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
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; BCR
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]

[Top][Help]Genomic regions, transcripts, and products

(plus) Go to reference sequence details Try our new Sequence Viewer

[Top][Help]Genomic context

chromosome: 22; Location: 22q11; 22q11.23See BCR in MapViewer

[Top][Help]Bibliography

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

	1.	BCR-abl transcript rise cutoffs of 5-fold or greater had poor diagnostic sensitivity and no significant association with mutations.
	2.	BCR-ABL promotes the frequency of mutagenic single-strand annealing DNA repair
	3.	Bcr-Abl expression increases Nox-4-generated ROS, which in turn increases survival signaling through PI3k/Akt pathway by inhibition of PP1alpha, thus contributing to the high level of resistance to apoptosis seen in TonB.210 cells.
	4.	Impact of baseline BCR-ABL mutations on response to nilotinib in patients with chronic myeloid leukemia in chronic phase.
	5.	Bcr-Abl represses the expression of PHLPP1 and PHLPP2 and continuously activates Akt1, -2, and -3 via phosphorylation on Ser-473, resulting in the proliferation of CML cells
	6.	analysis of exon 6 bcr-abl mutations in patients with chronic myeloid leukemia treated with tyrosine kinase inhibitors
	7.	Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
	8.	the loss of Bcr-Abl in imatinib-resistant K562 cells led to the down-regulation of c-FLIP and subsequent increase of TRAIL sensitivity
	9.	Mutation in the kinase domain of Bcr-Abl is associated with resistance to STI571.
	10.	early cellular and transcriptional effects of P190 BCR/ABL1 and P210 BCR/ABL1 expression are very similar when expressed in the same human progenitor cell population, and STAT5 is an important regulator of BCR/ABL1-induced erythroid cell expansion
	11.	BCR-ABL1 plays causal role in pathogenesis of chronic myeloid leukemia exhibiting deregulated cell proliferation, growth factor independence and reduced apoptosis resulting from signal pathways activation
	12.	BCR/ABL enhances the accumulation of DSBs and alters the apoptotic threshold in CML leading to error-prone DNA repair
	13.	co-expression of the p210 and p190 transcripts during progression to the blastic phase
	14.	detection of Bcr/Abl transcripts in newly diagnosed chronic myelogenous leukemia cases
	15.	findings demonstrate that in children like in adults specific BCR/ABL transcript types present at diagnosis are associated with distinct haematological alterations
	16.	a thorough biochemical comparative analysis of NUP214-ABL1 and BCR-ABL1 show that, despite their common tyrosine kinase domain, the two fusion proteins differ in many critical catalytic properties
	17.	compared BCR-ABL transcript type and level with kinase domain (KD) mutation status, genotype, and phenotype in 1855 Ph(+) leukemias
	18.	BCR-ABL inhibition is sufficient to commit chronic myeloid leukemia cells irreversibly to apoptosis
	19.	Hck has a nonredundant function as a key downstream signaling partner for Bcr-Abl and may represent a potential drug target in CML
	20.	Novel point mutations should be confirmed by analyzing the normal ABL alleles to exclude polymorphisms
	21.	BCR-ABL leukemogenesis inis blocked by PI3K in mice, and a dual PI3K/mTOR inhibitor prevents expansion of human BCR-ABL+ leukemia cells
	22.	BCR-ABL gene mutations in Philadelphia chromosome positive leukemia patients is associated with resistance to STI-571 cancer therapy
	23.	Bcr-Abl oncogene is responsible for the initial phase of chronic myelogenous leukemia, which is effectively treated by the Bcr-Abl inhibitor imatinib.
	24.	BCR-JAK2 fusion gene has the same breakpoint in BCR as is found in the BCR/ABL p210. The chimeric gene is the result of a reciprocal translocation between chromosomes 9 and 22, which implies a double break on chromosome 9
	25.	BCR/ABL fusion was the least frequent (2.7%)in this mexican population.
	26.	mice injected with p210(BCR/ABL)-transduced p53(-/-)c-Myb(w/w) marrow cells developed leukemia rapidly
	27.	BCR-ABL deletion mutants lacking kinase domain is associated with decreased drug sensitivity in patients with chronic myeloid leukemia
