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Abl gene - Wikipedia, the free encyclopedia

Abl gene

From Wikipedia, the free encyclopedia


V-abl Abelson murine leukemia viral oncogene homolog 1
PDB rendering based on 1ab2.
Available structures: 1ab2, 1abo, 1abq, 1awo, 1bbz, 1fpu, 1iep, 1ju5, 1m52, 1opj, 1opk, 1opl, 1zzp, 2abl, 2e2b, 2f4j, 2fo0, 2g1t, 2g2f, 2g2h, 2g2i, 2gqg, 2hiw, 2hyy, 2hz0, 2hz4, 2hzi, 2hzn, 2o88
Identifiers
Symbol(s) ABL1; ABL; JTK7; bcr/abl; c-ABL; p150; v-abl
External IDs OMIM: 189980 MGI87859 HomoloGene3783
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 25 11350
Ensembl ENSG00000097007 ENSMUSG00000026842
Uniprot P00519 Q3SYK5
Refseq NM_005157 (mRNA)
NP_005148 (protein)
NM_009594 (mRNA)
NP_033724 (protein)
Location Chr 9: 132.58 - 132.75 Mb Chr 2: 31.51 - 31.63 Mb
Pubmed search [1] [2]

The abl gene is associated with chronic myelogenous leukemia (CML). The abl gene is located on the 9th chromosome. In CML, the gene is activated by being translocated within the bcr (breakpoint cluster region) gene on chromosome 22. This new abl/bcr (chimeric) gene encodes an unregulated, cytoplasm targetted tyrosine kinase which allows the cells to proliferate without being regulated by cytokines. This in turn allows the cell to become cancerous.

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.[1]

This gene is fused with the bcr gene in a Philadelphia chromosome, the characteristic abnormality in chronic myelogenous leukemia (CML) and rarely in some other leukemia forms. The bcr-abl transcript is also a tyrosine kinase, which activates mediators of the cell cycle regulation system, leading to a clonal myeloproliferative disorder. The bcr-abl protein can be inhibited with the agent imatinib mesylate, which occupies the TK domain and inhibits bcr-abls influence on the cell cycle.

Contents

[edit] References

[edit] Further reading

  • Clark, Stevens. "Publications." Research Papers 1986-1989. <http://www.humonc.wisc.edu/clark/publications_abstract1x.html>
  • Dunitz, Martin. "Chronic Myeloid Leukaemia" 2001. Taylor & Francis, Limited. Published online via Ebrary.com
  • Scott K Shore, Ramana V Tantravahi and E Premkumar Reddy. "Transforming pathways activated by the v-Abl tyrosine kinase" 9 Dec. 2002. <http://www.nature.com/onc/journal/v21/n56/full/1206084a.html>
  • Shaul Y (2000). "c-Abl: activation and nuclear targets.". Cell Death Differ. 7 (1): 10–6. doi:10.1038/sj.cdd.4400626. PMID 10713716. 
  • Era T (2002). "Bcr-Abl is a "molecular switch" for the decision for growth and differentiation in hematopoietic stem cells.". Int. J. Hematol. 76 (1): 35–43. PMID 12138893. 
  • Pendergast AM (2003). "The Abl family kinases: mechanisms of regulation and signaling.". Adv. Cancer Res. 85: 51–100. PMID 12374288. 
  • Keung YK, Beaty M, Steward W, et al. (2003). "Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature.". Cancer Genet. Cytogenet. 138 (2): 139–42. PMID 12505259. 
  • Saglio G, Cilloni D (2005). "Abl: the prototype of oncogenic fusion proteins.". Cell. Mol. Life Sci. 61 (23): 2897–911. doi:10.1007/s00018-004-4271-0. PMID 15583852. 
  • Shaul Y, Ben-Yehoyada M (2005). "Role of c-Abl in the DNA damage stress response.". Cell Res. 15 (1): 33–5. doi:10.1038/sj.cr.7290261. PMID 15686624. 
  • Yoshida K (2007). "Regulation for nuclear targeting of the Abl tyrosine kinase in response to DNA damage.". Adv. Exp. Med. Biol. 604: 155–65. PMID 17695727. 

