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GeneE
50 sources retrieved ยท Most recent: April 2026 ยท Index updated 14 days ago
โ“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
Chromosome 9 ยท 9q34.12
NCBI Gene: 25Ensembl: ENSG00000097007.21HGNC: HGNC:76UniProt: P00519
918PubMed Papers
22Diseases
27Drugs
26Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub GeneKinaseOncogene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
โœ“ Experimental GO Evidenceโœ“ Swiss-Prot Reviewed
signal transduction in response to DNA damageregulation of microtubule polymerizationregulation of Cdc42 protein signal transductionregulation of actin cytoskeleton organizationchronic myelogenous leukemiacongenital heart defects and skeletal malformations syndromeacute lymphoblastic leukemianeoplasm
โœฆAI Summary

ABL1 is a non-receptor tyrosine kinase that orchestrates diverse cellular processes including cytoskeleton remodeling, cell adhesion and motility, receptor endocytosis, autophagy, DNA damage response, and apoptosis 12. ABL1 phosphorylates key cytoskeletal regulators like WASF3 to stimulate lamellipodia formation and migration, and coordinates actin dynamics through multiple substrates 1. The kinase regulates receptor tyrosine kinase trafficking and stability, including EGFR endocytosis and PDGFRB-mediated chemotaxis modulation. In the nucleus, ABL1 participates in DNA damage response by phosphorylating repair proteins and proapoptotic factors including TP73 and CASP9 [UniProt]. ABL1 also targets mitochondria during oxidative stress to mediate cell death 2. Clinically, ABL1 dysregulation drives hematologic malignancies. The BCR::ABL1 fusion generated by the Philadelphia chromosome 9(9;22) translocation causes chr9 myeloid leukemia (CML), characterized by explosive clonal expansion beginning 3-14 years before diagnosis 34. BCR::ABL1-positive acute lymphoblastic leukemia (ALL) and Philadelphia chr9-like ALL represent high-risk leukemias with activated kinase signaling 5. Multiple tyrosine kinase inhibitors (imatinib, nilotinib, dasatinib, bosutinib, asciminib, ponatinib) target BCR::ABL1, though acquired mutations in the kinase domain confer resistance to ATP-competitive inhibitors 467. Beyond leukemias, ABL1 alterations associate with dermatofibrosarcoma protuberans and follicular lymphoma, while dysregulated ABL1 expression appears relevant to endometriosis pathogenesis 8.

Sources cited
1
ABL1 is a non-receptor tyrosine kinase that orchestrates diverse cellular processes including cytoskeleton remodeling, cell adhesion and motility, receptor endocytosis, autophagy, DNA damage response, and apoptosis , .
PMID: 22810897
2
ABL1 is a non-receptor tyrosine kinase that orchestrates diverse cellular processes including cytoskeleton remodeling, cell adhesion and motility, receptor endocytosis, autophagy, DNA damage response, and apoptosis , .
PMID: 28428613
3
BCR::ABL1-positive acute lymphoblastic leukemia (ALL) and Philadelphia chr9-like ALL represent high-risk leukemias with activated kinase signaling .
PMID: 28972016
4
Beyond leukemias, ABL1 alterations associate with dermatofibrosarcoma protuberans and follicular lymphoma, while dysregulated ABL1 expression appears relevant to endometriosis pathogenesis .
PMID: 35587747
โš Limited data available โ€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsโ“˜22
chronic myelogenous leukemiaOpen Targets
0.82Strong
congenital heart defects and skeletal malformations syndromeOpen Targets
0.81Strong
acute lymphoblastic leukemiaOpen Targets
0.71Strong
neoplasmOpen Targets
0.63Moderate
Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 PositiveOpen Targets
0.60Moderate
gastrointestinal stromal tumorOpen Targets
0.59Moderate
dermatofibrosarcoma protuberansOpen Targets
0.56Moderate
Hypereosinophilic syndromeOpen Targets