	28.	BCR can be considered as a candidate tumor suppressor gene localized on chromosome 22q which may be involved in meningioma pathogenesis.
	29.	Mutation of Bcr-Abl in chronic myelogenous leukemia is associated with resistance to Gleevec and sensitive to beta-phenylethyl isothiocyanate
	30.	Expression of miR-203 reduces ABL1 and BCR-ABL1 fusion protein levels and inhibits tumor cell proliferation in an ABL1-dependent manner, suggesting it may function as a tumor suppressor.
	31.	BCR-ABL impairs host defenses and promotes malignant transformation, involving dual suppression of IFN-activated signaling pathways
	32.	Deletions adjacent to BCR and ABL1 breakpoints occur in a substantial minority of chronic myeloid leukemia patients with masked Philadelphia rearrangements
	33.	BCR deletions are not associated with the complexity of translocation genesis of chronic myeloid leukemia
	34.	The inhibitory function of Bcr directed toward Bcr-Abl requires its kinase function.
	35.	found that the allele frequency of Ser796 was significantly higher in non-responders than in responders in lithium treatment of bipolar disease.
	36.	Bcr GTPase-activating domain activity is regulated through direct protein/protein interaction with the Rho guanine nucleotide dissociation inhibitor
	37.	Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
	38.	Observational study of genetic testing. (HuGE Navigator)
	39.	Observational study of gene-disease association. (HuGE Navigator)
	40.	These results demonstrate that allele-specific changes in gene expression, with selective, progressive silencing of the wild-type ABL1 allele in favor of the oncogenic BCR-ABL1 allele occur in CML patients with therapy-resistant disease.
	41.	A novel e8/a4 BCR/ABL fusion transcript is associated with a transformed Sezary syndrome
	42.	CML staining in cortical neurons and cerebral vessels is related to the severity of cognitive impairment in people with cerebrovascular disease and only minimal Alzheimer pathology.
	43.	Strategies targeting signals in the marrow microenvironment that amplify the Bcr-abl/VE-cadherin/beta-catenin axis may have utility in sensitizing drug-resistant leukemic stem cells.
	44.	T-cell repertoire of a patient with chronic myeloid leukemia in major molecular remission due to imatinib mesylate was also dominated by T cells directed against Bcr-Abl-regulated antigens
	45.	suggest a role for a combination of ABL kinase inhibitors, perhaps including VX-680, to prevent the outgrowth of cells harboring drug-resistant BCR-ABL mutations
	46.	p210BCR-ABL oncoprotein activity is linked to centrosomal hypertrophy
	47.	Ubp43 deficiency increases the resistance to oncogenic transformation by BCR-ABL
	48.	The incidence of BCR-ABL fusion oncogene in Pakistani patients with childhood acute lymphoid leukemia is diferent from other populations.
	49.	Bcr-Abl overexpression results in increased proliferation and antiapoptotic signaling in CD34(+) cells, but may not play a direct role in imatinib resistance in progenitor cells expressing either wild-type or mutant BCR/ABL genes.
	50.	expression of bcr/abl hybridized gene in chronic myeloid leukemia (CML), acute lymphatic leukemia (ALL) and polycythemia vera (PV), and its clinical significance
	51.	BCR-ABL is inhibited by lyp tyrosine phosphatase
	52.	BCR-ABL has a role in differentiation of embryonic stem cells
	53.	identified a BCR/ABL-dependent increase in expression of multiple genes involved in pre-mRNA splicing; generic changes in pre-mRNA splicing as a result of p210BCR/ABL kinase activity may contribute to CML pathogenesis
	54.	Molecular monitoring of the BCR-ABL transcript in chronic myelogenous leukemia (CML) using quantitative RT-PCR provides diagnostic and prognostic information, but levels differ in blood and bone marrow samples.
	55.	Identification of the CEBPB gene as a target of translational regulation in myeloid precursor cells transformed by the BCR/ABL oncogene.
	56.	The expression of Bcr-Abl leads to hyper-responsiveness of myeloid cells to TGFbeta; this novel cross-regulatory mechanism might play an important role in maintaining the transformed progenitor cell population in CML.
