Format

Send to:

Choose Destination

BCR BCR, RhoGEF and GTPase activating protein [ Homo sapiens (human) ]

Gene ID: 613, updated on 16-Jul-2017
Official Symbol
BCRprovided by HGNC
Official Full Name
BCR, RhoGEF and GTPase activating proteinprovided by HGNC
Primary source
HGNC:HGNC:1014
See related
Ensembl:ENSG00000186716 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
108 current GRCh38.p7 (GCF_000001405.33) 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 radial spoke head 14 homolog Neighboring gene L3MBTL4, histone methyl-lysine binding protein pseudogene Neighboring gene RAB36, member RAS oncogene family Neighboring gene breakpoint cluster region pseudogene 8 Neighboring gene RNA, 7SL, cytoplasmic 263, pseudogene Neighboring gene F-box and WD repeat domain containing 4 pseudogene 1 Neighboring gene uncharacterized LOC107985554 Neighboring gene POM121 transmembrane nucleoporin like 11, pseudogene Neighboring gene long intergenic non-protein coding RNA 2556 Neighboring gene ribosomal protein S10 pseudogene 30

  • 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 Jun 15 11:32:44 2016

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 myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
  • Chronic myeloid leukemia, conserved biosystem (from KEGG)
    Chronic myeloid leukemia, conserved biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
  • 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 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...
  • Signaling by cytosolic FGFR1 fusion mutants, organism-specific biosystem (from REACTOME)
    Signaling by cytosolic 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...
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 IBA
Inferred from Biological aspect of Ancestor
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
 
cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
definitive hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
homeostasis of number of cells IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transmembrane transport 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
 
negative regulation of reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of respiratory burst IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
platelet-derived growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
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 nitrogen compound metabolic process 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
 
renal system process 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 of dendrite 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
breakpoint cluster region
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
    ENSP00000303507.8, OTTHUMP00000028949, ENST00000305877.12, OTTHUMT00000075819
    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_021574.2NP_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
    ENSP00000352535.3, OTTHUMP00000067895, ENST00000359540.7, OTTHUMT00000140135
    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 Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p7 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)
Support Center