GENERAL INFORMATIONi
Gene namei ABL1
Synonyms ABL, c-ABL, JTK7, p150
Gene descriptioni ABL proto-oncogene 1, non-receptor tyrosine kinase
Protein classi Cancer-related genes
Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
RAS pathway related proteins
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 9
Cytoband q34.12
Chromosome location (bp) 130713043 - 130887675
Number of transcriptsi 3
Ensembl ENSG00000097007 (version 109)
Entrez gene 25
HGNC HGNC:76
UniProt P00519 (UniProt - Evidence at protein level)
neXtProt NX_P00519
GeneCards ABL1
Antibodypedia ABL1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1 (involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN (microtubule-binding proteins). Phosphorylation of WASF3 is critical for the stimulation of lamellipodia formation and cell migration. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as BCAR1, CRK, CRKL, DOK1, EFS or NEDD9 1. Phosphorylates multiple receptor tyrosine kinases and more particularly promotes endocytosis of EGFR, facilitates the formation of neuromuscular synapses through MUSK, inhibits PDGFRB-mediated chemotaxis and modulates the endocytosis of activated B-cell receptor complexes. Other substrates which are involved in endocytosis regulation are the caveolin (CAV1) and RIN1. Moreover, ABL1 regulates the CBL family of ubiquitin ligases that drive receptor down-regulation and actin remodeling. Phosphorylation of CBL leads to increased EGFR stability. Involved in late-stage autophagy by regulating positively the trafficking and function of lysosomal components. ABL1 targets to mitochondria in response to oxidative stress and thereby mediates mitochondrial dysfunction and cell death. In response to oxidative stress, phosphorylates serine/threonine kinase PRKD2 at 'Tyr-717' 2. ABL1 is also translocated in the nucleus where it has DNA-binding activity and is involved in DNA-damage response and apoptosis. Many substrates are known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6, RAD9A, RAD51, RAD52 or WRN. Activates the proapoptotic pathway when the DNA damage is too severe to be repaired. Phosphorylates TP73, a primary regulator for this type of damage-induced apoptosis. Phosphorylates the caspase CASP9 on 'Tyr-153' and regulates its processing in the apoptotic response to DNA damage. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks. ABL1 acts also as a regulator of multiple pathological signaling cascades during infection. Several known tyrosine-phosphorylated microbial proteins have been identified as ABL1 substrates. This is the case of A36R of Vaccinia virus, Tir (translocated intimin receptor) of pathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA (ankyrin repeat-containing protein A) of A.phagocytophilum. Pathogens can highjack ABL1 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Regulates T-cell differentiation in a TBX21-dependent manner (By similarity). Positively regulates chemokine-mediated T-cell migration, polarization, and homing to lymph nodes and immune-challenged tissues, potentially via activation of NEDD9/HEF1 and RAP1 (By similarity). Phosphorylates TBX21 on tyrosine residues leading to an enhancement of its transcriptional activator activity (By similarity). show less
Molecular function (UniProt)i DNA-binding, Kinase, Transferase, Tyrosine-protein kinase
Biological process (UniProt)i Apoptosis, Autophagy, Cell adhesion, DNA damage, DNA repair, Endocytosis
Ligand (UniProt)i ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding
Gene summary (Entrez)i 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] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
ABL1-201
ENSP00000323315
ENST00000318560
P00519
[Direct mapping] Tyrosine-protein kinase ABL1
Show all
A0A024R8E2
[Target identity:100%; Query identity:100%] Tyrosine-protein kinase
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   Tyr protein kinases
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
   COSMIC Translocations
Disease related genes
FDA approved drug targets
   Small molecule drugs
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0000278 [mitotic cell cycle]
GO:0000287 [magnesium ion binding]
GO:0000400 [four-way junction DNA binding]
GO:0000405 [bubble DNA binding]
GO:0001726 [ruffle]
GO:0001784 [phosphotyrosine residue binding]
GO:0001843 [neural tube closure]
GO:0001922 [B-1 B cell homeostasis]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0002322 [B cell proliferation involved in immune response]
