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

Gene ID: 613, updated on 20-Sep-2020

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

Genomic context

See BCR in Genome Data Viewer
Location:
22q11.23
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (23180509..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 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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Rho guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
Process Evidence Code Pubs
actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
activation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
activation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
keratinocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
modulation of chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
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
 
platelet-derived growth factor receptor signaling pathway 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
small GTPase mediated signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
axon IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
glutamatergic synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density, intracellular component ISS
Inferred from Sequence or Structural Similarity
more info
 
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)

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)

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 109.20200815

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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