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FLASH GENE
Symbol ABL1 contributors: mct/shn - updated : 16-07-2016
HGNC name c-abl oncogene 1, receptor tyrosine kinase
HGNC id 76
Corresponding disease
BCR-ABL Philadelphia chromosome
Location 9q34.12      Physical location : 133.589.267 - 133.763.060
Synonym name
  • v-abl Abelson murine leukemia viral oncogene homolog 1
  • proto-oncogene tyrosine-protein kinase ABL1
  • bcr/c-abl oncogene protein
  • BCR-ABL fusion
  • v-abl Abelson murine leukemia viral oncogene homolog 1
  • proto-oncogene c-Abl
  • c-abl oncogene 1, receptor tyrosine kinase
  • Synonym symbol(s) ABL, JTK7, p150, c-ABL, v-abl
    EC.number 2.7.1.112, 2.7.10.2
    DNA
    TYPE functioning gene
    STRUCTURE 173.79 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D9S1861 - D9S1863 - ABL1 - D9S179 - D9S1847 - qter
    Physical map
    LOC389793 9 LOC389793 LOC389794 9 LOC389794 LOC375759 9q34.2 hypothetical protein LOC375759 AD-003 9q34.2 AD-003 protein ASB6 9q34.13 ankyrin repeat and SOCS box-containing 6 PRRX2 9q34.1 paired related homeobox 2 PTGES 9q34.3 prostaglandin E synthase TOR1B 9q34 torsin family 1, member B (torsin B) LOC51759 DYT1 9q34 dystonia 1, torsion (autosomal dominant; torsin A) USP20 9q34.12-q34.13 ubiquitin specific protease 20 FNBP1 9q34 formin binding protein 1 GPR107 9q34.2 G protein-coupled receptor 107 LOC389795 9 similar to GCDRP FREQ 9q34 frequenin homolog (Drosophila) LOC392395 9 similar to hemicentin DKFZp434P0216 9q34.2 hemicentin-2 LOC389796 9 similar to CDNA sequence BC034076 LOC389797 9 similar to cDNA sequence BC034076 ASS 9q34.13 argininosuccinate synthetase PRDM12 9q33-q34 PR domain containing 12 RRP4 9q34 homolog of Yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease ABL1 9q34.13 v-abl Abelson murine leukemia viral oncogene homolog 1 P518 9q34.2 P518 precursor protein FIBCD1 9q34.2 fibrinogen C domain containing 1 LAMC3 9q31-q34 laminin, gamma 3 C9orf58 9q34.13-q34.3 chromosome 9 open reading frame 58 NUP214 9q34.1-q34.2 nucleoporin 214kDa C9orf59 9q34 chromosome 9 open reading frame 59 C9orf67 9q34.2-q34.3 chromosome 9 open reading frame 67 LOC389798 9 similar to mKIAA0515 protein POMT1 9q34.1 protein-O-mannosyltransferase 1 UCK1 9q34.2 protein-O-mannosyltransferase 1 GRF2 9q34.3 guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene) CRSP8 9q34.3 cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 5384 122.8 1130 - 2009 19234221
    exon 1a
    11 splicing 5881 - 1149 plasma membrane 2009 19234221
    exon 1b, N myristoilation site
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis    Homo sapiens
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatozoa Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two Src homology domains SH3, SH2 (SH3 domain is involved in its interaction with talin and Vav)
  • a catalytic, protein tyrosine kinase domain
  • in the C terminal region three nuclear localization signals (NLS)
  • a DNA binding domain
  • a binding site for actin
  • a nuclear export signal (NES)
  • mono polymer tetramer
    HOMOLOGY
    interspecies ortholog to Abl1, Mus musculus
    ortholog to abl1, Danio rerio
    ortholog to ABL1, Pan troglodytes
    ortholog to Abl1, Rattusnorvegicus
    Homologene
    FAMILY
  • protein kinase superfamily
  • Tyr protein kinase family
  • CATEGORY enzyme , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus,nucleolus
    text loss from the nucleus upon adhesion to fibronectin matrix
    basic FUNCTION
  • non receptor tyrosine kinase, involved in processes of cell differentiation, cell division, cell adhesion, and stress response
  • in brain, ABL1 is involved in neuronal plasticity, neurite outgrowth, and neurogenesis
  • playing a critical role for signaling transduction from various receptors in leukocytes
  • c-Abl promotes the induction of EGR1 through the MEK/ERK pathway in regulating apoptotic response to oxidative stress
  • playing a role in DNA repair as a regulator/coordinator of the DNA damage response
  • inducing apoptosis in response to DNA damage
  • required for beta(2) integrin-dependent neutrophil sustained adhesion and spreading
  • playing an essential role in the determination of cell fate that is related to its nuclear shuttling in response to DNA damage
  • plays a central role in the induction of NOX5 activity in response to H2O2
  • modulates innate immune response through MAVS phosphorylation
  • major regulator of PARK2 function (phosphorylates parkin on tyrosine 143)
  • participates in modulating PITX1 expression in the apoptotic response to DNA damage
  • is a nonreceptor protein tyrosine kinase that has a role in regulating smooth muscle cell proliferation and contraction
  • CELLULAR PROCESS cell cycle, division
    cell life, differentiation
    PHYSIOLOGICAL PROCESS
    text promoting cell cycle arrest by blocking the G/S transition-in a TP53 dependent way
    PATHWAY
    metabolism
    signaling
    a component
  • complex ABL1/ABI1/WASF2 as critical pathway for coupling stimulatory signals to actin cytoskeletal remodeling
  • BCR-ABL1 suppresses autophagy through ATF5-mediated regulation of MTOR transcription
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Philadelphia chromosome breakpoint, BCR (
  • cyclic AMP response element (CRE)-binding protein, CREB
  • abl-interactor 2, ABI2 (
  • Grb2 and mSos1 (
  • SHPTP1 (
  • ABL-associated protein 1, AAP1 (
  • v-crk sarcoma virus CT10 oncogene homolog (avian)-like, CRKL (
  • ataxia telangiectasia mutated, ATM (
  • phosphoprotein associated with glycosphingolipid, PAG (
  • Src family kinase Hck (
  • paxillin, PXN (
  • amphiphysin-like protein 1, ALP1 (
  • growth factor receptor-bound protein 10, GRB10 (
  • Janus kinase 1, Jak1 (
  • 70 kDa subunit of Ku antigen, Ku70 (
  • glucokinase (hexokinase 4) regulator, GCKR (
  • p73alpha (
  • Dok-like protein, DOKL (
  • P53 (
  • Trk nerve growth factor receptor (
  • TrkA (
  • rapamycin and FKBP-target 1, RAFT1 (
  • N-methyl-D-aspartic acid receptor NR2D subunit (
  • telomerase reverse transcriptase, TERT (
  • roundabout, axon guidance receptor, homolog 1, ROBO1 (
  • Cdk5 and Abl enzyme substrate, Cables (
  • WAVE-1 (
  • CD19 (
  • p21-activated protein kinase gamma-PAK (
  • hematopoietic progenitor kinase 1, HPK1 (
  • Fe65, X11, and mDab1 (
  • phospholipid scramblase 1, PLSCR1 (
  • proto-oncogene Vav (
  • RAN, member RAS oncogene family, RAN (
  • EPH receptor B2, EPHB2 (
  • Brain armadillo protein delta-catenin (
  • RAD9 homolog A (S. pombe), RAD9 (
  • anterior pharynx-defective 2, Aph2 (
  • BRCA1 (
  • damage-specific DNA binding protein 1, DDB1 (
  • IkappaBalpha (
  • Crk SH2 domain (
  • Arg/Abl-interacting protein ArgBP2 (
  • Arg protein-tyrosine kinases (
  • catalase (
  • glutathione peroxidase 1, GPx1 (
  • Ras and Rab interactor 1, RIN1 (
  • topoisomerase (DNA) II binding protein 1, TOPBP1 (
  • vinexin (
  • mucin 1, cell surface associated, MUC1 (
  • FGFR1OP and WRNIP1 (FGFR1OP significantly reduced ABL1-dependent phosphorylation of WRNIP1 and resulted in the promotion of cell cycle progression)
  • amplified in breast cancer 1 protein, AIB1 (
  • CDON is important for full ABL1 kinase activity, and ABL1 is necessary for full activation of MAPK14, during myogenic differentiation
