Abl gene

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 MGI: 87859 Homologene: 3783
Gene Ontology Molecular Function: • nucleotide binding • magnesium ion binding • molecular_function • DNA binding • protein-tyrosine kinase activity • ATP binding • protein C-terminus binding • transferase activity • manganese ion binding Cellular Component: • cellular_component • nucleus • cytoskeleton Biological Process: • regulation of progression through cell cycle • S-phase-specific transcription in mitotic cell cycle • mismatch repair • regulation of transcription, DNA-dependent • cell adhesion • intracellular signaling cascade • biological_process • DNA damage response, signal transduction resulting in induction of apoptosis • peptidyl-tyrosine phosphorylation • actin cytoskeleton organization and biogenesis
RNA expression pattern
Additional recommended knowledge Weighing the right way Guide to balance cleaning: 8 simple steps Daily Visual Balance Check 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. The abl gene is located on the 9th chromosome. This gene is activated by being translocated within the bcr (breakpoint cluster region) gene on chromosome 22. This new abl/bcr (chimeric) gene encodes a 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.

References

Further reading

See also

• BCR gene