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aa - ab - af - ak - als - am - an - ang - ar - arc - as - ast - av - ay - az - ba - bar - bat_smg - bcl - be - be_x_old - bg - bh - bi - bm - bn - bo - bpy - br - bs - bug - bxr - ca - cbk_zam - cdo - ce - ceb - ch - cho - chr - chy - co - cr - crh - cs - csb - cu - cv - cy - da - de - diq - dsb - dv - dz - ee - el - eml - en - eo - es - et - eu - ext - fa - ff - fi - fiu_vro - fj - fo - fr - frp - fur - fy - ga - gan - gd - gl - glk - gn - got - gu - gv - ha - hak - haw - he - hi - hif - ho - hr - hsb - ht - hu - hy - hz - ia - id - ie - ig - ii - ik - ilo - io - is - it - iu - ja - jbo - jv - ka - kaa - kab - kg - ki - kj - kk - kl - km - kn - ko - kr - ks - ksh - ku - kv - kw - ky - la - lad - lb - lbe - lg - li - lij - lmo - ln - lo - lt - lv - map_bms - mdf - mg - mh - mi - mk - ml - mn - mo - mr - mt - mus - my - myv - mzn - na - nah - nap - nds - nds_nl - ne - new - ng - nl - nn - no - nov - nrm - nv - ny - oc - om - or - os - pa - pag - pam - pap - pdc - pi - pih - pl - pms - ps - pt - qu - quality - rm - rmy - rn - ro - roa_rup - roa_tara - ru - rw - sa - sah - sc - scn - sco - sd - se - sg - sh - si - simple - sk - sl - sm - sn - so - sr - srn - ss - st - stq - su - sv - sw - szl - ta - te - tet - tg - th - ti - tk - tl - tlh - tn - to - tpi - tr - ts - tt - tum - tw - ty - udm - ug - uk - ur - uz - ve - vec - vi - vls - vo - wa - war - wo - wuu - xal - xh - yi - yo - za - zea - zh - zh_classical - zh_min_nan - zh_yue - zu -

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aa - ab - af - ak - als - am - an - ang - ar - arc - as - ast - av - ay - az - ba - bar - bat_smg - bcl - be - be_x_old - bg - bh - bi - bm - bn - bo - bpy - br - bs - bug - bxr - ca - cbk_zam - cdo - ce - ceb - ch - cho - chr - chy - co - cr - crh - cs - csb - cu - cv - cy - da - de - diq - dsb - dv - dz - ee - el - eml - en - eo - es - et - eu - ext - fa - ff - fi - fiu_vro - fj - fo - fr - frp - fur - fy - ga - gan - gd - gl - glk - gn - got - gu - gv - ha - hak - haw - he - hi - hif - ho - hr - hsb - ht - hu - hy - hz - ia - id - ie - ig - ii - ik - ilo - io - is - it - iu - ja - jbo - jv - ka - kaa - kab - kg - ki - kj - kk - kl - km - kn - ko - kr - ks - ksh - ku - kv - kw - ky - la - lad - lb - lbe - lg - li - lij - lmo - ln - lo - lt - lv - map_bms - mdf - mg - mh - mi - mk - ml - mn - mo - mr - mt - mus - my - myv - mzn - na - nah - nap - nds - nds_nl - ne - new - ng - nl - nn - no - nov - nrm - nv - ny - oc - om - or - os - pa - pag - pam - pap - pdc - pi - pih - pl - pms - ps - pt - qu - quality - rm - rmy - rn - ro - roa_rup - roa_tara - ru - rw - sa - sah - sc - scn - sco - sd - se - sg - sh - si - simple - sk - sl - sm - sn - so - sr - srn - ss - st - stq - su - sv - sw - szl - ta - te - tet - tg - th - ti - tk - tl - tlh - tn - to - tpi - tr - ts - tt - tum - tw - ty - udm - ug - uk - ur - uz - ve - vec - vi - vls - vo - wa - war - wo - wuu - xal - xh - yi - yo - za - zea - zh - zh_classical - zh_min_nan - zh_yue - zu