  • PARK2 (ABL1 SH3 domain is required for the interaction with parkin)
  • Atm and Atr in response to DNA damage (
  • EWSR1 depletion results in alternative splicing changes of genes involved in DNA repair and genotoxic stress signaling, including ABL1, CHEK2, and MAP4K2
  • H2O2-NOX5 regulation in human spermatozoa is mediated through a ABL1-dependent signaling pathway
  • mediates oxidative stress-induced neuronal cell death through phosphorylating STK4 at Y433
  • is a novel upstream activator of STK3 suggesting that the conserved ABL1-MST signaling cascade plays an important role in oxidative stress-induced neuronal cell death
  • KAT5 tyrosine phosphorylation is a key event in the sensing of genomic and chromatin perturbations, with a key role for ABL1 in such processes
  • functional relationship between ABL1 and CLASP2 is conserved and provides a means to control the CLASP2 association with the cytoskeleton
  • ABL1 protected HIPK2 from degradation mediated by the ubiquitin E3 ligase SIAH1
  • ABL1 phosphorylates SKI-interacting protein (SNW1), a nuclear cofactor of the transcription factor SMAD3
  • ERRFI1 may regulate the targeting of ABL1 to chromatin
  • cell & other
  • associates with chromatin after DNA damage in a manner dependent on its kinase activity, and functions during the early phase of RAD51 chromatin assembly, before RAD51 nucleoprotein filament formation
  • REGULATION
    activated by requiring mitogen-activated protein kinase kinase 6 activation (MAP2K6) for inducing apoptosis
    certain DNA-damaging agents from ionizing radiation to alkylating agents
    regulated by ATM
    beta(2) integrin engagement
    inhibited by ABL-associated protein 1, AAP1 (
    F-actin (
    repressed by TOPBP1, at both mRNA and protein levels
    ASSOCIATED DISORDERS
    corresponding disease(s) BCR-ABL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    in chronic myelogenous leukemia cells, silenced by promoter methylation
    tumoral fusion translocation    
    translocation t(22;9)(q11;q34)and fusion with NUP214 in T-cell acute lymphoblastic leukemia
    tumoral fusion      
    EML1-ABL1 fusion due to a cryptic t(9;14)(q34;q32), in T-cell acute lymphoblastic leukemia (ALL)
    tumoral fusion      
    fusion gene involving ABL1 and NUP214, in T-cell acute lymphoblastic leukemia (T-ALL)
    tumoral fusion      
    BCR-ABL1 and ETV6-ABL1 in T-cell acute lymphoblastic leukemia
    tumoral fusion      
    with SFPQ in t(1;9)(p34;q34) and B cell progenitor acute lymphoid leukemia
    tumoral fusion      
    fusion gene SNX2-ABL1 in a pediatric case of acute lymphoblastic leukemia (ALL), arising from a t(5;9)(q22;q34) translocation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    ABL1 fusion proteins are sensitive to tyrosine kinase inhibitors, which can be included in future treatment strategy
    neurologyneurodegenerativeParkinson/dementia Parkinsonism
    inhibition of ABL1 may be a neuroprotective approach in the treatment of Parkinson disease
    ANIMAL & CELL MODELS
  • mice homozygous for the c-abl mutation became runted and died 1 to 2 weeks after birth (
  • mice homozygous for the c-abl mutation are severely affected, displaying increased perinatal mortality, runtedness, and abnormal spleen, head, eye development, and major reductions in B cell progenitors (
  • Abl-/- mice are osteoporotic with long bones containing thinner cortical bone and reduced trabecular bone volume (
  • c-Abl deficiency result in a broad spectrum of defects in cell response to genotoxic stress, including activation of Chk1 and Chk2, activation of p53, nuclear foci formation, apoptosis, and DNA repair (