• Gene id: 613

Gene Summary

• Gene Symbol: BCR   Gene   UCSC   Ensembl
• Aliases: ALL, BCR1, CML, D22S11, D22S662, PHL
• Gene name: BCR activator of RhoGEF and GTPase
• Alternate names: breakpoint cluster region protein, BCR, RhoGEF and GTPase activating protein, BCR/FGFR1 chimera protein, FGFR1/BCR chimera protein, breakpoint cluster region, renal carcinoma antigen NY-REN-26,
• Gene location: 22q11.23 (23959163: 23963461)     Exons: 4     NC_000001.11
• Gene summary(Entrez): 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 trans
• OMIM: 151410

Protein Summary

• Protein general information: P11274  
  • Name: Breakpoint cluster region protein (EC 2.7.11.1) (Renal carcinoma antigen NY REN 26)
  • Length: 1271  
  • Mass: 142819
• Sequence:

  MVDPVGFAEAWKAQFPDSEPPRMELRSVGDIEQELERCKASIRRLEQEVNQERFRMIYLQTLLAKEKKSYDRQRW
  GFRRAAQAPDGASEPRASASRPQPAPADGADPPPAEEPEARPDGEGSPGKARPGTARRPGAAASGERDDRGPPAS
  VAALRSNFERIRKGHGQPGADAEKPFYVNVEFHHERGLVKVNDKEVSDRISSLGSQAMQMERKKSQHGAGSSVGD
  ASRPPYRGRSSESSCGVDGDYEDAELNPRFLKDNLIDANGGSRPPWPPLEYQPYQSIYVGGMMEGEGKGPLLRSQ
  STSEQEKRLTWPRRSYSPRSFEDCGGGYTPDCSSNENLTSSEEDFSSGQSSRVSPSPTTYRMFRDKSRSPSQNSQ
  QSFDSSSPPTPQCHKRHRHCPVVVSEATIVGVRKTGQIWPNDGEGAFHGDADGSFGTPPGYGCAADRAEEQRRHQ
  DGLPYIDDSPSSSPHLSSKGRGSRDALVSGALESTKASELDLEKGLEMRKWVLSGILASEETYLSHLEALLLPMK
  PLKAAATTSQPVLTSQQIETIFFKVPELYEIHKEFYDGLFPRVQQWSHQQRVGDLFQKLASQLGVYRAFVDNYGV
  AMEMAEKCCQANAQFAEISENLRARSNKDAKDPTTKNSLETLLYKPVDRVTRSTLVLHDLLKHTPASHPDHPLLQ
  DALRISQNFLSSINEEITPRRQSMTVKKGEHRQLLKDSFMVELVEGARKLRHVFLFTDLLLCTKLKKQSGGKTQQ
  YDCKWYIPLTDLSFQMVDELEAVPNIPLVPDEELDALKIKISQIKNDIQREKRANKGSKATERLKKKLSEQESLL
  LLMSPSMAFRVHSRNGKSYTFLISSDYERAEWRENIREQQKKCFRSFSLTSVELQMLTNSCVKLQTVHSIPLTIN
  KEDDESPGLYGFLNVIVHSATGFKQSSNLYCTLEVDSFGYFVNKAKTRVYRDTAEPNWNEEFEIELEGSQTLRIL
  CYEKCYNKTKIPKEDGESTDRLMGKGQVQLDPQALQDRDWQRTVIAMNGIEVKLSVKFNSREFSLKRMPSRKQTG
  VFGVKIAVVTKRERSKVPYIVRQCVEEIERRGMEEVGIYRVSGVATDIQALKAAFDVNNKDVSVMMSEMDVNAIA
  GTLKLYFRELPEPLFTDEFYPNFAEGIALSDPVAKESCMLNLLLSLPEANLLTFLFLLDHLKRVAEKEAVNKMSL
  HNLATVFGPTLLRPSEKESKLPANPSQPITMTDSWSLEVMSQVQVLLYFLQLEAIPAPDSKRQSILFSTEV

• Structural information:
  • Protein Domains: (498..69-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (708..86-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (893..102-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (1054-)
  • Interpro: IPR037769  IPR015123  IPR036481  IPR000008  IPR035892   IPR035899  IPR000219  IPR001331  IPR001849  IPR008936  IPR000198  
  • Prosite: PS50004 PS00741 PS50010 PS50003 PS50238
  • CDD: cd00160
  • PDB: 1K1F 2AIN 5N6R 5N7E 5OC7
  • PDBsum: 1K1F 2AIN 5N6R 5N7E 5OC7
  • STRING: ENSP00000303507
• Other Databases: GeneCards:  BCR  Malacards:  BCR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0090630	activation of GTPase activity	IDA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0099092	postsynaptic density, intracellular component	ISS	cellular component
GO:0098978	glutamatergic synapse	ISS	cellular component
GO:0098978	glutamatergic synapse	ISS	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	ISS	cellular component
GO:0048041	focal adhesion assembly	IMP	biological process
GO:0090630	activation of GTPase activity	IMP	biological process
GO:0014069	postsynaptic density	ISS	cellular component
GO:0050804	modulation of chemical synaptic transmission	ISS	biological process
GO:0030216	keratinocyte differentiation	IMP	biological process
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0035023	regulation of Rho protein signal transduction	IMP	biological process
GO:0007264	small GTPase mediated signal transduction	IMP	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0016301	kinase activity	TAS	molecular function
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0060216	definitive hemopoiesis	IEA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0043114	regulation of vascular permeability	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0099092	postsynaptic density, intracellular component	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0046777	protein autophosphorylation	IEA	biological process
GO:2000378	negative regulation of reactive oxygen species metabolic process	IEA	biological process
GO:0065002	intracellular protein transmembrane transport	IEA	biological process
GO:0060313	negative regulation of blood vessel remodeling	IEA	biological process
GO:0060268	negative regulation of respiratory burst	IEA	biological process
GO:0051171	regulation of nitrogen compound metabolic process	IEA	biological process
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0050766	positive regulation of phagocytosis	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0043314	negative regulation of neutrophil degranulation	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0003014	renal system process	IEA	biological process
GO:0002692	negative regulation of cellular extravasation	IEA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05220	Chronic myeloid leukemia

Diseases

Associated diseases	References
leukemia	PMID:11313935
chronic myeloid leukemia	PMID:25133686
chronic myeloid leukemia	PMID:12067277
chronic myeloid leukemia	PMID:1362728
chronic myeloid leukemia	PMID:7683349
chronic myeloid leukemia	PMID:2683759
chronic myeloid leukemia	PMID:3101769
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq