LOCUS NP_009297 1148 aa linear PRI 20-DEC-2003 DEFINITION v-abl Abelson murine leukemia viral oncogene homolog 1 isoform b; Abelson murine leukemia viral (v-abl) oncogene homolog 1; proto-oncogene tyrosine-protein kinase ABL1 [Homo sapiens]. ACCESSION NP_009297 VERSION NP_009297.1 GI:6382058 DBSOURCE REFSEQ: accession NM_007313.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1148) AUTHORS Sacha,T., Hochhaus,A., Hanfstein,B., Muller,M.C., Rudzki,Z., Czopek,J., Wolska-Smolen,T., Czekalska,S., Salamanchuk,Z., Jakobczyk,M. and Skotnicki,A.B. TITLE ABL-kinase domain point mutation as a cause of imatinib (STI571) resistance in CML patient who progress to myeloid blast crisis JOURNAL Leuk. Res. 27 (12), 1163-1166 (2003) PUBMED 12921956 REMARK GeneRIF: ABL-kinase domain point mutation as a cause of imatinib resistance in CML patient who progress to myeloid blast crisis REFERENCE 2 (residues 1 to 1148) AUTHORS Puccetti,E., Beissert,T., Guller,S., Li,J.E., Hoelzer,D., Ottmann,O.G. and Ruthardt,M. TITLE Leukemia-associated translocation products able to activate RAS modify PML and render cells sensitive to arsenic-induced apoptosis JOURNAL Oncogene 22 (44), 6900-6908 (2003) PUBMED 14534537 REMARK GeneRIF: ABL fuses with BCR to form a fusion protein. REFERENCE 3 (residues 1 to 1148) AUTHORS Zhou,H.X. TITLE How often does the myristoylated N-terminal latch of c-Abl come off? JOURNAL FEBS Lett. 552 (2-3), 160-162 (2003) PUBMED 14527680 REMARK GeneRIF: the equilibrium fraction of c-Abl in which the myristoylated N-terminal is unlatched is approximately 0.5% REFERENCE 4 (residues 1 to 1148) AUTHORS Cao,C., Leng,Y., Liu,X., Yi,Y., Li,P. and Kufe,D. TITLE Catalase is regulated by ubiquitination and proteosomal degradation. Role of the c-Abl and Arg tyrosine kinases JOURNAL Biochemistry 42 (35), 10348-10353 (2003) PUBMED 12950161 REMARK GeneRIF: findings indicate that, in addition to stimulating catalase activity, c-Abl and Arg promote catalase degradation in the oxidative stress response REFERENCE 5 (residues 1 to 1148) AUTHORS Cheng,W.H., von Kobbe,C., Opresko,P.L., Fields,K.M., Ren,J., Kufe,D. and Bohr,V.A. TITLE Werner syndrome protein phosphorylation by abl tyrosine kinase regulates its activity and distribution JOURNAL Mol. Cell. Biol. 23 (18), 6385-6395 (2003) PUBMED 12944467 REMARK GeneRIF: we have identified a direct binding between WRN and c-Abl in vitro via the N-terminal and central regions of WRN and the Src homology domain 3 of c-Abl. These findings suggest a novel signaling pathway REFERENCE 6 (residues 1 to 1148) AUTHORS Ben-Yehoyada,M., Ben-Dor,I. and Shaul,Y. TITLE c-Abl tyrosine kinase selectively regulates p73 nuclear matrix association JOURNAL J. Biol. Chem. 278 (36), 34475-34482 (2003) PUBMED 12824179 REMARK GeneRIF: c-Abl tyrosine kinase selectively regulates p73 nuclear matrix association REFERENCE 7 (residues 1 to 1148) AUTHORS Truong,T., Sun,G., Doorly,M., Wang,J.Y. and Schwartz,M.A. TITLE Modulation of DNA damage-induced apoptosis by cell adhesion is independently mediated by p53 and c-Abl JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (18), 10281-10286 (2003) PUBMED 12928501 REMARK GeneRIF: differential utilization of the p53 and c-Abl/p73 pathways by different tumor