LOCUS AAB60389.1 889 aa PRT HUM 12-JAN-2001 DEFINITION Homo sapiens breakpoint cluster region protein protein. ACCESSION U07000-3 PROTEIN_ID AAB60389.1 SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 152141) AUTHORS Chissoe,S.L., Bodenteich,A., Wang,Y.F., Wang,Y.P., Burian,D., Clifton,S.W., Crabtree,J., Freeman,A., Iyer,K., Jian,L., Ma,Y., McLaury,H.-J., Pan,H.-Q., Sarhan,O.H., Toth,S., Wang,Z., Zhang,G., Heisterkamp,N., Groffen,J. and Roe,B.A. TITLE Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation JOURNAL Genomics 27 (1), 67-82 (1995) PUBMED 7665185 REFERENCE 2 (bases 14590 to 16317; 87877 to 88058; 95028 to 95132; 95433 to 95618; 102486 to 102593; 105610 to 105670; 107159 to 107211; 107712 to 107852; 118055 to 118176; 119111 to 119279; 121237 to 121356; 122175 to 122250; 123595 to 123699; 124417 to 124491; 126619 to 126716; 129102 to 129233; 143502 to 143561; 144402 to 144511; 145775 to 145914; 146965 to 147099; 148046 to 148151; 148630 to 148792; 149511 to 150035) AUTHORS Heisterkamp,N., Stam,K., Groffen,J., de Klein,A. and Grosveld,G. TITLE Structural organization of the bcr gene and its role in the Ph' translocation JOURNAL Nature 315 (6022), 758-761 (1985) PUBMED 2989703 REFERENCE 3 (sites) AUTHORS Hariharan,I.K. and Adams,J.M. TITLE cDNA sequence for human bcr, the gene that translocates to the abl oncogene in chronic myeloid leukaemia JOURNAL EMBO J. 6 (1), 115-119 (1987) PUBMED 3107980 REFERENCE 4 (bases 14443 to 16317; 87877 to 88058; 95028 to 95132; 95433 to 95618; 102486 to 102593; 105610 to 105670; 107159 to 107211; 107712 to 107852; 118055 to 118176; 119111 to 119279; 121237 to 121356; 122175 to 122250; 123595 to 123699; 124417 to 124491; 126619 to 126716; 143502 to 143561; 144402 to 144511; 145775 to 145914; 146965 to 147099; 148046 to 148151; 148630 to 148792; 149511 to 150028) AUTHORS Lifshitz,B., Fainstein,E., Marcelle,C., Shtivelman,E., Amson,R., Gale,R.P. and Canaani,E. TITLE bcr genes and transcripts JOURNAL Oncogene 2 (2), 113-117 (1988) PUBMED 3285291 REFERENCE 5 (sites) AUTHORS Mount,S.M. TITLE A catalogue of splice junction sequences JOURNAL Nucleic Acids Res. 10 (2), 459-472 (1982) PUBMED 7063411 REFERENCE 6 (sites) AUTHORS Romero,P., Beran,M., Shtalrid,M., Andersson,B., Talpaz,M. and Blick,M. TITLE Alternative 5' end of the bcr-abl transcript in chronic myelogenous leukemia JOURNAL Oncogene 4 (1), 93-98 (1989) PUBMED 2915904 REFERENCE 7 (bases 13586 to 15175; 15861 to 16371) AUTHORS Zhu,Q.S., Heisterkamp,N. and Groffen,J. TITLE Unique organization of the human BCR gene promoter JOURNAL Nucleic Acids Res. 18 (23), 7119-7125 (1990) PUBMED 2263470 REFERENCE 8 (bases 14288 to 15050) AUTHORS Shah,N.P., Witte,O.N. and Denny,C.T. TITLE Characterization of the BCR promoter in Philadelphia chromosome-positive and -negative cell lines JOURNAL Mol. Cell. Biol. 11 (4), 1854-1860 (1991) PUBMED 1900918 REFERENCE 9 (bases 29622 to 33758) AUTHORS Romero,P. and Colombatti,A. JOURNAL Unpublished REFERENCE 10 (bases 68407 to 69776) AUTHORS Denny,C.T., Shah,N.P., Ogden,S., Willman,C., McConnell,T., Crist,W., Carroll,A. and Witte,O.N. TITLE Localization of preferential sites of rearrangement within the BCR gene in Philadelphia chromosome-positive acute lymphoblastic leukemia JOURNAL Proc. Natl. Acad. Sci. U.S.A. 86 (11), 4254-4258 (1989) PUBMED 2567002 REFERENCE 11 (bases 69715 to 69950) AUTHORS van der Feltz,M.J., Shivji,M.K., Allen,P.B., Heisterkamp,N., Groffen,J. and Wiedemann,L.M. TITLE Nucleotide sequence of both reciprocal translocation junction regions in a patient with Ph positive acute lymphoblastic leukaemia, with a breakpoint within the first intron of the BCR gene JOURNAL Nucleic Acids Res. 17 (1), 