BCR (gene)

BCR
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1K1F, 2AIN
Identifiers
Aliases	BCR, Bcr, 5133400C09Rik, AI561783, AI853148, mKIAA3017, ALL, BCR1, CML, D22S11, D22S662, PHL, RhoGEF and GTPase activating protein, BCR gene, BCR activator of RhoGEF and GTPase
External IDs	OMIM: 151410 MGI: 88141 HomoloGene: 3192 GeneCards: BCR
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q11.23 Start 23,179,704 bp[1] End 23,318,037 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 C1|10 38.49 cM Start 74,896,424 bp[2] End 75,020,753 bp[2]
RNA expression pattern Bgee Top expressed in anterior pituitary pituitary gland caudate nucleus left coronary artery nucleus accumbens putamen More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotide binding guanyl-nucleotide exchange factor activity kinase activity protein serine/threonine kinase activity GO:0001948 protein binding enzyme binding protein tyrosine kinase activity ATP binding GO:0005097, GO:0005099, GO:0005100 GTPase activator activity Cellular component cytoplasm cytosol postsynaptic membrane membrane GO:0097483, GO:0097481 postsynaptic density plasma membrane synapse cell junction extracellular exosome protein-containing complex Schaffer collateral - CA1 synapse glutamatergic synapse postsynaptic density, intracellular component intracellular anatomical structure Biological process positive regulation of phagocytosis GO:0007243 intracellular signal transduction neuromuscular process controlling balance phosphorylation regulation of cell cycle negative regulation of blood vessel remodeling protein phosphorylation negative regulation of cellular extravasation response to lipopolysaccharide brain development regulation of vascular permeability negative regulation of cell migration negative regulation of neutrophil degranulation inner ear morphogenesis protein autophosphorylation platelet-derived growth factor receptor signaling pathway regulation of Rho protein signal transduction regulation of small GTPase mediated signal transduction negative regulation of inflammatory response actin cytoskeleton organization signal transduction peptidyl-tyrosine phosphorylation renal system process homeostasis of number of cells regulation of nitrogen compound metabolic process definitive hemopoiesis negative regulation of respiratory burst intracellular protein transmembrane transport cellular response to lipopolysaccharide negative regulation of reactive oxygen species metabolic process GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity modulation of chemical synaptic transmission small GTPase mediated signal transduction keratinocyte differentiation focal adhesion assembly GO:0032861, GO:0032862, GO:0032856 activation of GTPase activity Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	613	110279
Ensembl	ENSG00000186716	ENSMUSG00000009681
UniProt	P11274	Q6PAJ1
RefSeq (mRNA)	NM_004327 NM_021574	NM_001081412
RefSeq (protein)	NP_004318 NP_067585	NP_001074881
Location (UCSC)	Chr 22: 23.18 – 23.32 Mb	Chr 10: 74.9 – 75.02 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Bcr-Abl oncoprotein oligomerisation domain
structure of the bcr-abl oncoprotein oligomerization domain
Identifiers
Symbol	Bcr-Abl_Oligo
Pfam	PF09036
InterPro	IPR015123
Available protein structures: Pfam   structures / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

The breakpoint cluster region protein (BCR) also known as renal carcinoma antigen NY-REN-26 is a protein that in humans is encoded by the BCR gene. BCR is one of the two genes in the BCR-ABL complex, which is associated with the Philadelphia chromosome. Two transcript variants encoding different isoforms have been found for this gene.

Function[]

Although the BCR-ABL fusion protein has been studied endless times, the function of the normal BCR gene product is still not clear. The protein has serine/threonine kinase activity and is a guanine nucleotide exchange factor for Rho family GTPases including RhoA.^[5][6]

Clinical significance[]

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 that is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint.^[7]

Structure[]

Schematic of the BCR-ABL formation through chromosomal translocation

The BCR-ABL oncoprotein oligomerisation domain found at the N-terminus of BCR is essential for the oncogenicity of the BCR-ABL fusion protein. The BCR-ABL oncoprotein oligomerisation domain consists of a short N-terminal helix (alpha-1), a flexible loop and a long C-terminal helix (alpha-2). Together these form an N-shaped structure, with the loop allowing the two helices to assume a parallel orientation. The monomeric domains associate into a dimer through the formation of an antiparallel coiled coil between the alpha-2 helices and domain swapping of two alpha-1 helices, where one alpha-1 helix swings back and packs against the alpha-2 helix from the second monomer. Two dimers then associate into a tetramer.^[8]

Interactions[]

The BCR protein has been shown to interact with:

See also[]

• Abl gene

Abl is also connected to Bcr they are a gene, shaped together.

References[]

Further reading[]

External links[]

• BCR+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Human BCR genome location and BCR gene details page in the UCSC Genome Browser.
• Overview of all the structural information available in the PDB for UniProt: P11274 (Human Breakpoint cluster region protein) at the PDBe-KB.