	57.	The rate of glycolysis is significantly increased in Bcr-Abl expressing cells in a PI3K-dependent manner.
	58.	Mutations on the Abelson tyrosine kinase domain of the bcr-abl gene translocation confers drug resistance to the kinase blocking agent SIT571
	59.	a system akin to the BCR-ABL translocation of CML may be involved in genomic instability in about one-third of colorectal carcinomas
	60.	MCL-1 is a BCR/ABL-dependent survival factor and interesting target in chronic myeloid leukemia.
	61.	bcr-abl transcript can be detected in the PBLs of Philadelphia chromosome (Ph)-negative essential thrombocythemia but the level of expression is markedly less than that in CML
	62.	the Bcr-Abl SH3-SH2 region is phosphorylated by Src family kinases, which modulate Bcr-Abl transforming activity
	63.	Bcr-Abl mediates protection from apoptosis downstream of mitochondrial cytochrome c release
	64.	BCR/ABL-Y177 plays an essential role in Ras and Akt activation and in human hematopoietic progenitor transformation in chronic myelogenous leukemia
	65.	The minor BCR-ABL fusion gene involving a secondary Philadelphia chromosome superimposed on inversion(3) and monosomy 7 has not previously been reported in acute myelocytic leukemia.
	66.	Pattern of BCR-ABL transcript levels after allograft is variable after stem cell transplantation for chronic myeloid leukemia.
	67.	BCR-ABL can regulate protein levels by governing secretion, a novel mechanism for this tyrosine kinase in acute myeloid leukemia.
	68.	concluded that the IRS-1 protein is involved in the signalling pathway of the BCR-ABL tyrosine kinase
	69.	FISH analysis of the abl and bcr genes showed the signal for bcr/abl fusion on the der(22) chromosome but not on the der(9) chromosome in Philadelpha-Negative chronic myeloid leukemia.
	70.	BCR fuses with ABL to form a fusion protein.
	71.	Achievement of molecular remission in BCR-ABL-positive ALL occurs also in standard chemotherapy but molecular remissions begin 2-4 months later than clinicohematological ones.
	72.	Bcr-Abl-induced abnormalities in glucose transport regulation have roles in chronic myeloid leukaemia
	73.	Along with ABL, deleted in leukemia, myeloid, philadelphia-positive.
	74.	Detection BCR-ABL fusion signal in both metaphase spreads and interphase cells of patients with chronic myeloid leukemia.
	75.	Mutations have been detected over a range of 242 amino acids, which span the entire kinase region and may account for resistance to imatinib mesylate.
	76.	BCRP causes measurable imatinib resistance, but this effect is attenuated by imatinib-mediated inhibition of BCR-ABL, which in turn downregulates overall BCRP levels posttranscriptionally via the PI3K-Akt pathway.
	77.	Sixty-six mutations in 23 amino acids were identified in 62 (36%) patients not responding to imatinib in chronic myeloid leukemia
	78.	BCR-ABL-expressing leukemic stem cells depend to a greater extent on CD44 for homing and engraftment than do normal hematopoietic stem cells
	79.	BCR-ABL1 kinase activity is linked to defective pre-B cell receptor signaling
	80.	identified 61 genes up-regulated by BCR/ABL1, including genes encoding transcription factors, kinases, and signal transduction molecules, as well as genes regulating cell growth, differentiation, apoptosis, and cell adhesion
	81.	detected the new mutation of BCR/ABL, resulting in premature termination and loss of BCR/ABL fusion protein expression
	82.	Expressed Bcr is able to bind the transcription factor Tcf1 to disrupt the Tcf1/beta-catenin complex. Phosphorylation of Bcr by the tyrosine kinase pp60(src) can lead to dissociation of the transcriptionally inactive Bcr/Tcf1 complex
	83.	Synthesis of histamine was found to be restricted to the basophil compartment of the CML clone and to depend on signaling through the PI3-kinase pathway. CML cells also expressed histamine receptors
	84.	down-regulation of Bcr-Abl mRNA might be one of the mechanisms implicated in the apicidin-mediated apoptosis in the K562 cells
	85.	The ability to negate calcium-dependent apoptotic signaling is a major prosurvival mechanism in Bcr-Abl-expressing cells.
