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BCR breakpoint cluster region [ Homo sapiens (human) ]

Gene ID: 613, updated on 26-Aug-2014
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
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]
Location:
22q11.23
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 RAB36, member RAS oncogene family Neighboring gene l(3)mbt-like 4 (Drosophila) pseudogene 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)

ISCA Genome Curation Page
Triplosensitivity

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

ISCA 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 Protein 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 ...
  • 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 biosystemThe pathway 'Signaling by FGFR in disease' shows 'Signaling by FGFR mutants' in parallel with the wild-type pathway 'Signaling by FGFR', allowing users to compare disease and normal events. FGFR mut...
  • Signaling by FGFR mutants, organism-specific biosystem (from REACTOME)
    Signaling by FGFR mutants, 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 mutants, organism-specific biosystem (from REACTOME)
    Signaling by FGFR1 mutants, 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
PubMed 
Rac GTPase activator activity IEA
Inferred from Electronic Annotation
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
 
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
 
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 Rac 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 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
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
protein complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
breakpoint cluster region protein
Names
breakpoint cluster region protein
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 

    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 proteins identical to 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
    Blast Score: 360
    Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerization domain
    cd08686
    Location:9131033
    Blast Score: 587
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd00160
    Location:499689
    Blast Score: 373
    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: 994
    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, ...
    cd01228
    Location:694867
    Blast Score: 647
    PH_BCR-related; Breakpoint Cluster Region-related pleckstrin homology (PH) domain
    cl00506
    Location:96168
    Blast Score: 91
    Haemolytic; Haemolytic domain
  2. NM_021574.2NP_067585.2  breakpoint cluster region protein isoform 2

    See proteins identical to 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
    Conserved Domains (6) summary
    pfam09036
    Location:272
    Blast Score: 360
    Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerization domain
    cd00160
    Location:499689
    Blast Score: 375
    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: 993
    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, ...
    cd01228
    Location:694867
    Blast Score: 647
    PH_BCR-related; Breakpoint Cluster Region-related pleckstrin homology (PH) domain
    cl00506
    Location:96168
    Blast Score: 91
    Haemolytic; Haemolytic domain
    cl14603
    Location:913989
    Blast Score: 344
    C2; C2 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000022.11 

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

Alternate HuRef

Genomic

  1. AC_000154.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 

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