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Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.
| RefSeq Version | NM_005157.4, 317108181 |
| Length | 5388 bp |
| Structure | linear |
| Update Date | 10-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. |
| Product | tyrosine-protein kinase ABL1 isoform a |
| Comment | 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. [provided by RefSeq]. Transcript Variant: This variant (a) includes exon 1a, but not exon 1b, resulting in a different N-terminus. This variant is localized in the nucleus. |
| RefSeq | NP_005148.2 |
| CDS | 4..3396 | Exon (1) | 1..82 | Exon (2) | 1..82 | Exon (3) | 83..256 | Exon (4) | 257..552 | Exon (5) | 553..825 | Exon (6) | 826..910 | Exon (7) | 911..1088 | Exon (8) | 1089..1273 | Exon (9) | 1274..1426 | Exon (10) | 1427..1516 | Exon (11) | 1517..1681 | Exon (12) | 1682..5388 |
| Translation | MLEICLKLVGCKSKKGLSSSSSCYLEEALQRPVASDFEPQGLSEAARWNSKENLLAGPSE
NDPNLFVALYDFVASGDNTLSITKGEKLRVLGYNHNGEWCEAQTKNGQGWVPSNYITPVN
SLEKHSWYHGPVSRNAAEYLLSSGINGSFLVRESESSPGQRSISLRYEGRVYHYRINTAS
DGKLYVSSESRFNTLAELVHHHSTVADGLITTLHYPAPKRNKPTVYGVSPNYDKWEMERT
DITMKHKLGGGQYGEVYEGVWKKYSLTVAVKTLKEDTMEVEEFLKEAAVMKEIKHPNLVQ
LLGVCTREPPFYIITEFMTYGNLLDYLRECNRQEVNAVVLLYMATQISSAMEYLEKKNFI
HRDLAARNCLVGENHLVKVADFGLSRLMTGDTYTAHAGAKFPIKWTAPESLAYNKFSIKS
DVWAFGVLLWEIATYGMSPYPGIDLSQVYELLEKDYRMERPEGCPEKVYELMRACWQWNP
SDRPSFAEIHQAFETMFQESSISDEVEKELGKQGVRGAVSTLLQAPELPTKTRTSRRAAE
HRDTTDVPEMPHSKGQGESDPLDHEPAVSPLLPRKERGPPEGGLNEDERLLPKDKKTNLF
SALIKKKKKTAPTPPKRSSSFREMDGQPERRGAGEEEGRDISNGALAFTPLDTADPAKSP
KPSNGAGVPNGALRESGGSGFRSPHLWKKSSTLTSSRLATGEEEGGGSSSKRFLRSCSAS
CVPHGAKDTEWRSVTLPRDLQSTGRQFDSSTFGGHKSEKPALPRKRAGENRSDQVTRGTV
TPPPRLVKKNEEAADEVFKDIMESSPGSSPPNLTPKPLRRQVTVAPASGLPHKEEAGKGS
ALGTPAAAEPVTPTSKAGSGAPGGTSKGPAEESRVRRHKHSSESPGRDKGKLSRLKPAPP
PPPAASAGKAGGKPSQSPSQEAAGEAVLGAKTKATSLVDAVNSDAAKPSQPGEGLKKPVL
PATPKPQSAKPSGTPISPAPVPSTLPSASSALAGDQPSSTAFIPLISTRVSLRKTRQPPE
RIASGAITKGVVLDSTEALCLAISRNSEQMASHSAVLEAGKNLYTFCVSYVDSIQQMRNK
FAFREAINKLENNLRELQICPATAGSGPAATQDFSKLLSSVKEISDIVQR
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| Position | Chain | Variation | Link |
| Gene Symbol | ABL1 |
| Gene Synonym | ABL; bcr/abl; c-ABL; JTK7; p150; v-abl |
| Chromosome | 9 |
| Locus Map | 9q34.1 |
| All Transcripts | NM_005157 , NM_007313 |
| Title | Inhibition of Grb2 expression demonstrates an important role in BCR-ABL-mediated MAPK activation and transformation of primary human hematopoietic cells . |
| Author | Modi,H., Li,L., Chu,S., Rossi,J., Yee,J.K. and Bhatia,R. |
| Journal | Leukemia 25 (2), 305-312 (2011) |
| Title | BCR-ABL stimulates mutagenic homologous DNA double-strand break repair via the DNA-end-processing factor CtIP . |
| Author | Salles,D., Mencalha,A.L., Ireno,I.C., Wiesmuller,L. and Abdelhay,E. |
| Journal | Carcinogenesis 32 (1), 27-34 (2011) |
| Title | Abl kinases are required for invadopodia formation and chemokine-induced invasion . |
| Author | Smith-Pearson,P.S., Greuber,E.K., Yogalingam,G. and Pendergast,A.M. |
| Journal | J. Biol. Chem. 285 (51), 40201-40211 (2010) |
| Title | Abl tyrosine kinase phosphorylates nonmuscle Myosin light chain kinase to regulate endothelial barrier function . |
| Author | Dudek,S.M., Chiang,E.T., Camp,S.M., Guo,Y., Zhao,J., Brown,M.E., Singleton,P.A., Wang,L., Desai,A., Arce,F.T., Lal,R., Van Eyk,J.E., Imam,S.Z. and Garcia,J.G. |
| Journal | Mol. Biol. Cell 21 (22), 4042-4056 (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 | Secondary structure of Src homology 2 domain of c-Abl by heteronuclear NMR spectroscopy in solution . |
| Author | Overduin,M., Mayer,B., Rios,C.B., Baltimore,D. and Cowburn,D. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 89 (24), 11673-11677 (1992) |
| Title | A limited set of SH2 domains binds BCR through a high-affinity phosphotyrosine-independent interaction . |
| Author | Muller,A.J., Pendergast,A.M., Havlik,M.H., Puil,L., Pawson,T. and Witte,O.N. |
| Journal | Mol. Cell. Biol. 12 (11), 5087-5093 (1992) |
| Title | Three-dimensional solution structure of the src homology 2 domain of c-abl . |
| Author | Overduin,M., Rios,C.B., Mayer,B.J., Baltimore,D. and Cowburn,D. |
| Journal | Cell 70 (4), 697-704 (1992) |
| Title | Identification of a protein that binds to the SH3 region of Abl and is similar to Bcr and GAP-rho . |
| Author | Cicchetti,P., Mayer,B.J., Thiel,G. and Baltimore,D. |
| Journal | Science 257 (5071), 803-806 (1992) |
| Title | Sequence identification of 2,375 human brain genes . |
| Author | 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. |
| Journal | Nature 355 (6361), 632-634 (1992) |
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