	86.	2 cases of e19a2-positive CML with a new in-frame BCR exon e16 deletion are reported.
	87.	Results report the solution structure of AF-6 PDZ domain and its interaction with the C-terminal peptides from Neurexin and Bcr.
	88.	Sequence deletoin detected in chronic myeloid leukemia.
	89.	Impact of novel oral BCR-ABL tyrosine kinase inhibitors on the outcome of Thai chronic myeloid leukemia patients with different BCR-ABL gene variants.
	90.	BCR-ABL mutations confer resistance to the Abl kinase inhibitor AMN107 (nilotinib) in chronic myeloid leukemia
	91.	In the fusion of the BCR and FGFR1 genes in myeloproliferative disorder, it is likely that the dimerization properties of BCR lead to aberrant FGFR1 signaling and neoplastic transformation.
	92.	Bcr kinase downregulates Ras signaling by phosphorylating AF-6 and binding to its PDZ domain
	93.	We have examined the ability of Bcr to interact with other epithelial PDZ proteins and found specific binding to both the apical PDZK1 protein and the Golgi-localized Mint3.
	94.	p38 MAPK-mediated activation of NF-kappaB by the RhoGEF domain of Bcr
	95.	Enriched CD34+ cells from patients with BCR-ABL-positve chronic myelocytic leukemia in chronic phase or blast crisis do not associate blast crisis with mutation.
	96.	Adaphostin+/-bortezomib circumvent imatinib resistance due to Bcr/Abl point mutations most likely through reactive oxygen species generation.
	97.	retention of a dephosphorylated p210Bcr-Abl has a biologic impact distinct from that of downregulation/loss of p210Bcr-Abl and, in a subset of patients, loss of the target of the kinase inhibitor may lead to imatinib mesylate resistance
	98.	By lysing primary hemopoietic cells at high pH, BCR-ABL1 protein-degradative activity was inhibited & association between BCR-ABL1 protein in complexes with adaptor proteins CBL, CRKL & GRB2 in primary chronic myeloid leukaemia material was demonstrated
	99.	the incidence of deletions from the der(9) in childhood acute lymphoblastic leukemia is at least as high as that reported for chronic myeloid leukemia.
	100.	constitutively activated Bcr-Abl kinase pathways in primitive CML progenitors cooperate with growth factors producing a growth response and disrupt the normally required synergistic interactions between kit ligand and other cytokines to achieve activation
	101.	analyzed the clinical significance of bcr/abl mRNA levels in patients with chronic myeloid leukemia undergoing prolonged treatment with imatinib mesylate
	102.	ICSBP antagonizes BCR/ABL by down-regulation of bcl-2, implicating a central role for ICSBP in the pathogenesis of chronic myelogenous leukemia
	103.	ability of Bcr-Abl to stimulate the expression of osteopontin
	104.	Endoplasmic reticulum stress resulting from inhibition of p210 bcr-abl triggers apoptosis in CML; leading to Bcl-2 dowmodulation and inactivation, release of caspase 12 from the ER membranes in its active form, and Ca(2+)release from the ER pool
	105.	The ABL gene was inserted into the BCR region of chromosome 22 in chronic myelogenous leukemia.
	106.	The molecular breakpoint of the BCR-ABL fusion gene has been characterized for 122 chronic myeloid leukemia patients.
	107.	data presented here describe for the first time an analysis of the biological function of the reciprocal t(9;22) ABL/BCR fusion proteins in comparison to their physiological counterpart BCR
	108.	The frequency in each type of BCR-ABL transcript in Korean chronic myeloid leukemia patients is different from those of Western countries.
	109.	BCR/ABL amplification may play a role as a novel mechanism in the progression to an aggressive blast transformation in some cases of Philadelphia chromosome-positive chronic myelocytic leukemia
	110.	Expression of BCR/ABL and BCL-2 in myeloid progenitors leads to myeloid leukemias.
	111.	A novel and complex Ph chromosome-negative Chronic myeloid leukemia (CML) case with a t(6;9)(p21;q34.1) in which the BCR/ABL fusion gene is located at 6p21.
	112.	Bach2 is phosphorylated on S521 via Bcr-Abl signaling thru the phosphatidylinositol-3/S6 kinase pathway,and transcriptionally represses heme oxygenase-1
	113.	crystal structure of the Bcr-Abl oncoprotein oligomerization domain

