BCR (gene)

Breakpoint cluster region
PDB rendering based on 1k1f.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1K1F, 2AIN
Identifiers
Symbols	BCR ; ALL; BCR1; CML; D22S11; D22S662; PHL
External IDs	OMIM: 151410 MGI: 88141 HomoloGene: 3192 ChEMBL: 5146 GeneCards: BCR Gene
EC number	2.7.11.1
Gene ontology Molecular function • protein serine/threonine kinase activity • protein tyrosine kinase activity • Rho guanyl-nucleotide exchange factor activity • GTPase activator activity • protein binding • ATP binding • kinase activity • enzyme binding Cellular component • cytosol • postsynaptic density • membrane • cell junction • protein complex • postsynaptic membrane • extracellular exosome Biological process • negative regulation of cellular extravasation • protein phosphorylation • signal transduction • small GTPase mediated signal transduction • brain development • peptidyl-tyrosine phosphorylation • actin cytoskeleton organization • response to lipopolysaccharide • regulation of Rho protein signal transduction • inner ear morphogenesis • regulation of vascular permeability • negative regulation of neutrophil degranulation • positive regulation of GTPase activity • protein autophosphorylation • platelet-derived growth factor receptor signaling pathway • negative regulation of inflammatory response • positive regulation of phagocytosis • neuromuscular process controlling balance • regulation of small GTPase mediated signal transduction • regulation of cell cycle • negative regulation of blood vessel remodeling Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	613	110279
Ensembl	ENSG00000186716	ENSMUSG00000009681
UniProt	P11274	Q6PAJ1
RefSeq (mRNA)	NM_004327	NM_001081412
RefSeq (protein)	NP_004318	NP_001074881
Location (UCSC)	Chr 22: 23.18 – 23.32 Mb	Chr 10: 75.06 – 75.18 Mb
PubMed search	[1]	[2]

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 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 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 RAC1 and CDC42.

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.

Structure

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.

Interactions

BCR gene has been shown to interact with:

• Abl gene,
• CD117,
• CRKL
• FES,
• Grb2,
• GRB10,
• HCK,
• MLLT4,
• PXN,
• PIK3CG,
• PTPN6,
• PTPRT(PTPrho)
• SOS1, and
• XPB.

See also

• Abl gene

External links

• BCR protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the public domain Pfam and InterPro IPR015123