cell line. REFERENCE 8 (residues 1 to 1148) AUTHORS Jaiswal,S., Traver,D., Miyamoto,T., Akashi,K., Lagasse,E. and Weissman,I.L. TITLE Expression of BCR/ABL and BCL-2 in myeloid progenitors leads to myeloid leukemias JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (17), 10002-10007 (2003) PUBMED 12890867 REMARK GeneRIF: Expression of BCR/ABL and BCL-2 in myeloid progenitors leads to myeloid leukemias. REFERENCE 9 (residues 1 to 1148) AUTHORS Cao,C., Leng,Y. and Kufe,D. TITLE Catalase activity is regulated by c-Abl and Arg in the oxidative stress response JOURNAL J. Biol. Chem. 278 (32), 29667-29675 (2003) PUBMED 12777400 REMARK GeneRIF: c-Abl and Arg regulate catalase and that this signaling pathway is of importance to apoptosis in the oxidative stress response REFERENCE 10 (residues 1 to 1148) AUTHORS Master,Z., Tran,J., Bishnoi,A., Chen,S.H., Ebos,J.M., Van Slyke,P., Kerbel,R.S. and Dumont,D.J. TITLE Dok-R binds c-Abl and regulates Abl kinase activity and mediates cytoskeletal reorganization JOURNAL J. Biol. Chem. 278 (32), 30170-30179 (2003) PUBMED 12777393 REMARK GeneRIF: Dok-R and c-Abl interact in both a constitutive and inducible fashion and Dok-R influences the intracellular kinase and biological activity of c-Abl REFERENCE 11 (residues 1 to 1148) AUTHORS Chien,W., Tidow,N., Williamson,E.A., Shih,L.Y., Krug,U., Kettenbach,A., Fermin,A.C., Roifman,C.M. and Koeffler,H.P. TITLE Characterization of a myeloid tyrosine phosphatase, Lyp, and its role in the Bcr-Abl signal transduction pathway JOURNAL J. Biol. Chem. 278 (30), 27413-27420 (2003) PUBMED 12764153 REMARK GeneRIF: BCR-ABL is inhibited by lyp tyrosine phosphatase REFERENCE 12 (residues 1 to 1148) AUTHORS Branford,S., Rudzki,Z., Walsh,S., Parkinson,I., Grigg,A., Szer,J., Taylor,K., Herrmann,R., Seymour,J.F., Arthur,C., Joske,D., Lynch,K. and Hughes,T. TITLE Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis JOURNAL Blood 102 (1), 276-283 (2003) PUBMED 12623848 REMARK GeneRIF: detection of kinase domain mutations was almost always associated with imatinib resistance, and patients with mutations in the P-loop had a particularly poor prognosis REFERENCE 13 (residues 1 to 1148) AUTHORS Tsai,K.K. and Yuan,Z.M. TITLE c-Abl stabilizes p73 by a phosphorylation-augmented interaction JOURNAL Cancer Res. 63 (12), 3418-3424 (2003) PUBMED 12810679 REMARK GeneRIF: c-Abl increases the cellular p73 abundance through posttranslational regulation. Kinase activity is essential for c-Abl to up-regulate p73. c-Abl contributes to either pro- or antiapoptotic process depending on the expression profile of p73 isoforms. REFERENCE 14 (residues 1 to 1148) AUTHORS Gargallo,P.M., Cuello,M.T., Aranguren,P.N. and Larripa,I.B. TITLE Amplification of the BCR/ABL fusion gene clustered on a masked Philadelphia chromosome in a patient with myeloblastic crisis of chronic myelocytic leukemia JOURNAL Cancer Genet. Cytogenet. 