1-10 (1989) PUBMED 2911461 REFERENCE 12 (bases 70497 to 70847) AUTHORS Papadopoulos,P.C., Greenstein,A.M., Gaffney,R.A., Westbrook,C.A. and Wiedemann,L.M. TITLE Characterization of the translocation breakpoint sequences in Philadelphia-positive acute lymphoblastic leukemia JOURNAL Genes Chromosomes Cancer 1 (3), 233-239 (1990) PUBMED 2083218 REFERENCE 13 (bases 73813 to 76835) AUTHORS Chen,S.J., Chen,Z., d'Auriol,L., Le Coniat,M., Grausz,D. and Berger,R. TITLE Ph1+bcr- acute leukemias: implication of Alu sequences in a chromosomal translocation occurring in the new cluster region within the BCR gene JOURNAL Oncogene 4 (2), 195-202 (1989) PUBMED 2648256 REFERENCE 14 (bases 121621 to 126622) AUTHORS Sowerby,S.J., Kennedy,M.A., Fitzgerald,P.H. and Morris,C.M. TITLE DNA sequence analysis of the major breakpoint cluster region of the BCR gene rearranged in Philadelphia-positive human leukemias JOURNAL Oncogene 8 (6), 1679-1683 (1993) PUBMED 8502487 REFERENCE 15 (sites) AUTHORS Uberbacher,E.C. and Mural,R.J. TITLE Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach JOURNAL Proc. Natl. Acad. Sci. U.S.A. 88 (24), 11261-11265 (1991) PUBMED 1763041 REFERENCE 16 (sites) AUTHORS Takeda,J., Yano,H., Eng,S., Zeng,Y. and Bell,G.I. TITLE A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones JOURNAL Hum. Mol. Genet. 2 (11), 1793-1798 (1993) PUBMED 7506601 REFERENCE 17 (sites) AUTHORS Chen,S.J., Chen,Z., Font,M.P., d'Auriol,L., Larsen,C.J. and Berger,R. TITLE Structural alterations of the BCR and ABL genes in Ph1 positive acute leukemias with rearrangements in the BCR gene first intron: further evidence implicating Alu sequences in the chromosome translocation JOURNAL Nucleic Acids Res. 17 (19), 7631-7642 (1989) PUBMED 2678002 REFERENCE 18 (sites) AUTHORS Groffen,J., Stephenson,J.R., Heisterkamp,N., de Klein,A., Bartram,C.R. and Grosveld,G. TITLE Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22 JOURNAL Cell 36 (1), 93-99 (1984) PUBMED 6319012 REFERENCE 19 (sites) AUTHORS Chissoe,S.L. TITLE Sequence of the human abl and bcr genes JOURNAL Thesis (1994) University of Oklahoma REFERENCE 20 (sites) AUTHORS Litz,C.E., McClure,J.S., Copenhaver,C.M. and Brunning,R.D. TITLE Duplication of small segments within the major breakpoint cluster region in chronic myelogenous leukemia JOURNAL Blood 81 (6), 1567-1572 (1993) PUBMED 8453102 REFERENCE 21 (sites) AUTHORS de Klein,A., van Agthoven,T., Groffen,C., Heisterkamp,N., Groffen,J. and Grosveld,G. TITLE Molecular analysis of both translocation products of a Philadelphia-positive CML patient JOURNAL Nucleic Acids Res. 14 (17), 7071-7082 (1986) PUBMED 3463934 REFERENCE 22 (sites) AUTHORS Mills,K.I., Sproul,A.M., Ogilvie,D., Elvin,P., Leibowitz,D. and Burnett,A.K. TITLE Amplification and sequencing of genomic breakpoints located within the M-bcr region by Vectorette-mediated polymerase chain reaction JOURNAL Leukemia 6 (5), 481-483 (1992) PUBMED 1317490 REFERENCE 23 (sites) AUTHORS Groffen,J., Heisterkamp,N., Grosveld,F., Van de Ven,W. and Stephenson,J.R. TITLE Isolation of human oncogene sequences (v-fes homolog) from a cosmid library JOURNAL Science 216 (4550), 1136-1138 (1982) PUBMED 6281890 REFERENCE 24 (sites) AUTHORS Soekarman,D., van Denderen,J., Hoefsloot,L., Moret,M., Meeuwsen,T., van Baal,J., Hagemeijer,A. and Grosveld,G. TITLE A novel variant of the bcr-abl fusion product in Philadelphia chromosome-positive acute lymphoblastic leukemia JOURNAL Leukemia 4 (6), 397-403 (1990) PUBMED 2193202 REFERENCE 25 (sites) AUTHORS Heisterkamp,N., Stephenson,J.R., Groffen,J., Hansen,P.F., de Klein,A., Bartram,C.R. and Grosveld,G. TITLE Localization of the c-ab1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia JOURNAL Nature 306 (5940), 239-242 (1983) PUBMED 6316147 REFERENCE 26 (sites) AUTHORS Grosveld,G., Verwoerd,T., van Agthoven,T., de Klein,A., Ramachandran,K.L., Heisterkamp,N., Stam,K. and Groffen,J. TITLE The chronic myelocytic cell line K562 contains a breakpoint in bcr and produces a chimeric bcr/c-abl transcript JOURNAL Mol. Cell. Biol. 6 (2), 607-616 (1986) PUBMED 3023859 REFERENCE 27 (sites) AUTHORS Morris,C.M., Heisterkamp,N., Groffen,J. and Fitzgerald,P.H. TITLE Entire ABL gene is joined with 5'-BCR in some patients with Philadelphia-positive leukemia JOURNAL Blood 78 (4), 1078-1084 (1991) PUBMED 1868241 REFERENCE 28 (sites) AUTHORS Heisterkamp,N., Knoppel,E. and Groffen,J. TITLE The first BCR gene intron contains breakpoints in Philadelphia chromosome positive leukemia JOURNAL Nucleic Acids Res. 16 (21), 10069-10081 (1988) PUBMED 3194194 REFERENCE 29 (sites) AUTHORS Tatusov,R. and Lipman,D.J. TITLE Using local similarities for pattern detection in nucleotide/protein sequences JOURNAL Unpublished REFERENCE 30 (bases 1 to 152141) AUTHORS Roe,B.A. TITLE Direct Submission JOURNAL Submitted (22-FEB-1994) Bruce A. Roe, Dept. of Chemistry and Biochemistry, University of Oklahoma, 620 Parrington Oval, Room 208, Norman, OK 73019, USA FEATURES Qualifiers source /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="22" /map="22q11" source /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /map="22q11" /clone="cos 7-1" /cell_line="K562 CML" source /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /clone="Bridge-2" /cell_line="K562 CML" source /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /clone="RK2-2" /cell_line="K562 CML" source /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /clone="KBP5" /cell_line="K562 CML" source /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /map="22q11" /clone="CA-22" /cell_line="human lung carcinoma tissue" protein /gene="BCR" /inference="non-experimental evidence, no additional details recorded" /note="the protein coding sequence of the alternative first exon and the BCR second exon, from cDNA clone 3c" /citation=[6] intron_pos 46:0 (1/22) intron_pos 106:0 (2/22) intron_pos 141:0 (3/22) intron_pos 203:0 (4/22) intron_pos 239:0 (5/22) intron_pos 259:1 (6/22) intron_pos 277:0 (7/22) intron_pos 324:0 (8/22) intron_pos 364:2 (9/22) intron_pos 421:0 (10/22) intron_pos 461:0 (11/22) intron_pos 486:1 (12/22) intron_pos 521:1 (13/22) intron_pos 546:1 (14/22) intron_pos 579:0 (15/22) intron_pos 623:0 (16/22) intron_pos 643:0 (17/22) intron_pos 679:2 (18/22) intron_pos 726:1 (19/22) intron_pos 771:1 (20/22) intron_pos 806:2 (21/22) intron_pos 861:0 (22/22) BEGIN 1 PSAPRVSTVG LLCSGAGPHL CPCAEEGTGG LESQGEIIPS RGSRKARSEH HLDTAALQTG 61 QRSSAGTKMG CPTLMTRPPH RPTSAARAGA AGMRWSREPW SPLKRSELDL EKGLEMRKWV 121 LSGILASEET YLSHLEALLL PMKPLKAAAT TSQPVLTSQQ IETIFFKVPE LYEIHKEFYD 181 GLFPRVQQWS HQQRVGDLFQ KLASQLGVYR AFVDNYGVAM EMAEKCCQAN AQFAEISENL 241 RARSNKDAKD PTTKNSLETL LYKPVDRVTR STLVLHDLLK HTPASHPDHP LLQDALRISQ 301 NFLSSINEEI TPRRQSMTVK KGEHRQLLKD SFMVELVEGA RKLRHVFLFT DLLLCTKLKK 361 QSGGKTQQYD CKWYIPLTDL SFQMVDELEA VPNIPLVPDE ELDALKIKIS QIKNDIQREK 421 RANKGSKATE RLKKKLSEQE SLLLLMSPSM AFRVHSRNGK SYTFLISSDY ERAEWRENIR 481 EQQKKCFRSF SLTSVELQML TNSCVKLQTV HSIPLTINKE DDESPGLYGF LNVIVHSATG 541 FKQSSNLYCT LEVDSFGYFV NKAKTRVYRD TAEPNWNEEF EIELEGSQTL RILCYEKCYN 601 KTKIPKEDGE STDRLMGKGQ VQLDPQALQD RDWQRTVIAM NGIEVKLSVK FNSREFSLKR 661 MPSRKQTGVF GVKIAVVTKR ERSKVPYIVR QCVEEIERRG MEEVGIYRVS GVATDIQALK 721 AAFDVNNKDV SVMMSEMDVN AIAGTLKLYF RELPEPLFTD EFYPNFAEGI ALSDPVAKES 781 CMLNLLLSLP EANLLTFLFL LDHLKRVAEK EAVNKMSLHN LATVFGPTLL RPSEKESKLP 841 ANPSQPITMT DSWSLEVMSQ VQVLLYFLQL EAIPAPDSKR QSILFSTEV //