GO:0002333 [transitional one stage B cell differentiation]
GO:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0003785 [actin monomer binding]
GO:0004515 [nicotinate-nucleotide adenylyltransferase activity]
GO:0004672 [protein kinase activity]
GO:0004713 [protein tyrosine kinase activity]
GO:0004715 [non-membrane spanning protein tyrosine kinase activity]
GO:0005080 [protein kinase C binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005783 [endoplasmic reticulum]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006468 [protein phosphorylation]
GO:0006897 [endocytosis]
GO:0006909 [phagocytosis]
GO:0006914 [autophagy]
GO:0006915 [apoptotic process]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0006979 [response to oxidative stress]
GO:0007154 [cell communication]
GO:0007155 [cell adhesion]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007229 [integrin-mediated signaling pathway]
GO:0007249 [I-kappaB kinase/NF-kappaB signaling]
GO:0007611 [learning or memory]
GO:0008022 [protein C-terminus binding]
GO:0008306 [associative learning]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009410 [response to xenobiotic stimulus]
GO:0009791 [post-embryonic development]
GO:0010506 [regulation of autophagy]
GO:0010595 [positive regulation of endothelial cell migration]
GO:0015629 [actin cytoskeleton]
GO:0016020 [membrane]
GO:0016301 [kinase activity]
GO:0016310 [phosphorylation]
GO:0016604 [nuclear body]
GO:0016740 [transferase activity]
GO:0017124 [SH3 domain binding]
GO:0018108 [peptidyl-tyrosine phosphorylation]
GO:0019901 [protein kinase binding]
GO:0019904 [protein domain specific binding]
GO:0019905 [syntaxin binding]
GO:0021587 [cerebellum morphogenesis]
GO:0022408 [negative regulation of cell-cell adhesion]
GO:0023052 [signaling]
GO:0030035 [microspike assembly]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0030100 [regulation of endocytosis]
GO:0030145 [manganese ion binding]
GO:0030155 [regulation of cell adhesion]
GO:0030182 [neuron differentiation]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0030509 [BMP signaling pathway]
GO:0030514 [negative regulation of BMP signaling pathway]
GO:0030516 [regulation of axon extension]
GO:0031113 [regulation of microtubule polymerization]
GO:0031252 [cell leading edge]
GO:0031965 [nuclear membrane]
GO:0032489 [regulation of Cdc42 protein signal transduction]
GO:0032729 [positive regulation of interferon-gamma production]
GO:0032743 [positive regulation of interleukin-2 production]
GO:0032956 [regulation of actin cytoskeleton organization]
GO:0032991 [protein-containing complex]
GO:0033690 [positive regulation of osteoblast proliferation]
GO:0034446 [substrate adhesion-dependent cell spreading]
GO:0034599 [cellular response to oxidative stress]
GO:0034976 [response to endoplasmic reticulum stress]
GO:0035791 [platelet-derived growth factor receptor-beta signaling pathway]
GO:0036211 [protein modification process]
GO:0038083 [peptidyl-tyrosine autophosphorylation]
GO:0038096 [Fc-gamma receptor signaling pathway involved in phagocytosis]
GO:0038189 [neuropilin signaling pathway]
GO:0038191 [neuropilin binding]
GO:0042100 [B cell proliferation]
GO:0042127 [regulation of cell population proliferation]
GO:0042169 [SH2 domain binding]
GO:0042770 [signal transduction in response to DNA damage]
GO:0042981 [regulation of apoptotic process]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043065 [positive regulation of apoptotic process]
GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043124 [negative regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043525 [positive regulation of neuron apoptotic process]
GO:0043542 [endothelial cell migration]
GO:0043621 [protein self-association]
GO:0045202 [synapse]
GO:0045580 [regulation of T cell differentiation]
GO:0045907 [positive regulation of vasoconstriction]
GO:0045930 [negative regulation of mitotic cell cycle]
GO:0045931 [positive regulation of mitotic cell cycle]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046632 [alpha-beta T cell differentiation]
GO:0046777 [protein autophosphorylation]
GO:0046872 [metal ion binding]
GO:0046875 [ephrin receptor binding]
GO:0048008 [platelet-derived growth factor receptor signaling pathway]
GO:0048146 [positive regulation of fibroblast proliferation]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048536 [spleen development]
GO:0048538 [thymus development]