Submit: New GeneRIF Correction

[Top][Help]Interactions

Description ..........
Product	Interactant	Other Gene	Complex	Source	Pubs
p210 Bcr-Abl phosphorylates p160 Bcr.
AAA35594.1	NP_004318.2	BCR		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_002077.1	GRB2		BIND	PubMed
Phosphorylated p210bcr-abl interacts with phosphorylated Syp. This interaction was modeled on a demonstrated interaction between human p210bcr-abl and mouse Syp.
AAA35594.1	NP_002825.3	PTPN11		BIND	PubMed

NP_004318.2	NP_005148.1	ABL1		HPRD	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_009297.1	ABL1		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_009298.1	ABL2		BIND	PubMed

NP_004318.2	NP_004318.2	BCR		HPRD	PubMed

NP_004318.2	BLK	BLK		HPRD	PubMed

NP_004318.2	NP_000113.1	ERCC3		HPRD	PubMed

NP_004318.2	FES tyrosine kinase	FES		HPRD	PubMed

NP_004318.2	Grb10	GRB10		HPRD	PubMed

NP_004318.2	NP_002077.1	GRB2		HPRD	PubMed

NP_004318.2	Janus kinase 2	JAK2		HPRD	PubMed

NP_004318.2	MAP4K5	MAP4K5		HPRD	PubMed

NP_004318.2	NP_005927.1	MLLT4		HPRD	PubMed

NP_004318.2	Grb4	NCK2		HPRD	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_002651.2	PLCG1		BIND	PubMed

NP_004318.2	SHP2	PTPN11		HPRD	PubMed

NP_004318.2	SHP1	PTPN6		HPRD	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_002881.1	RASA1		BIND	PubMed

NP_004318.2	SHC	SHC1		HPRD	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.
NP_004318.2	NP_005408.1	SRC		BIND	PubMed

NP_004318.2	VAV1	VAV1		HPRD	PubMed

NP_004318.2	14-3-3 zeta	YWHAZ		HPRD	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107083	BioGRID:106543	ABL1		BioGRID	PubMed
Co-purification
BioGRID:107083	BioGRID:107315	CBL		BioGRID	PubMed
Reconstituted Complex
BioGRID:107083	BioGRID:107433	CDC42		BioGRID	PubMed
Affinity Capture-Western; Far Western; Two-hybrid
BioGRID:107083	BioGRID:107789	CRKL		BioGRID	PubMed
Far Western; Two-hybrid
BioGRID:107083	BioGRID:108383	ERCC3		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:107083	BioGRID:108533	FES		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107083	BioGRID:115181	GAB2		BioGRID	PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107083	BioGRID:109144	GRB10		BioGRID	PubMed
Affinity Capture-Western; Far Western; Reconstituted Complex; Two-hybrid
BioGRID:107083	BioGRID:109142	GRB2		BioGRID	PubMed
Two-hybrid
BioGRID:107083	BioGRID:200045	Grb10		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107083	BioGRID:109305	HCK		BioGRID	PubMed
Phenotypic Enhancement
BioGRID:107083	BioGRID:109445	HOXA9		BioGRID	PubMed
Two-hybrid
BioGRID:107083	BioGRID:124396	IGSF21		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107083	BioGRID:109777	IL3		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107083	BioGRID:110015	KIT		BioGRID	PubMed
Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid
BioGRID:107083	BioGRID:110447	MLLT4		BioGRID	PubMed
Affinity Capture-Western; Co-purification; Two-hybrid
BioGRID:107083	BioGRID:111312	PIK3CG		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107083	BioGRID:111742	PTPN6		BioGRID	PubMed
Affinity Capture-Western; Co-purification
BioGRID:107083	BioGRID:111787	PXN		BioGRID	PubMed
Reconstituted Complex
BioGRID:107083	BioGRID:111817	RAC1		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107083	BioGRID:111860	RB1		BioGRID	PubMed
Reconstituted Complex
BioGRID:107083	BioGRID:106880	RHOA		BioGRID	PubMed
Affinity Capture-Western
BioGRID:107083	BioGRID:112537	SOS1		BioGRID	PubMed
Co-purification
BioGRID:107083	BioGRID:112949	TLN1		BioGRID	PubMed
Two-hybrid
BioGRID:107083	BioGRID:113010	TP53		BioGRID	PubMed
Two-hybrid
BioGRID:107083	BioGRID:114548	UNC119		BioGRID	PubMed

