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ABL1 Gene
Definition and Synonyms

Definition: The ABL1 gene (ABL family) at 9q34.1 encodes a ubiquitous 145 kD nuclear/cytoplasmic non-receptor protein tyrosine kinase implicated in cell differentiation, division, adhesion, and stress response. ABL1 plays a role in myeloid hematopoiesis. Alternatively spliced exon 1a specifies nuclear ABL1 that enhances target gene transcription. ABL nuclear activity is regulated by CDC2 phosphorylation and by RB1. RB inhibits the ABL kinase. ABL transactivates the p73 gene and phosphorylates the p73 substrate. Alternatively spliced exon 1b encodes myristylated, plasma membrane-associated ABL1. PEST phosphatases negatively regulate ABL and PSTPIP1 is an ABL substrate. The ABL SH3 domain negatively regulates its kinase activity. The N-terminus mediates autoregulation and its loss is oncogenic. Fused BCR-ABL oncogenes are responsible for CML, AML, and ALL. (NCI)

Synonyms: ABL1 Gene, ABL1, Abelson Murine Leukemia Viral Oncogene Homolog 1, JTK7, c-Abl

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