GO:0050731 [positive regulation of peptidyl-tyrosine phosphorylation]
GO:0050798 [activated T cell proliferation]
GO:0050852 [T cell receptor signaling pathway]
GO:0050853 [B cell receptor signaling pathway]
GO:0050885 [neuromuscular process controlling balance]
GO:0051015 [actin filament binding]
GO:0051019 [mitogen-activated protein kinase binding]
GO:0051281 [positive regulation of release of sequestered calcium ion into cytosol]
GO:0051353 [positive regulation of oxidoreductase activity]
GO:0051444 [negative regulation of ubiquitin-protein transferase activity]
GO:0051450 [myoblast proliferation]
GO:0051496 [positive regulation of stress fiber assembly]
GO:0051649 [establishment of localization in cell]
GO:0051726 [regulation of cell cycle]
GO:0051882 [mitochondrial depolarization]
GO:0051894 [positive regulation of focal adhesion assembly]
GO:0060020 [Bergmann glial cell differentiation]
GO:0060038 [cardiac muscle cell proliferation]
GO:0060563 [neuroepithelial cell differentiation]
GO:0070064 [proline-rich region binding]
GO:0070097 [delta-catenin binding]
GO:0070301 [cellular response to hydrogen peroxide]
GO:0070371 [ERK1 and ERK2 cascade]
GO:0070373 [negative regulation of ERK1 and ERK2 cascade]
GO:0070374 [positive regulation of ERK1 and ERK2 cascade]
GO:0070997 [neuron death]
GO:0071103 [DNA conformation change]
GO:0071222 [cellular response to lipopolysaccharide]
GO:0071560 [cellular response to transforming growth factor beta stimulus]
GO:0071871 [response to epinephrine]
GO:0071901 [negative regulation of protein serine/threonine kinase activity]
GO:0072359 [circulatory system development]
GO:0090050 [positive regulation of cell migration involved in sprouting angiogenesis]
GO:0090398 [cellular senescence]
GO:0098609 [cell-cell adhesion]
GO:0098794 [postsynapse]
GO:1900006 [positive regulation of dendrite development]
GO:1900026 [positive regulation of substrate adhesion-dependent cell spreading]
GO:1900272 [negative regulation of long-term synaptic potentiation]
GO:1900275 [negative regulation of phospholipase C activity]
GO:1901216 [positive regulation of neuron death]
GO:1901300 [positive regulation of hydrogen peroxide-mediated programmed cell death]
GO:1902036 [regulation of hematopoietic stem cell differentiation]
GO:1903053 [regulation of extracellular matrix organization]
GO:1903055 [positive regulation of extracellular matrix organization]
GO:1903210 [podocyte apoptotic process]
GO:1903351 [cellular response to dopamine]
GO:1903905 [positive regulation of establishment of T cell polarity]
GO:1904157 [DN4 thymocyte differentiation]
GO:1904518 [protein localization to cytoplasmic microtubule plus-end]
GO:1904528 [positive regulation of microtubule binding]
GO:1904531 [positive regulation of actin filament binding]
GO:1905244 [regulation of modification of synaptic structure]
GO:1905555 [positive regulation of blood vessel branching]
GO:1990051 [activation of protein kinase C activity]
GO:1990837 [sequence-specific double-stranded DNA binding]
GO:2000096 [positive regulation of Wnt signaling pathway, planar cell polarity pathway]
GO:2000145 [regulation of cell motility]
GO:2000249 [regulation of actin cytoskeleton reorganization]
GO:2000251 [positive regulation of actin cytoskeleton reorganization]
GO:2000352 [negative regulation of endothelial cell apoptotic process]
GO:2000406 [positive regulation of T cell migration]
GO:2000772 [regulation of cellular senescence]
GO:2000773 [negative regulation of cellular senescence]
GO:2001020 [regulation of response to DNA damage stimulus]
Show all
 1130 aa
122.9 kDa 		No 0
ABL1-202
ENSP00000361423
ENST00000372348
P00519
[Direct mapping] Tyrosine-protein kinase ABL1
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   Tyr protein kinases
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
   COSMIC Translocations
Disease related genes
FDA approved drug targets
   Small molecule drugs
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0000278 [mitotic cell cycle]
GO:0000287 [magnesium ion binding]
GO:0000400 [four-way junction DNA binding]
GO:0000405 [bubble DNA binding]
GO:0001784 [phosphotyrosine residue binding]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0003785 [actin monomer binding]
GO:0004515 [nicotinate-nucleotide adenylyltransferase activity]
GO:0004672 [protein kinase activity]
GO:0004713 [protein tyrosine kinase activity]
GO:0004715 [non-membrane spanning protein tyrosine kinase activity]
