BCR

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]

Description

BCR activator of RhoGEF and GTPase

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Enzymes
FDA approved drug targets
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

22 (23179704 - 23318037)

Ensembl ID

ENSG00000186716  (ver. 103.38)

Orthologs

Mouse Bcr: ENSMUSG00000009681

UniProt

P11274

neXtProt

NX_P11274

Human splice variants
Mouse splice variants

Protein structure