[Top][Help]General gene information

Markers

RH80432(e-PCR): Links: UniSTS:90373

STS-H69004(e-PCR): Links: UniSTS:30987

RH11197(e-PCR): Links: UniSTS:83988

RH27788(e-PCR): Links: UniSTS:90901

SHGC-170331(e-PCR): Links: UniSTS:183582

D11S2560(e-PCR): Links: UniSTS:37928

RH66855(e-PCR): Links: UniSTS:67886

G20484(e-PCR): Links: UniSTS:18482

A005T29(e-PCR): Links: UniSTS:18483

GDB:315173(e-PCR): Links: UniSTS:53824

GDB:193184(e-PCR): Links: UniSTS:155741

SHGC-9196(e-PCR): Links: UniSTS:36972

D15S1477(e-PCR): Links: UniSTS:474482

GDB:181503(e-PCR): Links: UniSTS:155250

GDB:181505(e-PCR): Links: UniSTS:155251

BCR(e-PCR): Links: UniSTS:504182

D22S257(e-PCR), detects polymorphism: Links: UniSTS:13973

D22S257(e-PCR), detects polymorphism: Links: UniSTS:13974

SHGC-85827(e-PCR): Links: UniSTS:103830

A009L29(e-PCR): Links: UniSTS:44967

G60279(e-PCR): Links: UniSTS:137384

D22S1027(e-PCR): Links: UniSTS:56750

BCR_4443(e-PCR): Links: UniSTS:462775

D22S1100E(e-PCR): Links: UniSTS:147386

GDB:451800(e-PCR): Links: UniSTS:157371

GDB:177065(e-PCR): Links: UniSTS:154819

SHGC-30277(e-PCR): Links: UniSTS:21720

GDB:452640(e-PCR): Links: UniSTS:157404

GDB:631802(e-PCR): Links: UniSTS:158429

GDB:190907(e-PCR): Links: UniSTS:155631

G32654(e-PCR): Links: UniSTS:117236

RH70541(e-PCR): Links: UniSTS:28151

Phenotypes

Leukemia, acute lymphocytic: MIM: 151410
Leukemia, chronic myeloid: MIM: 608232
Many sequence variants affecting diversity of adult human height: NHGRI GWA Catalog

Genotypes

See BCR SNP Genotype Report

See BCR SNP Geneview Report

See BCR SNP Variation Viewer Report

Related pseudogene(s)

7 foundReview record(s) in Gene

Homology

Homologs of the BCR gene The BCR gene is conserved in dog, cow, mouse, rat, chicken, and zebrafish.

