Homo sapiens breakpoint cluster region (BCR), transcript variant 2, mRNA.
| RefSeq Version | NM_021574.2, 82546844 |
| Length | 6795 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens breakpoint cluster region (BCR), transcript variant 2, mRNA. |
| Product | breakpoint cluster region protein isoform 2 |
| Comment | Summary: 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 protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. |
| RefSeq | NP_067585.2 |
| CDS | 597..4280 | Exon (1) | 1..1875 | Exon (2) | 1..1875 | Exon (3) | 1876..2057 | Exon (4) | 2058..2162 | Exon (5) | 2163..2348 | Exon (6) | 2349..2456 | Exon (7) | 2457..2517 | Exon (8) | 2518..2570 | Exon (9) | 2571..2711 | Exon (10) | 2712..2833 | Exon (11) | 2834..3002 | Exon (12) | 3003..3122 | Exon (13) | 3123..3198 | Exon (14) | 3199..3303 | Exon (15) | 3304..3378 | Exon (16) | 3379..3476 | Exon (17) | 3477..3536 | Exon (18) | 3537..3646 | Exon (19) | 3647..3786 | Exon (20) | 3787..3921 | Exon (21) | 3922..4027 | Exon (22) | 4028..4190 | Exon (23) | 4191..6795 |
| Translation | MVDPVGFAEAWKAQFPDSEPPRMELRSVGDIEQELERCKASIRRLEQEVNQERFRMIYLQ
TLLAKEKKSYDRQRWGFRRAAQAPDGASEPRASASRPQPAPADGADPPPAEEPEARPDGE
GSPGKARPGTARRPGAAASGERDDRGPPASVAALRSNFERIRKGHGQPGADAEKPFYVNV
EFHHERGLVKVNDKEVSDRISSLGSQAMQMERKKSQHGAGSSVGDASRPPYRGRSSESSC
GVDGDYEDAELNPRFLKDNLIDANGGSRPPWPPLEYQPYQSIYVGGMMEGEGKGPLLRSQ
STSEQEKRLTWPRRSYSPRSFEDCGGGYTPDCSSNENLTSSEEDFSSGQSSRVSPSPTTY
RMFRDKSRSPSQNSQQSFDSSSPPTPQCHKRHRHCPVVVSEATIVGVRKTGQIWPNDGEG
AFHGDADGSFGTPPGYGCAADRAEEQRRHQDGLPYIDDSPSSSPHLSSKGRGSRDALVSG
ALESTKASELDLEKGLEMRKWVLSGILASEETYLSHLEALLLPMKPLKAAATTSQPVLTS
QQIETIFFKVPELYEIHKEFYDGLFPRVQQWSHQQRVGDLFQKLASQLGVYRAFVDNYGV
AMEMAEKCCQANAQFAEISENLRARSNKDAKDPTTKNSLETLLYKPVDRVTRSTLVLHDL
LKHTPASHPDHPLLQDALRISQNFLSSINEEITPRRQSMTVKKGEHRQLLKDSFMVELVE
GARKLRHVFLFTDLLLCTKLKKQSGGKTQQYDCKWYIPLTDLSFQMVDELEAVPNIPLVP
DEELDALKIKISQIKNDIQREKRANKGSKATERLKKKLSEQESLLLLMSPSMAFRVHSRN
GKSYTFLISSDYERAEWRENIREQQKKCFRSFSLTSVELQMLTNSCVKLQTVHSIPLTIN
KEDDESPGLYGFLNVIVHSATGFKQSSNLYCTLEVDSFGYFVNKAKTRVYRDTAEPNWNE
LDPQALQDRDWQRTVIAMNGIEVKLSVKFNSREFSLKRMPSRKQTGVFGVKIAVVTKRER
SKVPYIVRQCVEEIERRGMEEVGIYRVSGVATDIQALKAAFDVNNKDVSVMMSEMDVNAI
AGTLKLYFRELPEPLFTDEFYPNFAEGIALSDPVAKESCMLNLLLSLPEANLLTFLFLLD
HLKRVAEKEAVNKMSLHNLATVFGPTLLRPSEKESKLPANPSQPITMTDSWSLEVMSQVQ
VLLYFLQLEAIPAPDSKRQSILFSTEV
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| Gene Symbol | BCR |
| Gene Synonym | ALL; BCR1; CML; D22S11; D22S662; FLJ16453; PHL |
| Chromosome | 22 |
| Locus Map | 22q11.23 |
| All Transcripts | NM_021574 , NM_004327 |
| Title | Bcr-Abl-induced tyrosine phosphorylation of Emi1 to stabilize Skp2 protein via inhibition of ubiquitination in chronic myeloid leukemia cells . |
