Breakpoint Cluster Region
| Breakpoint cluster region | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 1271 aa; 142.8 kDa | |
| Secondary to quaternary structure | Homotetramer | |
| Isoforms | 2 | |
| Identifier | ||
| Gene names | BCR ; BCR1; D22S11 | |
| External IDs | ||
| Enzyme classification | ||
| EC, category | 2.7.11.1 , protein kinase | |
| Response type | Phosphorylation | |
| Substrate | ATP + protein | |
| Products | ADP + phosphoprotein | |
| Occurrence | ||
| Homology family | HBG131711 | |
| Parent taxon | Newcomers | |
| Orthologue | ||
| human | mouse | |
| Entrez | 613 | 110279 |
| Ensemble | ENSG00000186716 | |
| UniProt | P11274 | |
| Refseq (mRNA) | NM_004327 | |
| PubMed search | 613 |
110279
|
The BCR gene (from Breakpoint cluster region ) is a human gene on chromosome 22 . It is one of the two genes of the BCR- complex associated with the Philadelphia chromosome . The normal product of BCR codes for an enzyme (a kinase ) with 1271 amino acids, with the alternative name renal cancer antigen NY-REN-26 .
pathology
A mutual (reciprocal) translocation between chromosomes 22 and 9 creates the Philadelphia chromosome , which is often found in patients with chronic myeloid leukemia . The breakpoint on chromosome 22 is within the BCR gene. The translocation creates a fusion protein which is composed of the genes BCR and ABL . ABL is the gene that resides in the Philadelphia breakpoint region on chromosome 9.
Although the BCR-ABL fusion protein has been studied very intensively, the normal function of the BCR protein is still unclear. The protein has serine / threonine kinase activity and is a GTPase-activating protein for RAC1 . Two mRNA variants that code for different isoforms of BCR have been found so far.
Individual evidence
- ↑ Entrez Gene: BCR breakpoint cluster region . Retrieved December 14, 2010.
further reading
- L. Wang et al .: e19a2-positive chronic myeloid leukaemia with BCR exon e16-deleted transcripts. In: Leukemia 16, 2002, pp. 1562-1563 PMID 12145699
- P. Karlson among others: Karlsons Biochemie and Pathobiochemie. Georg Thieme Verlag, 2005, p. 759. ISBN 3-133-57815-4