143 (2), 140-144 (2003) PUBMED 12781448 REMARK GeneRIF: BCR/ABL amplification may play a role as a novel mechanism in the progression to an aggressive blast transformation in some cases of Philadelphia chromosome-positive chronic myelocytic leukemia REFERENCE 15 (residues 1 to 1148) AUTHORS Tani,K., Sato,S., Sukezane,T., Kojima,H., Hirose,H., Hanafusa,H. and Shishido,T. TITLE Abl interactor 1 promotes tyrosine 296 phosphorylation of mammalian enabled (Mena) by c-Abl kinase JOURNAL J. Biol. Chem. 278 (24), 21685-21692 (2003) PUBMED 12672821 REMARK GeneRIF: c-Abl-mediated phosphorylation of Mena is regulated by Abi-1 REFERENCE 16 (residues 1 to 1148) AUTHORS Barila,D., Rufini,A., Condo,I., Ventura,N., Dorey,K., Superti-Furga,G. and Testi,R. TITLE Caspase-dependent cleavage of c-Abl contributes to apoptosis JOURNAL Mol. Cell. Biol. 23 (8), 2790-2799 (2003) PUBMED 12665579 REMARK GeneRIF: mechanism by which caspases can recruit c-Abl to the nuclear compartment and to the mammalian apoptotic program REFERENCE 17 (residues 1 to 1148) AUTHORS Yuan,S.S., Chang,H.L. and Lee,E.Y. TITLE Ionizing radiation-induced Rad51 nuclear focus formation is cell cycle-regulated and defective in both ATM(-/-) and c-Abl(-/-) cells JOURNAL Mutat. Res. 525 (1-2), 85-92 (2003) PUBMED 12650908 REMARK GeneRIF: In conclusion, effective and prompt IR-induced Rad51 focus formation is cell cycle-regulated and requires both ATM and c-Abl. REFERENCE 18 (residues 1 to 1148) AUTHORS Hantschel,O., Nagar,B., Guettler,S., Kretzschmar,J., Dorey,K., Kuriyan,J. and Superti-Furga,G. TITLE A myristoyl/phosphotyrosine switch regulates c-Abl JOURNAL Cell 112 (6), 845-857 (2003) PUBMED 12654250 REMARK GeneRIF: This gene is regulated by a myristoyl/phosphotyrosine switch. REFERENCE 19 (residues 1 to 1148) AUTHORS Traina,F., Carvalheira,J.B., Saad,M.J., Costa,F.F. and Saad,S.T. TITLE BCR-ABL binds to IRS-1 and IRS-1 phosphorylation is inhibited by imatinib in K562 cells JOURNAL FEBS Lett. 535 (1-3), 17-22 (2003) PUBMED 12560071 REMARK GeneRIF: concluded that the IRS-1 protein is involved in the signalling pathway of the BCR-ABL tyrosine kinase REFERENCE 20 (residues 1 to 1148) AUTHORS Strife,A., Wisniewski,D., Liu,C., Lambek,C.L., Darzynkiewicz,Z., Silver,R.T. and Clarkson,B. TITLE Direct evidence that Bcr-Abl tyrosine kinase activity disrupts normal synergistic interactions between Kit ligand and cytokines in primary primitive progenitor cells JOURNAL Mol. Cancer Res. 1 (3), 176-185 (2003) PUBMED 12556557 REMARK GeneRIF: constitutively activated Bcr-Abl kinase pathways in primitive CML progenitors cooperate with growth factors producing a growth response and disrupt the normally required synergistic interactions between kit ligand and other cytokines to achieve activation REFERENCE 21 (residues 1 to 1148) AUTHORS Aboura,A., Labrune,P., Perreaux,F., Poncet,V., Brisset,S., Foix-L'Helias,L. and Tachdjian,G. TITLE Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation JOURNAL J. Med. Genet. 40 (1), E6 (2003) PUBMED 12525554 REMARK GeneRIF: An inherited, apparently balanced translocation involving chromosomes 3(q22), 22(q12), and 9(q34.1, resulting from meiotic recombination, leads to deletion in the ABL gene in a child with axial hypotonia and dysmorphism. ) REFERENCE 22 (residues 1 to 1148) AUTHORS Warmuth,M., Simon,N., Mitina,O., Mathes,R., Fabbro,D., Manley,P.W., Buchdunger,E., Forster,K., Moarefi,I. and Hallek,M. TITLE Dual-specific Src and Abl kinase inhibitors, PP1 and CGP76030, inhibit growth and survival of cells expressing imatinib mesylate-resistant Bcr-Abl kinases