0.56Moderate
Myelodysplastic/Myeloproliferative NeoplasmOpen Targets
0.55Moderate
myelodysplastic/myeloproliferative diseaseOpen Targets
0.55Moderate
metastatic colorectal cancerOpen Targets
0.55Moderate
colorectal cancerOpen Targets
0.54Moderate
myeloid leukemiaOpen Targets
0.52Moderate
follicular lymphomaOpen Targets
0.51Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
Abnormality of the skeletal systemOpen Targets
0.50Moderate
colorectal neoplasmOpen Targets
0.49Moderate
lymphoid leukemiaOpen Targets
0.48Moderate
hypospadiasOpen Targets
0.46Moderate
marginal zone B-cell lymphomaOpen Targets
0.46Moderate
Congenital heart defects and skeletal malformations syndromeUniProt
Leukemia, chronic myeloidUniProt
Pathogenic Variants26
NM_005157.6(ABL1):c.760G>A (p.Gly254Arg)Pathogenic
not provided|ABL1-related disorder|Congenital heart defects and skeletal malformations syndrome
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 254
NM_005157.6(ABL1):c.1516G>A (p.Val506Met)Pathogenic
Congenital heart defects and skeletal malformations syndrome|not provided
โ˜…โ˜…โ˜†โ˜†2024โ†’ Residue 506
NM_005157.6(ABL1):c.689C>T (p.Pro230Leu)Likely pathogenic
Congenital heart defects and skeletal malformations syndrome|not provided
โ˜…โ˜…โ˜†โ˜†2023โ†’ Residue 230
NM_005157.6(ABL1):c.1009G>A (p.Ala337Thr)Pathogenic
Congenital heart defects and skeletal malformations syndrome|not provided|Congenital heart disease;Abnormal skeletal morphology;Failure to thrive
โ˜…โ˜…โ˜†โ˜†2023โ†’ Residue 337
NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)Pathogenic
Failure to thrive;Congenital heart disease;Abnormal skeletal morphology|Congenital heart defects and skeletal malformations syndrome|not provided
โ˜…โ˜…โ˜†โ˜†2023โ†’ Residue 226
NM_005157.6(ABL1):c.1297G>A (p.Ala433Thr)Likely pathogenic
Congenital heart defects and skeletal malformations syndrome|not provided
โ˜…โ˜…โ˜†โ˜†2023โ†’ Residue 433
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile)Likely pathogenic
Leukemia, Philadelphia chromosome-positive, resistant to imatinib|Chronic myelogenous leukemia, BCR-ABL1 positive
โ˜…โ˜…โ˜†โ˜†2023โ†’ Residue 315
NM_005157.6(ABL1):c.1525G>A (p.Glu509Lys)Pathogenic
Congenital heart defects and skeletal malformations syndrome|not provided
โ˜…โ˜…โ˜†โ˜†2023โ†’ Residue 509
NM_005157.6(ABL1):c.295T>C (p.Trp99Arg)Likely pathogenic
Congenital heart defects and skeletal malformations syndrome
โ˜…โ˜…โ˜†โ˜†2020โ†’ Residue 99
NM_005157.6(ABL1):c.1517T>C (p.Val506Ala)Pathogenic
Congenital heart defects and skeletal malformations syndrome|Microcephaly
โ˜…โ˜…โ˜†โ˜†2020โ†’ Residue 506
NM_005157.6(ABL1):c.1388G>A (p.Gly463Asp)Pathogenic
Congenital heart defects and skeletal malformations syndrome|not provided
โ˜…โ˜†โ˜†โ˜†2024โ†’ Residue 463
NM_005157.6(ABL1):c.730A>G (p.Met244Val)Pathogenic
not provided
โ˜…โ˜†โ˜†โ˜†2024โ†’ Residue 244
NM_005157.6(ABL1):c.1025A>G (p.Tyr342Cys)Likely pathogenic
not provided
โ˜…โ˜†โ˜†โ˜†2024โ†’ Residue 342
NM_005157.6(ABL1):c.875A>T (p.Glu292Val)Likely pathogenic
Congenital heart defects and skeletal malformations syndrome
โ˜…โ˜†โ˜†โ˜†2022โ†’ Residue 292
NM_005157.6(ABL1):c.143G>C (p.Trp48Ser)Likely pathogenic
Congenital heart defects and skeletal malformations syndrome
โ˜…โ˜†โ˜†โ˜†2022โ†’ Residue 48
NM_005157.6(ABL1):c.1511A>G (p.Asp504Gly)Likely pathogenic
Congenital heart defects and skeletal malformations syndrome
โ˜…โ˜†โ˜†โ˜†2022โ†’ Residue 504
NM_005157.6(ABL1):c.2351C>T (p.Pro784Leu)Likely pathogenic
Congenital heart defects and skeletal malformations syndrome
โ˜…โ˜†โ˜†โ˜†2019โ†’ Residue 784
NM_005157.6(ABL1):c.1088A>C (p.Asp363Ala)Likely pathogenic
Congenital heart defects and skeletal malformations syndrome
โ˜…โ˜†โ˜†โ˜†โ†’ Residue 363
NM_005157.6(ABL1):c.764A>T (p.Glu255Val)Pathogenic
Lip and oral cavity carcinoma
โ˜†โ˜†โ˜†โ˜†2019โ†’ Residue 255