| Author | Chen,J.Y., Wang,M.C. and Hung,W.C. |
| Journal | J. Cell. Physiol. 226 (2), 407-413 (2011) |
| Title | The proximal signaling network of the BCR-ABL1 oncogene shows a modular organization . |
| Author | Titz,B., Low,T., Komisopoulou,E., Chen,S.S., Rubbi,L. and Graeber,T.G. |
| Journal | Oncogene 29 (44), 5895-5910 (2010) |
| Title | Exon 7 deletion in the bcr-abl gene is frequent in chronic myeloid leukemia patients and is not correlated with resistance against imatinib . |
| Author | Gaillard,J.B., Arnould,C., Bravo,S., Donadio,D., Exbrayat,C., Jourdan,E., Reboul,D., Chiesa,J. and Lavabre-Bertrand,T. |
| Journal | Mol. Cancer Ther. 9 (11), 3083-3089 (2010) |
| Title | Analysis of BCR-ABL1 tyrosine kinase domain mutational spectra in primitive chronic myeloid leukemia cells suggests a unique mutator phenotype . |
| Author | Grant,H., Jiang,X., Stebbing,J., Foroni,L., Craddock,C., Griffiths,M., Clark,R.E., O'Brien,S., Khorashad,J.S., Gerrard,G., Wang,L., Irving,J.A., Wang,M., Karran,L., Dyer,M.J., Forrest,D., Page,K., Eaves,C.J. and Woolfson,A. |
| Journal | Leukemia 24 (10), 1817-1821 (2010) |
| Title | A unique BCR-ABL1 transcript with the insertion of intronic sequence from BCR and ABL1 genes in a patient with Philadelphia-positive chronic myeloid leukemia: a case study . |
| Author | Sadia,H., Siddiqui,R.T. and Nasim,A. |
| Journal | Cancer Genet. Cytogenet. 201 (1), 57-61 (2010) |
| Title | Amplification and sequencing of genomic breakpoints located within the M-bcr region by Vectorette-mediated polymerase chain reaction . |
| Author | Mills,K.I., Sproul,A.M., Ogilvie,D., Elvin,P., Leibowitz,D. and Burnett,A.K. |
| Journal | Leukemia 6 (5), 481-483 (1992) |
| Title | Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach . |
| Author | Uberbacher,E.C. and Mural,R.J. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 88 (24), 11261-11265 (1991) |
| Title | The BCR gene encodes a novel serine/threonine kinase activity within a single exon . |
| Author | Maru,Y. and Witte,O.N. |
| Journal | Cell 67 (3), 459-468 (1991) |
| Title | BCR sequences essential for transformation by the BCR-ABL oncogene bind to the ABL SH2 regulatory domain in a non-phosphotyrosine-dependent manner . |
| Author | Pendergast,A.M., Muller,A.J., Havlik,M.H., Maru,Y. and Witte,O.N. |
| Journal | Cell 66 (1), 161-171 (1991) |
| Title | Reconstruction and analysis of human Alu genes . |
| Author | Jurka,J. and Milosavljevic,A. |
| Journal | J. Mol. Evol. 32 (2), 105-121 (1991) |
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