352535.3, ENST00000359540.7
      Conserved Domains (6) summary
      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
      pfam00621
      Location:502690
      RhoGEF; RhoGEF domain
      pfam07001
      Location:81174
      BAT2_N; BAT2 N-terminus
      pfam09036
      Location:375
      Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerization domain
      cl14603
      Location:913989
      C2; C2 domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      23180509..23318037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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