JOURNAL Blood 101 (2), 664-672 (2003) PUBMED 12393636 REMARK GeneRIF: point mutations in Abl that rendered Bcr-Abl imatinib mesylate-resistant, including a mutation that destabilized the inactive conformation of Abl suggesting that the inhibitor required inactivation of the kinase prior to binding. REFERENCE 23 (residues 1 to 1148) AUTHORS Donaldson,L.W., Gish,G., Pawson,T., Kay,L.E. and Forman-Kay,J.D. TITLE Structure of a regulatory complex involving the Abl SH3 domain, the Crk SH2 domain, and a Crk-derived phosphopeptide JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (22), 14053-14058 (2002) PUBMED 12384576 REMARK GeneRIF: determined the NMR solution structure of the ternary complex of the Abl SH3 domain with the Crk SH2 domain bound to a Crk pY221 phosphopeptide REFERENCE 24 (residues 1 to 1148) AUTHORS Keung,Y.K., Beaty,M., Steward,W., Jackle,B. and Pettnati,M. TITLE Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature JOURNAL Cancer Genet. Cytogenet. 138 (2), 139-142 (2002) PUBMED 12505259 REMARK GeneRIF: Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature. REFERENCE 25 (residues 1 to 1148) AUTHORS Pendergast,A.M. TITLE The Abl family kinases: mechanisms of regulation and signaling JOURNAL Adv. Cancer Res. 85, 51-100 (2002) PUBMED 12374288 REMARK GeneRIF: Review. ABL protein tyrosine kinases regulate cell proliferation, survival, adhesion, migration, stress responses, and cytoskeletal dynamics. REFERENCE 26 (residues 1 to 1148) AUTHORS Bianchi,C., Muradore,I., Corizzato,M., Cornacchini,G., Beretta,L., Erba,E., Del Monte,U. and A Perego,R. TITLE The expression of the non-receptor tyrosine kinases Arg and c-abl is differently modulated in B lymphoid cells at different stages of differentiation JOURNAL FEBS Lett. 527 (1-3), 216-222 (2002) PUBMED 12220663 REMARK GeneRIF: The data showed that c-abl expression is differently modified in lymphoid B cell lines. REFERENCE 27 (residues 1 to 1148) AUTHORS Roumiantsev,S., Shah,N.P., Gorre,M.E., Nicoll,J., Brasher,B.B., Sawyers,C.L. and Van Etten,R.A. TITLE Clinical resistance to the kinase inhibitor STI-571 in chronic myeloid leukemia by mutation of Tyr-253 in the Abl kinase domain P-loop JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (16), 10700-10705 (2002) PUBMED 12149456 REMARK GeneRIF: mutations of Tyr-253 in the nucleotide-binding (P) loop of the Abl kinase domain to Phe or His in patients with advanced CML and acquired STI-571 resistance REFERENCE 28 (residues 1 to 1148) AUTHORS Roche-Lestienne,C., Soenen-Cornu,V., Grardel-Duflos,N., Lai,J.L., Philippe,N., Facon,T., Fenaux,P. and Preudhomme,C. TITLE Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment JOURNAL Blood 100 (3), 1014-1018 (2002) PUBMED 12130516 REMARK GeneRIF: Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment. REFERENCE 29 (residues 1 to 1148) AUTHORS Wu,B., Zhou,S., Song,L. and Liu,X. TITLE Clinical significance of dual color-dual fusion translocation fluorescence in situ hybridization in the detection of bcr/abl fusion gene JOURNAL Zhonghua Zhong Liu Za Zhi 24 (4), 364-366 (2002) PUBMED 12408765 REMARK GeneRIF: expression of bcr/abl hybridized gene in chronic myeloid leukemia (CML), acute lymphatic leukemia (ALL) and polycythemia vera (PV), and its clinical significance REFERENCE 30 (residues 1 to 1148) AUTHORS Era,T. TITLE Bcr-Abl is a 'molecular switch' for the decision for growth and differentiation in hematopoietic stem cells JOURNAL Int. J. Hematol. 