ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

5 disorders 4 somatic driver 1 causative 9q34.12 gene with protein product

HGNC:76 Monarch NCBI Gene 25 ENSG00000097007 UniProt P00519 OMIM 189980

Previous symbols: ABL. Aliases: JTK7, c-ABL, p150.

Normal function · from ai-gene-review (P00519, commit 79fe13b38970) · AI-generated, not KB evidence

ABL1 (Tyrosine-protein kinase ABL1, EC 2.7.10.2) is a non-receptor tyrosine kinase with critical roles in cytoskeleton remodeling, DNA damage response, and cell signaling. The protein contains an N-terminal cap with myristoylation site, SH3 and SH2 domains that form an autoinhibitory clamp with the kinase domain, and a C-terminal F-actin binding region. ABL1 shuttles between nucleus and cytoplasm; nuclear ABL1 mediates DNA damage response and apoptosis, while cytoplasmic ABL1 regulates actin dynamics and receptor signaling. Key substrates include DNA repair proteins (RAD51, RAD52, WRN), cytoskeletal regulators (WAVE complex, cortactin), and transcriptional regulators (TP73, YAP1). BCR-ABL1 fusion resulting from t(9;22) translocation drives chronic myeloid leukemia.

ABL1 is a non-receptor tyrosine kinase that phosphorylates substrates involved in DNA damage response, actin cytoskeleton dynamics, and cell signaling.

molecular function: non-membrane spanning protein tyrosine kinase activity · directly involved in: DNA repair; regulation of actin cytoskeleton organization · locations: nucleus; cytosol

ABL1 directly binds F-actin through its C-terminal actin binding domain, enabling localization to and regulation of the actin cytoskeleton.

molecular function: actin filament binding · locations: cytoskeleton; plasma membrane

Nuclear ABL1 binds DNA through its C-terminal DNA binding domain and participates in DNA damage response signaling, promoting apoptosis when damage is irreparable.

molecular function: DNA binding · directly involved in: DNA damage response; apoptotic process · locations: nucleus

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Acute Lymphoblastic Leukemia	somatic driver somatic	mechanism: Kinase-Activated B-ALL Signaling scoped to subtype: Ph-positive
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality	somatic driver somatic
Chronic Myeloid Leukemia, BCR-ABL1 Positive	somatic driver somatic gain of function	mechanism: BCR-ABL1 Fusion Oncogene Formation
Congenital Heart Defects and Skeletal Malformations Syndrome	causative germline gain of function	mechanism: ABL1 Autoinhibitory Regulatory Core Disruption variant: ABL1 p.Ala356Thr; ABL1 p.Glu528Lys; ABL1 p.Tyr245Cys
Mixed Phenotype Acute Leukemia	somatic driver somatic	mechanism: BCR-ABL1 Kinase-Driven Proliferative Signaling scoped to subtype: MPAL BCR-ABL1

Mechanism modules · computed from kb/

sustaining_proliferative_signaling via Acute Lymphoblastic Leukemia, Chronic Myeloid Leukemia, BCR-ABL1 Positive, Mixed Phenotype Acute Leukemia

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.