ABL1
Summary: This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ABL proto-oncogene 1, non-receptor tyrosine kinase | MIM:189980 | Ensembl:ENSG00000097007 | HGNC:HGNC:76 | PA24413 | 9q34.12 |
GO terms in ABL1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0000278 | mitotic cell cycle |
| BP | IEA | GO:0001843 | neural tube closure |
| BP | IEA | GO:0001922 | B-1 B cell homeostasis |
| BP | IMP | GO:0001934 | positive regulation of protein phosphorylation |
| BP | IEA | GO:0002322 | B cell proliferation involved in immune response |
| BP | IEA | GO:0002333 | transitional one stage B cell differentiation |
| BP | TAS | GO:0006298 | mismatch repair |
| BP | TAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | NAS | GO:0006464 | cellular protein modification process |
| BP | IMP | GO:0006468 | protein phosphorylation |
| BP | IEA | GO:0006914 | autophagy |
| BP | IDA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IDA | GO:0006975 | DNA damage induced protein phosphorylation |
| BP | IGI | GO:0006979 | response to oxidative stress |
| BP | TAS | GO:0007050 | cell cycle arrest |
| BP | IBA | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway |
| BP | IEA | GO:0007173 | epidermal growth factor receptor signaling pathway |
| BP | IMP | GO:0007204 | positive regulation of cytosolic calcium ion concentration |
| BP | IMP | GO:0007229 | integrin-mediated signaling pathway |
| BP | TAS | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | TAS | GO:0010506 | regulation of autophagy |
| BP | IMP | GO:0010595 | positive regulation of endothelial cell migration |
| BP | IDA | GO:0018108 | peptidyl-tyrosine phosphorylation |
| BP | IMP | GO:0018108 | peptidyl-tyrosine phosphorylation |
| BP | TAS | GO:0018108 | peptidyl-tyrosine phosphorylation |
| BP | IEA | GO:0021587 | cerebellum morphogenesis |
| BP | IEA | GO:0022408 | negative regulation of cell-cell adhesion |
| BP | IEA | GO:0030035 | microspike assembly |
| BP | ISS | GO:0030036 | actin cytoskeleton organization |
| BP | TAS | GO:0030100 | regulation of endocytosis |
| BP | IBA | GO:0030154 | cell differentiation |
| BP | TAS | GO:0030155 | regulation of cell adhesion |
| BP | IEA | GO:0030514 | negative regulation of BMP signaling pathway |
| BP | IMP | GO:0030516 | regulation of axon extension |
| BP | IMP | GO:0031113 | regulation of microtubule polymerization |
| BP | IMP | GO:0032489 | regulation of Cdc42 protein signal transduction |
| BP | IMP | GO:0032956 | regulation of actin cytoskeleton organization |
| BP | IEA | GO:0033690 | positive regulation of osteoblast proliferation |
| BP | IEA | GO:0034446 | substrate adhesion-dependent cell spreading |
| BP | TAS | GO:0034599 | cellular response to oxidative stress |
| BP | IMP | GO:0035791 | platelet-derived growth factor receptor-beta signaling pathway |
| BP | IBA | GO:0038083 | peptidyl-tyrosine autophosphorylation |
| BP | IDA | GO:0038083 | peptidyl-tyrosine autophosphorylation |
| BP | IMP | GO:0038083 | peptidyl-tyrosine autophosphorylation |
| BP | TAS | GO:0038096 | Fc-gamma receptor signaling pathway involved in phagocytosis |
| BP | IMP | GO:0038189 | neuropilin signaling pathway |
| BP | IBA | GO:0042127 | regulation of cell proliferation |
| BP | IDA | GO:0042770 | signal transduction in response to DNA damage |
| BP | IBA | GO:0042981 | regulation of apoptotic process |
| BP | IDA | GO:0043065 | positive regulation of apoptotic process |
| BP | IEA | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | IEA | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | IMP | GO:0043542 | endothelial cell migration |
| BP | IBA | GO:0045087 | innate immune response |
| BP | IMP | GO:0045184 | establishment of protein localization |
| BP | ISS | GO:0045580 | regulation of T cell differentiation |