76 (1), 35-43 (2002) PUBMED 12138893 REMARK GeneRIF: This review focuses on how Bcr-Abl affects HSCs and how Bcr-Abl expression alters the properties of HSCs. REFERENCE 31 (residues 1 to 1148) AUTHORS Kim,Y.J., Kim,D.W., Lee,S., Kim,H.J., Kim,Y.L., Hwang,J.Y., Oh,I.H., Park,Y.H., Lee,Y.K., Min,C.K., Kim,T.G., Han,T.H., Min,W.S. and Kim,C.C. TITLE Comprehensive comparison of FISH, RT-PCR, and RQ-PCR for monitoring the BCR-ABL gene after hematopoietic stem cell transplantation in CML JOURNAL Eur. J. Haematol. 68 (5), 272-280 (2002) PUBMED 12144533 REMARK GeneRIF: chronic myelogenous leukemia characterized by translocation between chromosomes 9 and 22 forming a BCR-ABL gene, a specific marker for this disease. REFERENCE 32 (residues 1 to 1148) AUTHORS Zhao,X., Ghaffari,S., Lodish,H., Malashkevich,V.N. and Kim,P.S. TITLE Structure of the Bcr-Abl oncoprotein oligomerization domain JOURNAL Nat. Struct. Biol. 9 (2), 117-120 (2002) PUBMED 11780146 REMARK GeneRIF: crystal structure of the Bcr-Abl oncoprotein oligomerization domain REFERENCE 33 (residues 1 to 1148) AUTHORS Sanchez-Prieto,R., Sanchez-Arevalo,V.J., Servitja,J.M. and Gutkind,J.S. TITLE Regulation of p73 by c-Abl through the p38 MAP kinase pathway JOURNAL Oncogene 21 (6), 974-979 (2002) PUBMED 11840343 REMARK GeneRIF: regulates p73 through p38 MAP kinase pathway REFERENCE 34 (residues 1 to 1148) AUTHORS Kim,D.W. TITLE Real time quantitative PCR JOURNAL Exp. Mol. Med. 33 (1 Suppl), 101-109 (2001) PUBMED 11708318 REMARK GeneRIF: The abl protein was analyzed by real time quantitative PCR. REFERENCE 35 (residues 1 to 1148) AUTHORS Gong,J.G., Costanzo,A., Yang,H.Q., Melino,G., Kaelin,W.G. Jr., Levrero,M. and Wang,J.Y. TITLE The tyrosine kinase c-Abl regulates p73 in apoptotic response to cisplatin-induced DNA damage JOURNAL Nature 399 (6738), 806-809 (1999) PUBMED 10391249 REFERENCE 36 (residues 1 to 1148) 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. et al. 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 37 (residues 1 to 1148) AUTHORS Welch,P.J. and Wang,J.Y. TITLE A C-terminal protein-binding domain in the retinoblastoma protein regulates nuclear c-Abl tyrosine kinase in the cell cycle JOURNAL Cell 75 (4), 779-790 (1993) PUBMED 8242749 REFERENCE 38 (residues 1 to 1148) 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 39 (residues 1 to 1148) AUTHORS Adams,M.D., Dubnick,M., Kerlavage,A.R., Moreno,R., Kelley,J.M., Utterback,T.R., Nagle,J.W., Fields,C. and Venter,J.C. TITLE Sequence identification of 2,375 human brain genes JOURNAL Nature 355 (6361), 632-634 (1992) PUBMED 1538749 REFERENCE 40 (residues 1 to 1148) 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 41 (residues 1 to 1148) AUTHORS Szczylik,C., Skorski,T., Nicolaides,N.C., Manzella,L., Malaguarnera,L., Venturelli,D., Gewirtz,A.M. and Calabretta,B. TITLE Selective inhibition of leukemia cell proliferation by BCR-ABL antisense oligodeoxynucleotides JOURNAL Science 253 (5019), 562-565 (1991) PUBMED 1857987 REFERENCE 42 (residues 1 to 1148) 