NM_005157.6(ABL1):c.1187A>G (p.His396Arg)Pathogenic
Lip and oral cavity carcinoma
โ˜†โ˜†โ˜†โ˜†2019โ†’ Residue 396
View on ClinVar โ†—
Drug Targets27
ASCIMINIBApproved
Bcr/Abl fusion protein inhibitor
chronic myelogenous leukemia
ASCIMINIB HYDROCHLORIDEApproved
Bcr/Abl fusion protein inhibitor
Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
AT-9283Phase III
Serine/threonine-protein kinase Aurora-A inhibitor
AZD-0424Phase I
Tyrosine-protein kinase ABL inhibitor
neoplasm
BAFETINIBPhase II
Tyrosine-protein kinase ABL inhibitor
bone disease
BOSUTINIBApproved
Bcr/Abl fusion protein inhibitor
breast cancer
BOSUTINIB MONOHYDRATEApproved
Bcr/Abl fusion protein inhibitor
chronic myelogenous leukemia
DASATINIBApproved
Bcr/Abl fusion protein inhibitor
acute lymphoblastic leukemia
DASATINIB ANHYDROUSApproved
Bcr/Abl fusion protein inhibitor
acute lymphoblastic leukemia
FLUMATINIBPhase III
Tyrosine-protein kinase ABL inhibitor
chronic myelogenous leukemia
IMATINIBApproved
Bcr/Abl fusion protein inhibitor
IMATINIB MESYLATEApproved
Bcr/Abl fusion protein inhibitor
chronic myelogenous leukemia
KW-2449Phase I
Serine/threonine-protein kinase Aurora-A inhibitor
acute myeloid leukemia by FAB classification
NILOTINIBApproved
Tyrosine-protein kinase ABL inhibitor
chronic myelogenous leukemia
NILOTINIB HYDROCHLORIDE MONOHYDRATEApproved
Tyrosine-protein kinase ABL inhibitor
OLVEREMBATINIBPhase III
Bcr/Abl fusion protein inhibitor
PONATINIBApproved
Bcr/Abl fusion protein inhibitor
PONATINIB HYDROCHLORIDEApproved
Bcr/Abl fusion protein inhibitor
chronic myelogenous leukemia
RADOTINIBPhase III
Bcr/Abl fusion protein inhibitor
childhood leukemia
REBASTINIBPhase I/II
Tyrosine-protein kinase ABL inhibitor
chronic myelogenous leukemia
REGORAFENIBApproved
Discoidin domain-containing receptor 2 inhibitor
colorectal cancer
RUSERONTINIBPhase III
Epidermal growth factor receptor erbB1 inhibitor
acute myeloid leukemia
SARACATINIBPhase II
Tyrosine-protein kinase ABL inhibitor
metastatic colorectal cancer
UMBRALISIBApproved
Casein kinase I epsilon inhibitor
follicular lymphoma
UMBRALISIB TOSYLATEApproved
Casein kinase I epsilon inhibitor
follicular lymphoma
VODOBATINIBPhase II
Tyrosine-protein kinase ABL inhibitor
Parkinson disease
XL-228Phase I
Insulin-like growth factor I receptor inhibitor
childhood leukemia
Related Genes
GRB2Protein interaction100%RAD51Protein interaction100%NEDD9Protein interaction100%SHC1Protein interaction100%CBLProtein interaction100%SH3BP2Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Brain
56%
Lung
54%
Heart
50%
Bone Marrow
42%
Liver
28%
Gene Interaction Network
Click a node to explore
ABL1GRB2RAD51NEDD9SHC1CBLSH3BP2
PROTEIN STRUCTURE
Preparing viewerโ€ฆ
PDB5OAZ ยท 1.03 ร… ยท X-ray
View on RCSB โ†—
Constraintโ“˜
LOEUFโ“˜
0.19Highly Constrained
pLIโ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.07โ€“0.19]
RankingsWhere ABL1 stands among ~20K protein-coding genes
  • #192of 20,598
    Most Researched918 ยท top 1%
  • #101of 1,025
    FDA-Approved Drug Targets15 ยท top 10%
  • #1,925of 5,498
    Most Pathogenic Variants26
  • #390of 17,882
    Most Constrained (LOEUF)0.19 ยท top 5%
Genes detectedABL1
Sources retrieved50 papers
Response timeโ€”
๐Ÿ“„ Sources
50โ–ผ
1
Philadelphia chromosome-like acute lymphoblastic leukemia.
PMID: 28972016
Blood ยท 2017
1.00
2
Timing and trajectory of BCR::ABL1-driven chronic myeloid leukaemia.
PMID: 40205062
Nature ยท 2025
0.90
3
Advancements and Future Prospects in Molecular Targeted and siRNA Therapies for Chronic Myeloid Leukemia.
PMID: 38927048
Biomolecules ยท 2024
0.80
4
Chronic myeloid leukemia: 2020 update on diagnosis, therapy and monitoring.
PMID: 32239758
Am J Hematol ยท 2020
0.80
5
Single-cell multiomics analysis of chronic myeloid leukemia links cellular heterogeneity to therapy response.
PMID: 39503729
Elife ยท 2024
0.78