| BP | IEA | GO:0045930 | negative regulation of mitotic cell cycle |
| BP | IEA | GO:0045931 | positive regulation of mitotic cell cycle |
| BP | IEA | GO:0046632 | alpha-beta T cell differentiation |
| BP | IDA | GO:0046777 | protein autophosphorylation |
| BP | IEA | GO:0048536 | spleen development |
| BP | IEA | GO:0048538 | thymus development |
| BP | IEA | GO:0048668 | collateral sprouting |
| BP | IDA | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation |
| BP | IEA | GO:0050798 | activated T cell proliferation |
| BP | IEA | GO:0050853 | B cell receptor signaling pathway |
| BP | IEA | GO:0050885 | neuromuscular process controlling balance |
| BP | TAS | GO:0051149 | positive regulation of muscle cell differentiation |
| BP | IEA | GO:0051281 | positive regulation of release of sequestered calcium ion into cytosol |
| BP | IDA | GO:0051353 | positive regulation of oxidoreductase activity |
| BP | IDA | GO:0051444 | negative regulation of ubiquitin-protein transferase activity |
| BP | TAS | GO:0051444 | negative regulation of ubiquitin-protein transferase activity |
| BP | IMP | GO:0051496 | positive regulation of stress fiber assembly |
| BP | TAS | GO:0051882 | mitochondrial depolarization |
| BP | IMP | GO:0051894 | positive regulation of focal adhesion assembly |
| BP | IEA | GO:0060020 | Bergmann glial cell differentiation |
| BP | IEA | GO:0060563 | neuroepithelial cell differentiation |
| BP | IDA | GO:0070301 | cellular response to hydrogen peroxide |
| BP | IEA | GO:0070373 | negative regulation of ERK1 and ERK2 cascade |
| BP | IEA | GO:0070374 | positive regulation of ERK1 and ERK2 cascade |
| BP | IEA | GO:0071222 | cellular response to lipopolysaccharide |
| BP | IDA | GO:0071901 | negative regulation of protein serine/threonine kinase activity |
| BP | IEA | GO:0072358 | cardiovascular system development |
| BP | IEA | GO:0090050 | positive regulation of cell migration involved in sprouting angiogenesis |
| BP | IEA | GO:0090135 | actin filament branching |
| BP | IMP | GO:1900026 | positive regulation of substrate adhesion-dependent cell spreading |
| BP | IEA | GO:1900042 | positive regulation of interleukin-2 secretion |
| BP | ISS | GO:1900272 | negative regulation of long-term synaptic potentiation |
| BP | IMP | GO:1900275 | negative regulation of phospholipase C activity |
| BP | IEA | GO:1901216 | positive regulation of neuron death |
| BP | TAS | GO:1902036 | regulation of hematopoietic stem cell differentiation |
| BP | IEA | GO:1902715 | positive regulation of interferon-gamma secretion |
| BP | IEA | GO:1903053 | regulation of extracellular matrix organization |
| BP | TAS | GO:1903351 | cellular response to dopamine |
| BP | IMP | GO:1904528 | positive regulation of microtubule binding |
| BP | IMP | GO:1904531 | positive regulation of actin filament binding |
| BP | ISS | GO:1905244 | regulation of modification of synaptic structure |
| BP | IEA | GO:1905555 | positive regulation blood vessel branching |
| BP | IDA | GO:1990051 | activation of protein kinase C activity |
| BP | IEA | GO:2000096 | positive regulation of Wnt signaling pathway, planar cell polarity pathway |
| BP | TAS | GO:2000145 | regulation of cell motility |
| BP | TAS | GO:2000249 | regulation of actin cytoskeleton reorganization |
| BP | IMP | GO:2000251 | positive regulation of actin cytoskeleton reorganization |
| BP | IEA | GO:2000352 | negative regulation of endothelial cell apoptotic process |
| BP | IEA | GO:2000773 | negative regulation of cellular senescence |
| BP | IDA | GO:2001020 | regulation of response to DNA damage stimulus |
| CC | IDA | GO:0005634 | nucleus |
| CC | ISS | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | TAS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | NAS | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0015629 | actin cytoskeleton |