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 43 (residues 1 to 1148) AUTHORS Zhu,Q.S., Heisterkamp,N. and Groffen,J. TITLE Characterization of the human ABL promoter regions JOURNAL Oncogene 5 (6), 885-891 (1990) PUBMED 2163052 REFERENCE 44 (residues 1 to 1148) AUTHORS Fainstein,E., Einat,M., Gokkel,E., Marcelle,C., Croce,C.M., Gale,R.P. and Canaani,E. TITLE Nucleotide sequence analysis of human abl and bcr-abl cDNAs JOURNAL Oncogene 4 (12), 1477-1481 (1989) PUBMED 2687768 REFERENCE 45 (residues 1 to 1148) 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 46 (residues 1 to 1148) AUTHORS Fainstein,E., Marcelle,C., Rosner,A., Canaani,E., Gale,R.P., Dreazen,O., Smith,S.D. and Croce,C.M. TITLE A new fused transcript in Philadelphia chromosome positive acute lymphocytic leukaemia JOURNAL Nature 330 (6146), 386-388 (1987) PUBMED 2825022 REFERENCE 47 (residues 1 to 1148) AUTHORS Bernards,A., Rubin,C.M., Westbrook,C.A., Paskind,M. and Baltimore,D. TITLE The first intron in the human c-abl gene is at least 200 kilobases long and is a target for translocations in chronic myelogenous leukemia JOURNAL Mol. Cell. Biol. 7 (9), 3231-3236 (1987) PUBMED 3313010 REFERENCE 48 (residues 1 to 1148) AUTHORS Shtivelman,E., Lifshitz,B., Gale,R.P., Roe,B.A. and Canaani,E. TITLE Alternative splicing of RNAs transcribed from the human abl gene and from the bcr-abl fused gene JOURNAL Cell 47 (2), 277-284 (1986) PUBMED 3021337 REFERENCE 49 (residues 1 to 1148) 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 50 (residues 1 to 1148) 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 51 (residues 1 to 1148) AUTHORS Shtivelman,E., Lifshitz,B., Gale,R.P. and Canaani,E. TITLE Fused transcript of abl and bcr genes in chronic myelogenous leukaemia JOURNAL Nature 315 (6020), 550-554 (1985) PUBMED 2989692 REFERENCE 52 (residues 1 to 1148) 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 53 (residues 1 to 1148) 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 54 (residues 1 to 1148) AUTHORS Heisterkamp,N., Groffen,J. and Stephenson,J.R. TITLE The human v-abl cellular homologue JOURNAL J. Mol. Appl. Genet. 2 (1), 57-68 (1983) PUBMED 6302194 REFERENCE 55 (residues 1 to 1148) AUTHORS Groffen,J., Heisterkamp,N., Reynolds,F.H. Jr. and Stephenson,J.R. TITLE Homology between phosphotyrosine acceptor site of human c-abl and viral oncogene products JOURNAL Nature 304 (5922), 167-169 (1983) PUBMED 6191223 REFERENCE 56 (residues 1 to 1148) 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 57 (residues 1 to 1148) AUTHORS Mount,S.M. TITLE A catalogue of splice junction sequences JOURNAL Nucleic Acids Res. 10 (2), 459-472 (1982) PUBMED 7063411 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from M14752.1, M14753.1 and X16416.1. Summary: The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. Transcript Variant: Transcript variant b includes exon 1b, but not exon 1a, resulting in a different N-terminus. This variant contains an N-terminal glycine which could be myristylated and is thus postulated to be directed to the plasma membrane. FEATURES Location/Qualifiers source 1..1148 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q34.1" Protein 1..1148 /product="v-abl Abelson murine leukemia viral oncogene