Gene Accession
P00519
Gene Alias
Protein names Recommended name Tyrosine-protein kinase ABL1 EC number EC:2.7.10.2 2 Publications (UniProtKB | ENZYME | Rhea) Alternative names Abelson murine leukemia viral oncogene homolog 1 Abelson tyrosine-protein kinase 1 Proto-oncogene c-Abl p150 Gene names Name ABL1 Synonyms ABL, JTK7
Background
ABL1 is altered in 26.27% of chronic myeloid leukemia patients. ABL1 V299L lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 V299L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 18242697, PMID: 23086624, PMID: 30419862), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2022). Nilotinib has evidence of efficacy in patients with ABL1 V299L in acute lymphoblastic leukemia.