| CC | IDA | GO:0016604 | nuclear body |
| CC | ISS | GO:0030425 | dendrite |
| CC | IBA | GO:0031234 | extrinsic component of cytoplasmic side of plasma membrane |
| CC | IEA | GO:0031252 | cell leading edge |
| CC | IEA | GO:0031965 | nuclear membrane |
| CC | IPI | GO:0032991 | protein-containing complex |
| CC | ISS | GO:0043025 | neuronal cell body |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| CC | TAS | GO:0098794 | postsynapse |
| MF | IDA | GO:0000287 | magnesium ion binding |
| MF | IPI | GO:0001784 | phosphotyrosine residue binding |
| MF | NAS | GO:0003677 | DNA binding |
| MF | TAS | GO:0003785 | actin monomer binding |
| MF | TAS | GO:0004515 | nicotinate-nucleotide adenylyltransferase activity |
| MF | IDA | GO:0004672 | protein kinase activity |
| MF | IMP | GO:0004672 | protein kinase activity |
| MF | EXP | GO:0004713 | protein tyrosine kinase activity |
| MF | IDA | GO:0004713 | protein tyrosine kinase activity |
| MF | IMP | GO:0004713 | protein tyrosine kinase activity |
| MF | TAS | GO:0004713 | protein tyrosine kinase activity |
| MF | IBA | GO:0004715 | non-membrane spanning protein tyrosine kinase activity |
| MF | IDA | GO:0004715 | non-membrane spanning protein tyrosine kinase activity |
| MF | IMP | GO:0004715 | non-membrane spanning protein tyrosine kinase activity |
| MF | IPI | GO:0005080 | protein kinase C binding |
| MF | IBA | GO:0005102 | signaling receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IPI | GO:0008022 | protein C-terminus binding |
| MF | IMP | GO:0016301 | kinase activity |
| MF | IPI | GO:0017124 | SH3 domain binding |
| MF | IPI | GO:0019905 | syntaxin binding |
| MF | IDA | GO:0030145 | manganese ion binding |
| MF | IPI | GO:0038191 | neuropilin binding |
| MF | IPI | GO:0042169 | SH2 domain binding |
| MF | ISS | GO:0046875 | ephrin receptor binding |
| MF | IEA | GO:0051015 | actin filament binding |
| MF | IPI | GO:0051019 | mitogen-activated protein kinase binding |
| MF | IDA | GO:0070064 | proline-rich region binding |
| MF | IPI | GO:0070064 | proline-rich region binding |
Gene expression in normal tissue: ABL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ABL1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | arfpathway | tumor suppressor arf inhibits ribosomal biogenesis |
| biocarta | atmpathway | atm signaling pathway |
| biocarta | g1pathway | cell cycle: g1/s check point |
| biocarta | lis1pathway | lissencephaly gene (lis1) in neuronal migration and development |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis |
| reactome | R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-375170 | CDO in myogenesis |
| reactome | R-HSA-375170 | CDO in myogenesis |
| reactome | R-HSA-376176 | Signaling by ROBO receptors |
| reactome | R-HSA-376176 | Signaling by ROBO receptors |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-428890 | Role of ABL in ROBO-SLIT signaling |
| reactome | R-HSA-428890 | Role of ABL in ROBO-SLIT signaling |
| reactome | R-HSA-453279 | Mitotic G1-G1/S phases |
| reactome | R-HSA-525793 | Myogenesis |
| reactome | R-HSA-525793 | Myogenesis |
| reactome | R-HSA-5663213 | RHO GTPases Activate WASPs and WAVEs |
| reactome | R-HSA-5685938 | HDR through Single Strand Annealing (SSA) |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5693606 | DNA Double Strand Break Response |
| reactome | R-HSA-69231 | Cyclin D associated events in G1 |
| reactome | R-HSA-69236 | G1 Phase |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8939236 | RUNX1 regulates transcription of genes involved in differentiation of HSCs |
| reactome | R-HSA-8940973 | RUNX2 regulates osteoblast differentiation |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
| reactome | R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