Map Viewer (Mouse, Rat)

Pathways

KEGG pathway: Chronic myeloid leukemia: 05220
KEGG pathway: Pathways in cancer: 05200
Reactome Event:Signaling by Rho GTPases: REACT_11044

Gene Ontology Provided by GOA

Function	Evidence
ATP binding	IEA
GTPase activator activity	TAS	PubMed
Rho guanyl-nucleotide exchange factor activity	IEA
guanyl-nucleotide exchange factor activity	IEA
kinase activity	IEA
nucleotide binding	IEA
protein serine/threonine kinase activity	TAS	PubMed
transferase activity	IEA

Process	Evidence
intracellular signaling cascade	IEA
protein amino acid phosphorylation	TAS	PubMed
regulation of Rho protein signal transduction	IEA

Component	Evidence
intracellular	IEA

[Top][Help]General protein information

Preferred Names: breakpoint cluster region

Names: breakpoint cluster region

NP_004318.3: EC 2.7.11.1; 5` partial

NP_067585.2: EC 2.7.11.1; 5` partial

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

NG_009244.1 RefSeqGene

Range

5000..142672

Download

GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004327.3 → NP_004318.3 breakpoint cluster region isoform 1

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

Conserved Domains (7) summary

cd00030
Location:913 – 1006
Blast Score: 119

C2; Protein kinase C conserved region 2 (CalB); Ca2+-binding motif present in phospholipases, protein kinases C, and synaptotagmins (among others). Some do not appear to contain Ca2+-binding sites. Particular C2s appear to bind phospholipids, inositol...

cd00160
Location:499 – 689
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:1052 – 1252
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...

cd01228
Location:707 – 767
Blast Score: 290

PH_BCR-related; BCR (breakpoint cluster region)-related pleckstrin homology (PH) domain. The BCR-related protein has a RhoGEF(DH) domain followed by a PH domain, a C2 domain and a RhoGAP domain. PH domains share little sequence conservation, but all have a common...

pfam09036
Location:2 – 72
Blast Score: 353

Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerisation domain

smart00324
Location:1067 – 1230
Blast Score: 432

RhoGAP; GTPase-activator protein for Rho-like GTPases

cl00273
Location:830 – 867
Blast Score: 169

PH-like; Pleckstrin homology-like domain. This family includes the PH domain, both the Shc-like and IRS-like PTB domains, the ran-binding domain, the EVH1 domain, a domain in neurobeachin and the third domain of FERM. All of these domains have a PH fold, but...
NM_021574.2 → NP_067585.2 breakpoint cluster region isoform 2

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 (7) summary

cd00160
Location:499 – 689
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:1008 – 1208
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...

cd01228
Location:707 – 767
Blast Score: 291

PH_BCR-related; BCR (breakpoint cluster region)-related pleckstrin homology (PH) domain. The BCR-related protein has a RhoGEF(DH) domain followed by a PH domain, a C2 domain and a RhoGAP domain. PH domains share little sequence conservation, but all have a common...

pfam09036
Location:2 – 72
Blast Score: 354

Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerisation domain

smart00324
Location:1023 – 1186
Blast Score: 432

RhoGAP; GTPase-activator protein for Rho-like GTPases

cl00041
Location:912 – 960
Blast Score: 104

C2; Protein kinase C conserved region 2 (CalB); Ca2+-binding motif present in phospholipases, protein kinases C, and synaptotagmins (among others). Some do not appear to contain Ca2+-binding sites. Particular C2s appear to bind phospholipids, inositol...

cl00273
Location:830 – 867
Blast Score: 170

PH-like; Pleckstrin homology-like domain. This family includes the PH domain, both the Shc-like and IRS-like PTB domains, the ran-binding domain, the EVH1 domain, a domain in neurobeachin and the third domain of FERM. All of these domains have a PH fold, but...

RefSeqs of Annotated Genomes: Build 37.1

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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

NC_000022.10

Range

23522551..23660223

Download

GenBank FASTA Sequence Viewer (Graphics)
NT_011520.12

Range

2913120..3050792

Download

GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

AC_000065.1

Range

7337082..7474732

Download

GenBank FASTA Sequence Viewer (Graphics)
NW_927628.1

Range

1603276..1740926

Download

GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

AC_000154.1

Range

6461674..6627573

Download

GenBank FASTA Sequence Viewer (Graphics)
NW_001838745.1

Range

1588807..1754706

Download

GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

Nucleotide		Protein
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	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	CR623143.1	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	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
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