GO:0005080 [protein kinase C binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006468 [protein phosphorylation]
GO:0006897 [endocytosis]
GO:0006914 [autophagy]
GO:0006915 [apoptotic process]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0006979 [response to oxidative stress]
GO:0007154 [cell communication]
GO:0007155 [cell adhesion]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007229 [integrin-mediated signaling pathway]
GO:0008022 [protein C-terminus binding]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0010506 [regulation of autophagy]
GO:0010595 [positive regulation of endothelial cell migration]
GO:0015629 [actin cytoskeleton]
GO:0016020 [membrane]
GO:0016301 [kinase activity]
GO:0016310 [phosphorylation]
GO:0016604 [nuclear body]
GO:0016740 [transferase activity]
GO:0017124 [SH3 domain binding]
GO:0018108 [peptidyl-tyrosine phosphorylation]
GO:0019905 [syntaxin binding]
GO:0023052 [signaling]
GO:0030036 [actin cytoskeleton organization]
GO:0030100 [regulation of endocytosis]
GO:0030145 [manganese ion binding]
GO:0030155 [regulation of cell adhesion]
GO:0030425 [dendrite]
GO:0030516 [regulation of axon extension]
GO:0031113 [regulation of microtubule polymerization]
GO:0031965 [nuclear membrane]
GO:0032489 [regulation of Cdc42 protein signal transduction]
GO:0032956 [regulation of actin cytoskeleton organization]
GO:0032991 [protein-containing complex]
GO:0034599 [cellular response to oxidative stress]
GO:0035791 [platelet-derived growth factor receptor-beta signaling pathway]
GO:0036211 [protein modification process]
GO:0038083 [peptidyl-tyrosine autophosphorylation]
GO:0038096 [Fc-gamma receptor signaling pathway involved in phagocytosis]
GO:0038189 [neuropilin signaling pathway]
GO:0038191 [neuropilin binding]
GO:0042169 [SH2 domain binding]
GO:0042770 [signal transduction in response to DNA damage]
GO:0042981 [regulation of apoptotic process]
GO:0043025 [neuronal cell body]
GO:0043065 [positive regulation of apoptotic process]
GO:0043542 [endothelial cell migration]
GO:0043621 [protein self-association]
GO:0045580 [regulation of T cell differentiation]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046777 [protein autophosphorylation]
GO:0046872 [metal ion binding]
GO:0046875 [ephrin receptor binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050731 [positive regulation of peptidyl-tyrosine phosphorylation]
GO:0051019 [mitogen-activated protein kinase binding]
GO:0051353 [positive regulation of oxidoreductase activity]
GO:0051444 [negative regulation of ubiquitin-protein transferase activity]
GO:0051496 [positive regulation of stress fiber assembly]
GO:0051726 [regulation of cell cycle]
GO:0051882 [mitochondrial depolarization]
GO:0051894 [positive regulation of focal adhesion assembly]
GO:0070064 [proline-rich region binding]
GO:0070301 [cellular response to hydrogen peroxide]
GO:0071103 [DNA conformation change]
GO:0071901 [negative regulation of protein serine/threonine kinase activity]
GO:0098794 [postsynapse]
GO:1900026 [positive regulation of substrate adhesion-dependent cell spreading]
GO:1900272 [negative regulation of long-term synaptic potentiation]
GO:1900275 [negative regulation of phospholipase C activity]
GO:1902036 [regulation of hematopoietic stem cell differentiation]
GO:1903351 [cellular response to dopamine]
GO:1903905 [positive regulation of establishment of T cell polarity]
GO:1904518 [protein localization to cytoplasmic microtubule plus-end]
GO:1904528 [positive regulation of microtubule binding]
GO:1904531 [positive regulation of actin filament binding]
GO:1905244 [regulation of modification of synaptic structure]
GO:1990051 [activation of protein kinase C activity]
GO:1990837 [sequence-specific double-stranded DNA binding]
GO:2000145 [regulation of cell motility]
GO:2000249 [regulation of actin cytoskeleton reorganization]
GO:2000251 [positive regulation of actin cytoskeleton reorganization]
GO:2000406 [positive regulation of T cell migration]
GO:2001020 [regulation of response to DNA damage stimulus]
Show all
 1149 aa
125 kDa 		No 0
ABL1-203
ENSP00000376971
ENST00000393293
R4GRW0
[Direct mapping] Tyrosine-protein kinase ABL1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
   COSMIC Translocations
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
Protein evidence (Ezkurdia et al 2014)
Show all
 64 aa
6.9 kDa 		No 0

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