homolog 1 isoform b" /EC_number="2.7.1.112" /note="Abelson murine leukemia viral (v-abl) oncogene homolog 1; proto-oncogene tyrosine-protein kinase ABL1" Region 42..1148 /region_name="Protein tyrosine kinase [Signal transduction mechanisms]" /note="KOG4278" /db_xref="CDD:22054" Region 83..137 /region_name="SH3 domain" /note="SH3" /db_xref="CDD:22871" Region 145..234 /region_name="Src homology 2 domains" /note="SH2" /db_xref="CDD:16538" Region 252..514 /region_name="Tyrosine kinase, catalytic domain" /note="TyrKc" /db_xref="CDD:5392" CDS 1..1148 /gene="ABL1" /coded_by="NM_007313.1:1..3447" /note="isoform b is encoded by transcript variant b; go_component: nucleus [goid 0005634] [evidence NR]; go_function: protein-tyrosine kinase activity [goid 0004713] [evidence TAS] [pmid 10391249]; go_function: DNA binding [goid 0003677] [evidence NR]; go_function: ATP binding [goid 0005524] [evidence IEA]; go_function: transferase activity [goid 0016740] [evidence IEA]; go_process: S-specific transcription in mitotic cell cycle [goid 0000115] [evidence TAS] [pmid 8242749]; go_process: DNA damage response, signal transduction resulting in induction of apoptosis [goid 0008630] [evidence TAS] [pmid 10391249]; go_process: mismatch repair [goid 0006298] [evidence TAS] [pmid 10391249]; go_process: regulation of transcription, DNA-dependent [goid 0006355] [evidence TAS] [pmid 8242749]; go_process: oncogenesis [goid 0007048] [evidence TAS] [pmid 2825022]; go_process: regulation of cell cycle [goid 0000074] [evidence TAS] [pmid 8242749]; go_process: protein modification [goid 0006464] [evidence NR]; go_process: cell growth and/or maintenance [goid 0008151] [evidence IEA]; go_process: protein amino acid phosphorylation [goid 0006468] [evidence IEA]; go_process: intracellular signaling cascade [goid 0007242] [evidence IEA]" /db_xref="GeneID:25" /db_xref="LocusID:25" /db_xref="MIM:189980" ORIGIN 1 mgqqpgkvlg dqrrpslpal hfikgagkke ssrhggphcn vfveqalqrp vasdfepqgl 61 seaarwnske nllagpsend pnlfvalydf vasgdntlsi tkgeklrvlg ynhngewcea 121 qtkngqgwvp snyitpvnsl ekhswyhgpv srnaaeypls sgingsflvr esesspsqrs 181 islryegrvy hyrintasdg klyvssesrf ntlaelvhhh stvadglitt lhypapkrnk 241 ptvygvspny dkwemertdi tmkhklgggq ygevyegvwk kysltvavkt lkedtmevee 301 flkeaavmke ikhpnlvqll gvctreppfy iitefmtygn lldylrecnr qevnavvlly 361 matqissame ylekknfihr dlaarnclvg enhlvkvadf glsrlmtgdt ytahagakfp 421 ikwtapesla ynkfsiksdv wafgvllwei atygmspypg idrsqvyell ekdyrmkrpe 481 gcpekvyelm racwqwnpsd rpsfaeihqa fetmfqessi sdevekelgk qgvrgavttl 541 lqapelptkt rtsrraaehr dttdvpemph skgqgesdpl dhepavspll prkergppeg 601 glnederllp kdkktnlfsa likkkkktap tppkrsssfr emdgqperrg ageeegrdis 661 ngalaftpld tadpakspkp sngagvpnga lresggsgfr sphlwkksst ltssrlatge 721 eegggssskr flrscsvscv phgakdtewr svtlprdlqs tgrqfdsstf gghksekpal 781 prkragenrs dqvtrgtvtp pprlvkknee aadevfkdim esspgssppn ltpkplrrqv 841 tvapasglph keeawkgsal gtpaaaepvt ptskagsgap rgtskgpaee srvrrhkhss 901 espgrdkgkl sklkpapppp paasagkagg kpsqrpgqea ageavlgakt katslvdavn 961 sdaakpsqpa eglkkpvlpa tpkphpakps gtpispapvp lstlpsassa lagdqpssta 1021 fiplistrvs lrktrqpper asgaitkgvv ldstealcla isgnseqmas hsavleagkn 1081 lytfcvsyvd siqqmrnkfa freainklen nlrelqicpa sagsgpaatq dfskllssvk 1141 eisdivqr //