| wikipathways | WP1530 | miRNA Regulation of DNA Damage Response |
| wikipathways | WP1545 | miRNAs involved in DNA damage response |
| wikipathways | WP1742 | TP53 Network |
| wikipathways | WP179 | Cell Cycle |
| wikipathways | WP1984 | Integrated Breast Cancer Pathway |
| wikipathways | WP2038 | Regulation of Microtubule Cytoskeleton |
| wikipathways | WP2272 | Pathogenic Escherichia coli infection |
| wikipathways | WP2446 | Retinoblastoma (RB) in Cancer |
| wikipathways | WP2516 | ATM Signaling Pathway |
| wikipathways | WP2864 | Apoptosis-related network due to altered Notch3 in ovarian cancer |
| wikipathways | WP3640 | Imatinib and Chronic Myeloid Leukemia |
| wikipathways | WP4223 | Ras Signaling |
| wikipathways | WP437 | EGF-EGFR Signaling Pathway |
| wikipathways | WP673 | ErbB Signaling Pathway |
| wikipathways | WP707 | DNA Damage Response |
| wikipathways | WP710 | DNA Damage Response (only ATM dependent) |
| pharmgkb | PA164713427 | Imatinib Pathway, Pharmacokinetics/Pharmacodynamics |
| pid | ajdiss_2pathway | Posttranslational regulation of adherens junction stability and dissassembly |
| pid | atm_pathway | ATM pathway |
| pid | lis1pathway | Lissencephaly gene (LIS1) in neuronal migration and development |
| pid | p53regulationpathway | p53 pathway |
| pid | p73pathway | p73 transcription factor network |
| pid | pdgfrbpathway | PDGFR-beta signaling pathway |
| pid | rb_1pathway | Regulation of retinoblastoma protein |
| pid | tap63pathway | Validated transcriptional targets of TAp63 isoforms |
| pid | telomerasepathway | Regulation of Telomerase |
| pid | trkrpathway | Neurotrophic factor-mediated Trk receptor signaling |
| kegg | hsa04012 | ErbB signaling pathway - Homo sapiens (human) |
| kegg | hsa04014 | Ras signaling pathway - Homo sapiens (human) |
| kegg | hsa04110 | Cell cycle - Homo sapiens (human) |
| kegg | hsa04360 | Axon guidance - Homo sapiens (human) |
| kegg | hsa04722 | Neurotrophin signaling pathway - Homo sapiens (human) |
| kegg | hsa05130 | Pathogenic Escherichia coli infection - Homo sapiens (human) |
| kegg | hsa05131 | Shigellosis - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05206 | MicroRNAs in cancer - Homo sapiens (human) |
| kegg | hsa05220 | Chronic myeloid leukemia - Homo sapiens (human) |
| kegg | hsa05416 | Viral myocarditis - Homo sapiens (human) |
| netpath | Pathway_Alpha6Beta4Integrin | Alpha6Beta4Integrin |
| netpath | Pathway_EGFR1 | EGFR1 |
| netpath | Pathway_KitReceptor | KitReceptor |
| netpath | Pathway_TCR | TCR |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD562 | Navitoclax | 4 |
| iGMDRD190 | Nilotinib | 29 |
| iGMDRD41 | Imatinib | 462 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD602 | Foretinib | 1 |
| iGMDRD834 | BCR-ABL1 inhibitors | 1 |
| iGMDRD885 | Compound 110 | 2 |
| iGMDRD152 | 179324-69-7 | 2 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD828 | AURK inhibitor | 1 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD571 | Cabozantinib | 1 |
| iGMDRD313 | Axitinib | 2 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD239 | Dasatinib | 41 |
| iGMDRD283 | Bosutinib | 17 |
| iGMDRD67 | PENFLURIDOL | 4 |
| iGMDRD414 | MST-312 | 3 |
| iGMDRD882 | CIL41 | 2 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD1030 | Tyrosine kinase inhibitor | 105 |
| iGMDRD505 | Pevonedistat | 3 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD221 | Tamoxifen | 2 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD289 | Parthenolide | 1 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD551 | Ponatinib | 31 |
| iGMDRD240 | Vandetanib | 1 |
| iGMDRD945 | ML214 | 6 |
| iGMDRD456 | Crizotinib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABL1
CLASSFICATION
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